Foreword
Foreword
Preface
Contents
1: Cardiovascular System
1.1 Developmental and Genetics
1.2 Congenital Heart Disease
1.2.1 Sequential Segmental Cardio-Analysis
1.2.2 Atrial Septal Defect (ASD), Ventricular Septal Defect (VSD), Atrioventricular Septal Defect (AVSD), Patent Ductus Arteriosus (PDA), and Ebstein’s Tricuspid Anomaly (ETA)
1.2.2.1 Atrial Septal Defect (ASD)
1.2.2.2 Ventricular Septal Defect (VSD)
1.2.2.3 Atrioventricular Septal Defect (AVSD)
1.2.2.4 Patent Ductus Arteriosus (PDA)
1.2.2.5 Ebstein’s Tricuspid Anomaly (ETA)
1.2.3 Tetralogy of Fallot (TOF) and Double Outlet Right Ventricle (DORV)
1.2.3.1 Tetralogy of Fallot (TOF)
Aortopulmonary Collateral Arteries (APCAs)
Pulmonary Arterial Changes in VSD and Severe Pulmonary Hypertension
1.2.3.2 Double Outlet Right Ventricle
1.2.4 Hypoplastic Right Heart Syndrome
1.2.4.1 PAVSD
1.2.4.2 PSIVS/PAIVS
1.2.4.3 HRHTA
1.2.5 Transposition of the Great Arteries
1.2.6 Common Trunk (Persistent Truncus Arteriosus)
1.2.7 Total Anomalous Pulmonary Venous Return
1.2.8 Scimitar Syndrome
1.2.9 Hypoplastic Left Heart Syndrome and Coarctation of Aorta
1.2.9.1 Hypoplastic Left Heart Syndrome (HLHS)
1.2.9.2 Coarctation of the Aorta
1.2.10 Heterotaxy Syndrome
1.2.11 Common Genetic Syndromes with Congenital Heart Disease
1.3 Myocarditis and Nonischemic Cardiomyopathies
1.3.1 Myocarditis
1.3.2 Dilated Cardiomyopathy
1.3.2.1 Angiotensin I-Converting Enzyme (ACE) Gene
1.3.2.2 Angiotensin II Type 1 Receptor (AGTR1) Gene
1.3.2.3 Angiotensinogen (AGT) Gene
1.3.2.4 Tumor Necrosis Factor-α (TNF-α) Gene
1.3.2.5 Phospholamban (PLN) Gene
1.3.2.6 Bone Morphogenetic Protein-10 (BMP10) Gene
1.3.2.7 Titin/Connectin Gene
1.3.2.8 Human Leukocyte Antigen (HLA) Gene
1.3.2.9 Alpha2C-Adrenoceptor Gene
1.3.2.10 β1-Adrenoceptor Gene
1.3.2.11 β2-Adrenoceptor Gene
1.3.2.12 Beta-Myosin Heavy Chain Gene
1.3.2.13 Myosin Binding Protein-C (MYBPC3) Gene
1.3.2.14 Cardiac Troponin I (TNNI3) Gene
1.3.2.15 Cardiac Troponin T (TNNT2) Gene
1.3.2.16 Alpha-Cardiac Actin Gene
1.3.2.17 Endothelin-1, Endothelin-A (ETA), and Endothelin-B (ETB) Receptor Genes
1.3.2.18 Apolipoprotein E (ApoE) Gene
1.3.2.19 SCN5A Gene
1.3.2.20 Myotrophin Gene
1.3.2.21 Vinculin and Metavinculin Genes
1.3.2.22 Lamin A/C Gene
1.3.2.23 Adenosine Monophosphate Deaminase-1 (AMPD1) Gene
1.3.2.24 Cypher/ZASP Gene
1.3.2.25 β-Sarcoglycan (SGCB) and δ-Sarcoglycan (SGCD) Genes
1.3.2.26 Polyadenylate-Binding Protein 2 (PABP2) Gene
1.3.2.27 Genes Encoding the Four Major Components of the Heart Calcineurin Pathway, PPP3CA, PPP3CB, GATA4, and NFATC4
1.3.2.28 Dystrophin Gene
1.3.2.29 Gene for Platelet-Activating Factor Acetylhydrolase (PAF-AH)
1.3.2.30 Transforming Growth Factor β1 (TGF-β1) Gene
1.3.2.31 G4.5 Gene
1.3.2.32 HS426 (Nebulette) Gene
1.3.2.33 Human Cardiotrophin-1 Gene (CTF1)
1.3.2.34 Desmin Gene
1.3.2.35 Endothelial Nitric Oxide Synthase (NOS3) Gene
1.3.2.36 Skeletal Muscle Alpha-Actin Gene (ACTA1)
1.3.2.37 Locus on Chromosome 6q12–q16 for Autosomal Dominant DCM
1.3.2.38 A-Dystrobrevin (DTNA)
1.3.2.39 Manganese Superoxide Dismutase Gene (SOD2)
1.3.2.40 Mitochondrial DNA Abnormalities
1.3.2.41 Dilated Cardiomyopathy Due to Chemotherapy-Related Cardiotoxicity
1.3.3 Hypertrophic Cardiomyopathy
1.3.4 Infiltrative/Restrictive Cardiomyopathies
1.3.4.1 Sarcoidosis
1.3.5 Left Ventricular Non-compaction
1.3.6 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C)
1.3.7 Lamin A/C Cardiomyopathy
1.3.8 Mitochondrial Cardiomyopathies
1.3.8.1 mtDNA Depletion Syndrome
1.3.9 Cardiac Channelopathies and Sudden Cardiac Death
1.4 Ischemic Heart Disease, Myocardial Dysfunction, and Heart Failure
1.4.1 Ischemic Heart Disease
1.4.2 Myocardial Dysfunction
1.4.3 Heart Failure
1.5 Valvular Heart Disease
1.5.1 Endocarditis and Valvar Vegetation
1.5.2 Mitral Valve Prolapse
1.5.3 Calcific Mitral Annulus and Calcific Aortic Stenosis
1.5.4 Rheumatic Heart Disease (RHD)
1.5.5 Prosthetic Valves
1.6 Transplantation
1.6.1 Allograft Cellular Rejection
1.6.2 Allograft Humoral Rejection
1.6.3 Cardiac Allograft Vasculopathy
1.6.4 Extracardiac Posttransplant Lympho-proliferative Disorders (PTLD) Following HTX
1.7 Tumors
1.7.1 Benign Tumors
1.7.1.1 Myxoma
1.7.1.2 Lipoma, Valve Fibrolipoma, and Lipomatous Hypertrophy of the Interatrial Septum (LHIAS)
1.7.1.3 Papillary Fibroelastoma (PFE) and Fibroma
Papillary Fibroelastoma
Fibroma
1.7.1.4 Rhabdomyoma
1.7.1.5 Hemangioma
1.7.1.6 Inflammatory Myofibroblastic Tumor
1.7.1.7 Paraganglioma
1.7.1.8 Cardiac Hamartoma
1.7.1.9 Histiocytoid CM (HICM)/Purkinje Cell Hamartoma
1.7.1.10 Congenital Polycystic Tumor of Atrioventricular Node (AVN)
1.7.1.11 Calcified Amorphous Tumor
1.7.1.12 Mesothelial/Monocytic Incidental Excrescences (MICE)
1.7.1.13 Mural Thrombi
1.7.1.14 Rare Non-cardiac Benign Tumors
1.7.2 Malignant Tumors
1.7.2.1 Epithelioid Hemangioendothelioma
1.7.2.2 Angiosarcoma
1.7.2.3 Rhabdomyosarcoma
1.7.2.4 Synovial Sarcoma
1.7.2.5 Others
1.7.3 Metastatic Tumors
1.8 Pericardial Disease
1.8.1 Non-neoplastic Pericardial Disease
1.8.1.1 Pericardial Sac Fluid Storage Through Frank Accumulation Through Tamponade
1.8.1.2 Pericarditis
1.8.2 Neoplastic Pericardial Disease
1.9 Non-neoplastic Vascular Pathology
1.9.1 Congenital Anomalies
1.9.1.1 Arteriovenous Malformations
1.9.1.2 Berry Aneurysm
1.9.1.3 Media Dysplasia
1.9.2 Fibromuscular Dysplasia
1.9.3 Arteriosclerosis
1.9.3.1 Vasculitides
1.9.4 Large-Vessel Vasculitis
1.9.4.1 Takayasu Arteritis
1.9.4.2 Horton Arteritis (Cranial Arteritis, Giant Cell Arteritis)
1.9.5 Medium-Vessel Vasculitis
1.9.5.1 Kawasaki Disease
1.9.5.2 Polyarteritis Nodosa (PAN)
1.9.6 Small-Vessel Vasculitis
Multiple Choice Questions and Answers
References and Recommended Readings
2: Lower Respiratory Tract
2.1 Development and Genetics
2.2 Dysmorphology and Perinatal Congenital Airway Diseases
2.2.1 Foregut Cysts of Bronchogenic Type
2.2.2 Agenesis, Aplasia, and Hypoplasia Pulmonis (Pulmonary Hypoplasia)
2.2.3 CPAM and Congenital Lobar Emphysema
2.2.4 Tracheal and Bronchial Anomalies
2.2.4.1 Laryngeal Web
2.2.4.2 Tracheoesophageal Fistula
2.2.4.3 Tracheal Stenosis/Atresia
2.2.5 Sequestrations and Vascular Anomalies
2.3 Infantile and Pediatric NILD
2.3.1 Neonatal Respiratory Distress Syndrome
2.3.2 “Old” and “New” Bronchopulmonary Dysplasia (OBPD and NBPD)
2.3.3 Atelectasis
2.3.4 Cystic Fibrosis
2.4 Infantile and Pediatric ILD
2.4.1 Diffuse Lung Development-Associated ILD
2.4.1.1 Congenital Acinar Dysgenesis/Dysplasia
2.4.1.2 Congenital Alveolar Dysgenesis/Dysplasia
2.4.1.3 Alveolar Capillary Dysplasia With/Without Misalignment of Pulmonary Veins (ACD/MPV)
2.4.2 Trisomy 21 (Down Syndrome)-Associated ILD
2.4.3 ILD Related to Other Chromosomal/Genomic Microdeletion Disorders
2.4.4 Neuroendocrine Hyperplasia of Infancy (NEHI)
2.4.5 Pulmonary Interstitial Glycogenosis (PIG)
2.4.6 Surfactant Dysfunction Disorders
2.4.6.1 Dysfunctional SP-B-Related ILD
2.4.6.2 Dysfunctional SP-C-Related ILD
2.4.6.3 Dysfunctional ABCA3-Related ILD
2.4.6.4 Lysinuric Protein Intolerance
2.4.7 Pulmonary Alveolar Proteinosis
2.5 “Adult” ILD of the Youth
2.5.1 Diffuse Alveolar Damage (DAD)
2.5.2 Cryptogenic Organizing Pneumonia (COP)
2.5.3 Usual Interstitial Pneumonia/Pneumonitis (UIP)
2.5.4 Nonspecific Interstitial Pneumonia/Pneumonitis (NSIP)
2.5.5 Desquamative Interstitial Pneumonia/Pneumonitis
2.5.6 Respiratory Bronchiolitis ILD
2.5.7 Pulmonary Langerhans Cell Histiocytosis
2.5.8 Lymphoid Interstitial Pneumonia/Pneumonitis (LIP)
2.5.9 Hypersensitivity Pneumonia/Pneumonitis (HSP)
2.5.10 Acute Eosinophilic Pneumonia/Pneumonitis
2.5.11 Progressive Massive Fibrosis
2.6 Inflammation: Tracheobronchial
2.6.1 Laryngotracheitis
2.6.2 Acute Bronchitis
2.6.3 Bronchial Asthma
2.6.4 Pulmonary Hyperinflation
2.6.5 Bronchiectasis
2.6.6 Neoplasms
2.7 Inflammation: Infectious (Pneumonia/Pneumonitis)
2.7.1 Lobar Pneumonia
2.7.2 Bronchopneumonia
2.7.3 Interstitial Pneumonia
2.7.4 Primary Atypical Inflammation (Pneumonia)
2.8 Inflammation: Non-infectious (Pneumonia vs. Pneumonitis)
2.8.1 Aspiration and Chemical Pneumonitis
2.8.2 Lipoid Pneumonia
2.8.3 Diffuse Pulmonary Hemorrhagic Syndromes
2.8.3.1 Goodpasture Syndrome
2.8.3.2 Idiopathic Pulmonary Hemosiderosis
2.8.3.3 Vasculitis-Associated Hemorrhage (Necrotizing Capillaritis)
2.9 Inflammation: Infectious/Non-infectious Granulomatous/Nongranulomatous
2.9.1 Primary Pulmonary Tuberculosis
2.9.2 Sarcoidosis
2.9.3 Aspergillosis
2.9.4 Others
2.10 Chronic Obstructive Pulmonary Disease of the Youth
2.10.1 Chronic Bronchitis
2.10.2 Emphysema
2.11 “Adult” Pneumoconiosis of the Youth
2.11.1 Silicosis
2.11.2 Asbestosis
2.11.3 Non-silico Asbestosis-Related Pneumoconiosis
2.12 Pulmonary Vascular Disorders
2.12.1 Pulmonary Congestion and Edema
2.12.2 Pulmonary Embolism/Infarction
2.12.3 Pulmonary Arterial Hypertension (PAH)
2.13 Transplantation-Related Disorders
2.13.1 Acute Rejection
2.13.2 Chronic Rejection
2.14 Pediatric Tumors and Pseudotumors
2.14.1 Pulmonary Teratoma
2.14.2 Inflammatory Myofibroblastic Tumor
2.14.3 Pulmonary Hamartoma
2.14.4 Pulmonary Sclerosing Hemangioma
2.14.5 Pulmonary Carcinoid
2.14.6 Lymphangioma-(Leo)-Myomatosis (LAM)
2.14.7 Kaposiform Lymphangiomatosis
2.14.8 Pleuropulmonary Blastoma
2.14.9 Metastatic Tumors
2.15 “Adult”-Type Neoplasms in Childhood/Youth
2.15.1 “Adult”-Type Preneoplastic Lesions
2.16 Pleural Diseases
2.16.1 Pleural Effusions and Pleuritis
2.16.2 Pneumothorax
2.16.3 Neoplastic Pleural Diseases
2.16.3.1 Solitary Fibrous Tumor of Pleura
2.16.3.2 Benign Mesothelioma
2.16.3.3 Malignant Mesothelioma
2.17 Posttransplant Lymphoproliferative Disorders (PTLD)
2.18 Non-thymic Mediastinal Pathology
2.18.1 Anterior Mediastinal Pathology
2.18.2 Middle Mediastinal Pathology
2.18.3 Posterior Mediastinal Pathology
Multiple Choice Questions and Answers
References and Recommended Readings
3: Gastrointestinal Tract
3.1 Development and Genetics
3.2 Esophagus
3.2.1 Esophageal Anomalies
3.2.1.1 Esophageal Atresia ± Tracheoesophageal Fistula (EA-TEF)
3.2.1.2 Esophageal Duplication
3.2.1.3 Ectopia/Heterotopia
3.2.1.4 Obstructive Disorders
3.2.1.5 Acquired Anomalies of Low or Eumotility
3.2.1.6 Acquired Anomalies with Dysmotility
3.2.2 Esophageal Vascular Changes
3.2.3 Esophageal Inflammatory Diseases
3.2.3.1 Reflux Esophagitis
GERD in Children with Severe Neurological Impairment
3.2.3.2 Eosinophilic Esophagitis
3.2.3.3 Infectious Esophagitis
3.2.3.4 Injury-Associated Esophagitis
3.2.3.5 Esophagitis in Systemic Disorders
3.2.3.6 Graft-Versus-Host Disease
Endoscopic and Histological Criteria
3.2.3.7 Inflammation-Associated Lining Changes
3.2.4 Esophageal Tumors
3.2.4.1 Benign Esophageal Tumors
3.2.4.2 Malignant Esophageal Tumors
Squamous Cell Carcinoma
Adenocarcinoma
Other Tumors of the Esophagus
3.3 Stomach
3.3.1 Gastric Anomalies
3.3.1.1 Gastric Agenesis and Dystopias
3.3.1.2 Gastric Duplications
3.3.1.3 Ectopia/Heterotopia
3.3.1.4 Obstructive Disorders
3.3.1.5 Acquired Anomalies with Dysmotility
3.3.2 Gastric Vascular Changes
3.3.2.1 Hyperemia
3.3.2.2 Gastric Antral Vascular Ectasia
3.3.3 Gastric Inflammatory Diseases
3.3.3.1 Acute Gastritis
3.3.3.2 Chronic Gastritis
3.3.3.3 Specific Gastritides
Lymphocytic Gastritis
Granulomatous Gastritis
Eosinophilic Gastritis
Helicobacter heilmannii Gastritis
3.3.4 Tissue Continuity Damage-Related Gastric Degenerations
3.3.4.1 Gastric Ulcers
Stress Ulcers
Peptic Ulcers
3.3.4.2 Gastric Hyperplasia
Menetrier Disease
Zollinger-Ellison Syndrome
3.3.4.3 Metaplasias
3.3.5 Gastric Tumors
3.3.5.1 Benign Epithelial Neoplasms
3.3.5.2 Malignant Epithelial Neoplasms
Adenocarcinoma
Other Carcinomas
3.3.5.3 Neuroendocrine Tumors
3.3.5.4 Lymphoproliferative Lesions
Gastrointestinal B-NHL
Mantle Cell Lymphoma
Follicular Lymphoma
Burkitt Lymphoma
Diffuse Large B-Cell Lymphoma
Extranodal Marginal Zone B-Cell Lymphoma of MALT (ENMZL/MALT)
Immunoproliferative Small Intestine Disease (IPSID)
Gastrointestinal T-NHL
Enteropathy-Associated T-Cell Lymphoma (EATL)
Nonnasal NK/T-Cell NHL
Pseudolymphoma
3.3.5.5 Stromal Tumors and Smooth Muscle-Differentiating Tumors
GIST: Gastrointestinal Stromal Tumor
Smooth Muscle Tumors
3.3.5.6 Nonstroma/Smooth Muscle-Differentiating Tumors
3.3.5.7 Secondary Tumors
3.4 Small Intestine
3.4.1 Small Intestinal Anomalies
3.4.1.1 Infantile Colic
3.4.2 Abdominal Wall Defects (Median-Paramedian)
3.4.2.1 Omphalocele
3.4.2.2 Gastroschisis
3.4.3 Continuity Defects of the Intestinal Lumen
3.4.3.1 Atresia
3.4.3.2 Stenosis
3.4.3.3 Meconium Plug Syndrome
3.4.4 Intestinal Muscular Wall Defects
3.4.4.1 Diverticula
Mesenteric Diverticulum
Anti-mesenteric (Meckel’s) Diverticulum
3.4.4.2 Segmental Dilatation
3.4.5 Small Intestinal Dystopias
3.4.5.1 Intussusception
3.4.5.2 Volvulus
3.4.5.3 Nonrotation and Malrotation
3.4.6 Composition Abnormalities of the Intestinal Wall
3.4.6.1 Pancreas Heterotopia
3.4.6.2 Gastric Heterotopia
3.4.6.3 Endometrial Heterotopia (Endometriosis)
3.4.7 Small Intestinal Vascular Changes
3.4.7.1 Non-NEC Vascular Necrosis
Acute Intestinal Ischemia
Chronic Intestinal Ischemia
3.4.8 Inflammation and Malabsorption
3.4.8.1 Necrotizing Enterocolitis
Animal Models
3.4.8.2 Gluten-Sensitive Enteropathy
3.4.8.3 Non-GSE Causes of Malabsorption
Giardiasis/Lambliasis
Tropical Sprue
Whipple Disease
Anisakiasis
3.4.8.4 Intractable Diarrhea of Infancy
Microvillous Inclusion Disease (MVID)
Intestinal Epithelial Dysplasia/Tufting Enteropathy (IED-TE)
Syndromic Diarrhea of Infancy (SDI)
Autoimmune Enteropathy (AIE)
IPEX Syndrome (Immune dysregulation, Polyendocrinopathy, Enteropathy, X-Linkage)
Systemic Disease with Enteric Manifestations
Food Protein-Induced Enterocolitis Syndrome (FPIES)
3.4.8.5 Crohn Disease
3.4.8.6 Peptic Ulceration-Associated Diseases
Radiation Enteritis
Nonsteroidal Anti-inflammatory Drug-Induced Gut Lesions
3.4.9 Short Bowel Syndrome/Intestinal Failure
3.4.10 Small Intestinal Transplantation
3.4.11 Graft-Versus-Host Disease (GVHD) of the Gut
3.4.12 Small Intestinal Neoplasms
3.4.12.1 Adenoma
3.4.12.2 Adenocarcinoma
3.4.12.3 Carcinoma of the Ampulla of Vater
Neuroendocrine Neoplasm
3.4.12.4 Gangliocytic Paraganglioma
3.4.12.5 Other Tumors
3.5 Appendix
3.5.1 Appendiceal Anomalies
3.5.2 Appendiceal Vascular Changes
3.5.3 Appendicitis
3.5.4 Appendiceal Metabolic and Degenerative Changes
3.5.5 Appendiceal Neoplasms
3.5.5.1 Mucinous Cystadenoma
3.5.5.2 Mucinous Cystadenocarcinoma
3.5.5.3 Adenocarcinoma
3.5.5.4 Carcinoid Tumor
3.6 Large Intestine
3.6.1 Large Intestinal Anomalies
3.6.1.1 Congenital Atresia: Stenosis of the Colon
3.6.1.2 Acquired “Pseudo-Atresia” of the Colon
3.6.1.3 Cloacal Membrane Teratogenesis
3.6.1.4 Caudal Dysgenesis Syndrome (CDS)
3.6.1.5 Recto-colonic Dysmotility Syndromes
Aganlionosis (HSCR, HirSChspRung Disease)
Neural Crest Migration
3.6.1.6 Non-Hirschsprung Recto-colonic Dysmotility Syndromes
Rectal Biopsy as Gold Standard
3.6.1.7 Constipation and Chronic Intestinal Pseudo-obstruction
Animal Models and What’s Going on in Research?
3.6.1.8 Colon Diverticulosis
3.6.2 Large Intestinal Vascular Changes
3.6.2.1 Ischemic Colitis
3.6.2.2 Angiodysplasia and Heyde Syndrome
3.6.3 Large Intestinal Inflammatory Disorders
3.6.3.1 Ulcerative Colitis
Colon-Rectal Dysplasia = Intraepithelial Neoplasia
Backwash Ileitis
3.6.3.2 Infectious Colitides
3.6.3.3 “Microscopic Colitis”
3.6.3.4 Others
3.6.4 Colon-Rectum Neoplasms
3.6.4.1 Adenomatous and Serrated Polyps
3.6.4.2 Non-neoplastic, Nonserrated Polyps
Juvenile (Retention) Polyps
Hamartomatous (Peutz-Jeghers-Type) Polyps
Pseudopolyps
Inflammatory Fibroid Polyps
Solitary Rectal Ulcer
Lymphoid Polyps
3.6.4.3 Polyposis Syndromes
FAP
Cowden Syndrome
Gardner Syndrome
Juvenile Polyposis Syndrome (JPS)
Peutz-Jeghers Syndrome (PJS)
Turcot Syndrome
Cronkhite-Canada Syndrome
3.6.4.4 Familial vs. Sporadic Colorectal Neoplasia
3.6.4.5 Adenocarcinoma
Carcinoid Tumor
3.7 Anus
3.7.1 Anal Anomalies
3.7.1.1 Anorectal Defects
3.7.2 Inflammatory Anal Diseases
3.7.2.1 Crohn Disease
3.7.2.2 Ulcerative Colitis
3.7.2.3 Lymphoid Polyp
3.7.3 Benign Anal Tumors and Non-neoplastic Anal Lesions (Pseudotumors)
3.7.4 Anal Pre- and Malignant Lesions
3.7.4.1 Condyloma Acuminatum
Dysplasia (Anal Intraepithelial Neoplasia, AIN)
3.7.4.2 Anal Carcinoma
Anal Carcinoma Histologic Variants
3.7.4.3 Paget Disease
3.7.4.4 Nonanal Carcinoma Neoplasms
3.7.4.5 Secondary Tumors
3.7.4.6 TNM Staging and CAP Guidelines
3.8 Peritoneum
3.8.1 Cytology
3.8.2 Non-neoplastic Peritoneal Pathology
3.8.3 Neoplastic Peritoneal Pathology
Multiple Choice Questions and Answers
References and Recommended Readings
4: Parenchymal GI Glands: Liver
4.1 Development and Genetics (Figs. 4.1 and 4.2)
4.2 Hepatobiliary Anomalies
4.2.1 Ductal Plate Malformation (DPM)
4.2.2 Congenital Hepatic Fibrosis
4.2.3 Biliary Hamartoma (von Meyenburg Complex)
4.2.4 Caroli Disease/Syndrome
4.2.5 ADPKD-Related Liver Cysts
4.3 Hyperbilirubinemia and Cholestasis
4.3.1 Hyperbilirubinemia
4.3.1.1 The Increase of Bilirubin Production
4.3.1.2 The Decrease of Bilirubin Uptake by the Hepatocytes
4.3.2 Decreased Bilirubin Conjugation and Unconjugated Hyperbilirubinemia
4.3.2.1 Abnormal Intracellular (Intrahepatocytic) Binding or Storage of Bilirubin
4.3.2.2 The Inefficiency of the (Intrahepatocyte) Conjugation System
4.3.3 Conjugated Hyperbilirubinemia
4.3.3.1 Abnormal Excretion of the Conjugated Bilirubin into the Intrahepatic Biliary Tract
4.3.3.2 Structural Abnormalities of the Intra- and Extrahepatic Biliary System
4.3.3.3 Abnormalities of the Enterohepatic Circulation
4.4 Infantile/Pediatric/Youth Cholangiopathies
4.4.1 Biliary Atresia
4.4.2 Non-BA Infantile Obstructive Cholangiopathies (NBAIOC)
4.4.3 The Paucity of the Intrahepatic Biliary Ducts (PIBD)
4.4.4 Neonatal Hepatitis Group (NAG)
4.4.4.1 Bile Acid Synthesis Disorders (BASD)
4.4.4.2 Defects of the Intracellular Transport of Conjugated Bilirubin
4.4.4.3 Infection-Related Neonatal Hepatitis
4.4.4.4 Non-BASD Metabolic Dysregulation-Related Neonatal Hepatitis
4.4.4.5 Endocrine Dysregulation-Based Neonatal Hepatitis (EDNH)
4.4.4.6 Miscellaneous/Idiopathic NAG
4.4.5 Primary Sclerosing Cholangitis (PSC)
4.4.6 Primary Biliary Cirrhosis (PBC)
4.4.7 Pregnancy-Related Liver Disease (PLD)
4.5 Genetic and Metabolic Liver Disease
4.5.1 Endoplasmic Reticulum Storage Diseases (ERSDs)
4.5.1.1 Alpha-1-antitrypsin Deficiency (AATD)
4.5.1.2 Non-AATD Endoplasmic Reticulum Storage Diseases
4.5.2 Congenital Dysregulation of Carbohydrate Metabolism
4.5.2.1 Glycogen Storage Diseases
4.5.2.2 Lafora Progressive Myoclonic Epilepsy
4.5.2.3 Galactosemia
4.5.2.4 Hereditary Fructose Intolerance
4.5.2.5 Congenital Disorders of Glycosylation (CDG)
4.5.3 Lipid/Glycolipid and Lipoprotein Metabolism Disorders
4.5.3.1 Niemann-Pick Disease (NPD)
4.5.3.2 Gaucher Disease
4.5.3.3 Mucolipidoses
4.5.4 Amino Acid Metabolism Disorders
4.5.4.1 Tyrosinemia
4.5.5 Mitochondrial Hepatopathies
4.5.5.1 Electron Transport (Respiratory Chain) Defects
4.5.5.2 Fatty Acid Oxidation and Transport Defects
4.5.5.3 Urea Cycle Enzyme Defects
4.5.5.4 Secondary Mitochondrial Hepatopathies
4.5.6 Peroxisomal Disorders
4.5.7 Iron Metabolism Dysregulation
4.5.8 Copper Metabolism Dysregulation
4.5.8.1 Wilson Disease
4.5.8.2 Menkes Syndrome
4.5.9 Porphyria-Related Hepatopathies
4.5.10 Shwachman-Diamond Syndrome (SDS)
4.5.11 Chronic Granulomatous Disease (CGD)
4.5.12 Albinism-Related Liver Diseases
4.6 Viral and AI Hepatitis, Chemical Injury, and Allograft Rejection
4.6.1 Acute Viral Hepatitis
4.6.2 Chronic Viral Hepatitis
4.6.3 Autoimmune Hepatitis
4.6.4 Drug-Induced Liver Disease (Chemical Injury) and TPN
4.6.5 Granulomatous Liver Disease
4.6.6 Alcoholic Liver Disease
4.6.7 Non-alcoholic Steatohepatitis
4.6.8 Acute and Chronic Rejection Post-Liver Transplantation
4.7 Hepatic Vascular Disorders
4.7.1 Acute and Chronic Passive Liver Congestion
4.7.2 Ischemic Hepatocellular Necrosis
4.7.3 Shock-Related Cholestasis
4.8 Liver Failure and Liver Cirrhosis
4.9 Portal Hypertension
4.10 Bacterial and Parasitic Liver Infections
4.10.1 Pyogenic Abscess
4.10.2 Helminthiasis
4.11 Liver Tumors
4.11.1 Benign Tumors (Figs. 4.31, 4.32, and 4.33)
4.11.1.1 Nodular Regenerative Hyperplasia (NRH)
4.11.1.2 Partial Nodular Transformation (PNH)
4.11.1.3 Focal Nodular Hyperplasia (FNH)
4.11.1.4 Macro-Regenerative Nodule (or Nodularity) (MRN)
4.11.1.5 Liver Cell Adenoma (LCA)
4.11.1.6 Hepatocellular Dysplasia
4.11.1.7 Bile Duct Hamartoma (BDH)
4.11.1.8 Bile Duct Adenoma (BDA)
4.11.1.9 Biliary Cystadenoma (BCA)
4.11.1.10 Biliary Papillomatosis
4.11.1.11 Cavernous Hemangioma
4.11.1.12 Infantile Hemangioendothelioma
4.11.1.13 Peliosis Hepatis
4.11.1.14 Hepatic Mesenchymal Hamartoma
4.11.1.15 Teratoma
4.11.1.16 Angiomyolipoma
4.11.2 Malignant Tumors (Figs. 4.34, 4.35, 4.36, 4.37, 4.38, 4.39, 4.40, and 4.41)
4.11.2.1 Hepatoblastoma
4.11.2.2 Hepatocellular Carcinoma (HCC)
4.11.2.3 Cholangiocellular Carcinoma (CCA)
4.11.2.4 Hepatic Angiosarcoma (HAS)
4.11.2.5 Undifferentiated Embryonal Liver Sarcoma (UELS)
4.11.2.6 Hepatic Leiomyosarcoma (HLMS) and Hepatic Rhabdomyosarcoma (HRMS)
4.11.2.7 Rhabdoid Tumor of the Liver
4.11.3 Metastatic Tumors
Multiple Choice Questions and Answers
References and Recommended Readings
5: Parenchymal GI Glands (Gallbladder, Biliary Tract, and Pancreas)
5.1 Development and Genetics
5.2 Biliary and Pancreatic Structural Anomalies
5.2.1 Choledochal Cysts
5.2.2 Gallbladder Congenital Abnormalities
5.2.3 Pancreas Congenital Anomalies
5.2.3.1 Agenesis/Aplasia/Hypoplasia (Both Exocrine and Endocrine Components)
5.2.3.2 Restricted Exocrine Hypoplasia (aka “lipomatous pseudohypertrophy of the pancreas”)
5.2.3.3 Ductal Abnormalities
5.2.3.4 Heterotopia Pancreatitis (Gr. ἕτερος or “Other, Different” and τόπος “Place”)
5.2.3.5 Annular Pancreas
5.2.3.6 Cystic Dysplasia
5.2.3.7 Congenital Cysts of the Pancreas
5.3 Gallbladder and Extrahepatic Biliary Tract
5.3.1 Cholesterolosis and Cholelithiasis
5.3.1.1 Cholelithiasis
5.3.2 Acute and Chronic Cholecystitis
5.3.2.1 Cholecystitis
Acute
5.3.2.2 Chronic Cholecystitis
Variants
5.3.3 Gallbladder Proliferative Processes and Neoplasms
5.3.3.1 Metaplasia
5.3.3.2 Dysplasia
5.3.3.3 Neoplasms
5.3.3.4 Gallbladder Carcinoma
5.3.4 Extrahepatic Bile Duct Tumors and Cholangiocellular Carcinoma
5.3.4.1 Carcinoma of the Extrahepatic Bile Ducts
5.3.4.2 Embryonal Rhabdomyosarcoma
5.4 Pancreas Pathology
5.4.1 Congenital Hyperinsulinism and Nesidioblastosis
5.4.2 Acute and Chronic Pancreatitis
5.4.2.1 Acute Pancreatitis
5.4.2.2 Chronic Pancreatitis
Pancreatitis Variants/Special Types
Pancreatitis, Lymphoplasmacytic Sclerosing Type
Pancreatitis, Granulocytic Epithelial Lesion Type
5.4.3 Pancreatoblastoma and Acinar Cell Carcinoma in Childhood and Youth
5.4.3.1 Pancreatoblastoma
5.4.3.2 Acinar Cell Carcinoma in Childhood and Youth
5.4.4 Cysts and Cystic Neoplastic Processes of the Pancreas
5.4.4.1 Pancreas Pseudocysts (PPC)
5.4.5 PanIN and Solid Pancreas Ductal Carcinoma
5.4.6 Other Tumors
5.4.7 Degenerative Changes and Transplant Pathology
5.4.7.1 Diabetes Mellitus
5.4.7.2 Pancreas Transplant
Multiple Choice Questions and Answers
References and Recommended Readings
6: Kidney, Pelvis, and Ureter
6.1 Development and Genetics
6.2 Non-cystic Congenital Anomalies
6.2.1 Disorders of Number
6.2.2 Disorders of Rotation
6.2.3 Disorders of Position
6.2.4 Disorders of Separation
6.3 Cystic Renal Diseases
6.3.1 Classifications
6.3.2 Autosomal Dominant Polycystic Kidney Disease
6.3.3 Autosomal Recessive Polycystic Kidney Disease
6.3.4 Medullary Sponge Kidney
6.3.5 Multicystic Dysplastic Kidney (MCDK)
6.3.6 Hydronephrosis/Hydroureteronephrosis
6.3.7 Simple Renal Cysts
6.3.8 Acquired Cystic Kidney Disease (CRD-Related)
6.3.9 Genetic Syndromes and Cystic Renal Disease
6.4 Primary Glomerular Diseases
6.4.1 Hypersensitivity Reactions and Major Clinical Syndromes of Glomerular Disease
6.4.2 Post-infectious Glomerulonephritis
6.4.3 Rapidly Progressive Glomerulonephritis
6.4.4 Minimal Change Disease
6.4.5 (Diffuse) Mesangial Proliferative GN
6.4.6 Focal and Segmental Glomerulosclerosis
6.4.7 Membranous Glomerulonephritis
6.4.8 Membranoproliferative (Membrane-Capillary) Glomerulonephritis
6.5 Secondary Glomerular Diseases
6.5.1 SLE/Lupus Nephritis
6.5.2 Henoch-Schönlein Purpura
6.5.3 Amyloidosis
6.5.4 Light Chain Disease
6.5.5 Cryoglobulinemia
6.5.6 Diabetic Nephropathy
6.6 Hereditary/Familial Nephropathies
6.6.1 Fabry Nephropathy
6.6.2 Alport Syndrome
6.6.3 Nail-Patella Syndrome
6.6.4 Congenital Nephrotic Syndrome
6.6.5 Thin Glomerular Basement Membrane Nephropathy (TBMN)
6.7 Tubulointerstitial Diseases
6.7.1 Acute Tubulointerstitial Nephritis (ATIN)
6.7.1.1 Acute Pyelonephritis
6.7.1.2 Pyonephrosis
6.7.1.3 Acute Hypersensitivity Nephritis (AHN)
6.7.1.4 Renal Papillary Necrosis
6.7.2 Chronic Tubulointerstitial Nephritis (CTIN)
6.7.3 Acute Tubular Necrosis
6.7.4 Chronic Renal Failure (CRF)
6.7.5 Nephrolithiasis and Nephrocalcinosis
6.7.6 Osmotic Nephrosis and Hyaline Change
6.7.7 Hypokalemic Nephropathy
6.7.8 Urate Nephropathy
6.7.9 Cholemic Nephropathy/Jaundice-Linked Acute Kidney Injury
6.7.10 Myeloma Kidney
6.7.11 Radiation Nephropathy
6.7.12 Tubulointerstitial Nephritis and Uveitis (TINU)
6.8 Vascular Diseases
6.8.1 Benign Nephrosclerosis
6.8.2 Malignant Nephrosclerosis
6.8.3 Renal Artery Stenosis
6.8.4 Infarcts
6.8.5 Vasculitis
6.8.6 Hemolytic Uremic Syndrome
6.8.7 Thrombotic Thrombocytopenic Purpura
6.9 Renal Transplantation
6.9.1 Preservation Injury
6.9.2 Hyperacute Rejection
6.9.3 Acute Rejection
6.9.4 Chronic Rejection
6.9.5 Humoral (Acute/Chronic) Rejection
6.9.6 Antirejection Drug Toxicity
6.9.7 Recurrence of Primary Disorder
6.10 Hereditary Cancer Syndromes Associated with Renal Tumors
6.10.1 Beckwith-Wiedemann Syndrome
6.10.2 WAGR Syndrome
6.10.3 Denys-Drash Syndrome
6.10.4 Non-WT1/Non-WT2 Pediatric Syndromes
6.10.5 Von Hippel Lindau Syndrome
6.10.6 Tuberous Sclerosis Syndrome
6.10.7 Hereditary Papillary Renal Carcinoma Syndrome
6.10.8 Hereditary Leiomyoma Renal Carcinoma Syndrome
6.10.9 Birt-Hogg-Dube Syndrome
6.11 Pediatric Tumors (Embryonal)
6.11.1 Wilms Tumor (Nephroblastoma)
6.11.2 Cystic Partially Differentiated Nephroblastoma (CPDN) and (Pediatric) Cystic Nephroma
6.11.3 Congenital Mesoblastic Nephroma
6.11.4 Clear Cell Sarcoma
6.11.5 Rhabdoid Tumor
6.11.6 Metanephric Tumors
6.11.7 XP11 Translocation Carcinoma
6.11.8 Ossifying Renal Tumor of Infancy
6.12 Non-embryonal Tumors of the Young
6.12.1 Clear Cell Renal Cell Carcinoma
6.12.2 Chromophobe Renal Cell Carcinoma
6.12.3 Papillary Adenoma and Renal Cell Carcinoma
6.12.4 Collecting Duct Carcinoma
6.12.5 Renal Medullary Carcinoma
6.12.6 Angiomyolipoma
6.12.7 Oncocytoma
6.12.8 Other Epithelial and Mesenchymal Tumors
6.13 Non-neoplastic Pathology of the Pelvis and Ureter
6.13.1 Anatomy and Physiology Notes
6.13.2 Congenital Pelvic-Ureteral Anomalies
6.13.3 Congenital Ureteric Anomalies
6.13.4 Lower Urinary Tract Abnormalities
6.14 Tumors of the Pelvis and Ureter
6.14.1 Neoplasms
6.14.2 Genetic Syndromes
Multiple Choice Questions and Answers
References and Recommended Readings
7: Lower Urinary and Male Genital System
7.1 Development and Genetics
7.1.1 Urinary Bladder and Ureter
7.1.2 Testis, Prostate, and Penis
7.2 Lower Urinary and Genital System Anomalies
7.2.1 Lower Urinary System Anomalies
7.2.1.1 Double Ureters
7.2.1.2 Urinary Bladder Diverticula
7.2.1.3 Persistence of the Urachus
7.2.1.4 Urinary Bladder Exstrophy
7.2.2 Male Genital System Anomalies
7.2.2.1 Anorchia/Anorchism
7.2.2.2 Testicular Regression Syndrome
7.2.2.3 Cryptorchidism and Polyorchidism (Polyorchism)
7.2.2.4 Heterotopias and Heterotopia-Mimickers
7.2.2.5 Bifid Scrotum
7.2.2.6 Prostate Gland Agenesis/Dysgenesis
7.2.2.7 Phimosis and Paraphimosis
7.2.2.8 Urethral Meatus Abnormalities
7.2.2.9 Size and Numerical Abnormalities of the Penis
7.3 Urinary Tract Inflammatory and Degenerative Conditions
7.3.1 Cystitis, Infectious
7.3.2 Cystitis, Non-infectious
7.3.3 Malacoplakia of the Young
7.3.4 Urinary Tract Infections and Vesicoureteral Reflux
7.3.5 Megacystis, Megaureter, Hydronephrosis, and Neurogenic Bladder
7.3.6 Urinary Tract Endometriosis
7.3.7 Tumorlike Lesions (Including Caruncles)
7.4 Preneoplastic and Neoplastic Conditions of the Urinary Tract
7.4.1 Urothelial Hyperplasia (Flat and Papillary)
7.4.2 Reactive Atypia, Atypia of Unknown Significance, Dysplasia, and Carcinoma In Situ (CIS)
7.4.3 Noninvasive Papillary Urothelial Neoplasms
7.4.4 Invasive Urothelial Neoplasms
7.4.5 Non-urothelial Differentiated Urinary Tract Neoplasms
7.5 Male Infertility-Associated Disorders
7.5.1 Spermiogram and Classification
7.6 Inflammatory Disorders of the Testis and Epididymis
7.6.1 Acute Orchitis
7.6.2 Epidermoid Cysts
7.6.3 Hydrocele
7.6.4 Spermatocele
7.6.5 Varicocele
7.7 Testicular Tumors
7.7.1 Germ Cell Tumors
7.7.1.1 Intratubular Germ Cell Neoplasia (ITGCN)
7.7.1.2 Seminoma
7.7.1.3 Embryonal Carcinoma (Testicular EC or TEC)
7.7.1.4 Teratoma
7.7.1.5 Yolk Sac Tumor (YST)/ Endodermal Sinus Tumor (EST)
7.7.1.6 Polyembryoma
7.7.1.7 Choriocarcinoma
7.7.2 Tumors of Specialized Gonadal Stroma
7.7.2.1 Leydig Cell Tumor (LeCT)
7.7.2.2 Sertoli Cell Tumors, Pseudotumors, and Related Lesions
7.7.3 Rhabdomyosarcoma and Rhabdoid Tumor of the Testis
7.7.4 Secondary Tumors
7.8 Tumors of the Epididymis
7.8.1 Adenomatoid Tumor
7.8.2 Papillary Cystadenoma
7.8.3 Rhabdomyosarcoma
7.8.4 Mesothelioma
7.9 Inflammatory Disorders of the Prostate Gland
7.9.1 Acute Prostatitis
7.9.2 Chronic Prostatitis
7.9.3 Granulomatous Prostatitis
7.9.4 Prostatic Malakoplakia of the Youth
7.10 Prostate Gland Overgrowths
7.10.1 Benign Nodular Hyperplasia of the Young and Fibromatosis
7.10.2 Rhabdomyosarcoma, Leiomyosarcoma, and Other Sarcomas (e.g., Ewing Sarcoma)
7.10.3 Prostatic Carcinoma Mimickers
7.10.4 Prostatic Intraepithelial Neoplasia (PIN)
7.10.5 Prostate Cancer of the Young
7.10.6 Hematological Malignancies
7.10.7 Secondary Tumors
7.11 Inflammatory and Neoplastic Disorders of the Penis
7.11.1 Infections
7.11.1.1 Balanoposthitis
7.11.1.2 Syphilis
7.11.1.3 Lymphogranuloma Venereum
7.11.1.4 Others
7.11.2 Non-infectious Inflammatory Diseases
7.11.2.1 Balanitis Xerotica Obliterans
7.11.2.2 Balanitis Circumscripta Plasmacellularis
7.11.2.3 Peyronie Disease
7.11.3 Penile Cysts and Noninvasive Squamous Cell Lesions
7.11.4 Penile Squamous Cell Carcinoma of the Youth
7.11.5 Non-squamous Cell Carcinoma Neoplasms of the Penis
Multiple Choice Questions and Answers
References and Recommended Readings
8: Female Genital System
8.1 Development and Genetics
8.2 Congenital Anomalies of the Female Genital System
8.3 Ovarian Inflammatory and Degenerative Conditions
8.3.1 Oophoritis
8.3.2 Torsion
8.3.3 Non-neoplastic Cystic Lesions
8.3.3.1 Germinal Inclusion Cysts
8.3.3.2 Follicular Cysts
8.3.3.3 Corpus Luteum Cysts
8.3.3.4 Polycystic Change
8.3.3.5 Hyperreactio Luteinalis
8.3.3.6 Epidermoid Cysts
8.3.4 Non-neoplastic Proliferations
8.3.4.1 Endometriosis
8.3.4.2 Endosalpingiosis
8.3.4.3 Stromal Hyperplasia and Stromal Hyperthecosis
8.3.4.4 Hilus Cell Hyperplasia
8.3.4.5 Ectopic Decidual Reaction
8.3.4.6 Massive Edema of the Ovary
8.3.4.7 Fibromatosis Ovarii
8.3.4.8 Pregnancy Luteoma
8.4 Infectious Diseases of the Female Genital System
8.4.1 Viral Diseases
8.4.1.1 Herpes Genitalis
8.4.1.2 Condyloma Acuminatum
8.4.2 Bacterial Diseases
8.4.2.1 Syphilis
8.4.2.2 Gonorrhea
8.4.2.3 Chlamydia Infections
8.4.2.4 Chancroid
8.4.2.5 Granuloma Inguinale
8.4.3 Fungal Diseases
8.4.3.1 Candidiasis
8.4.4 Parasitic Diseases
8.4.4.1 Trichomoniasis
8.5 Inflammatory, Reactive Changes and Degenerative Conditions of Vulva, Vagina, Cervix, Uterus, and Tuba
8.5.1 Non- and Preneoplastic Vulvar and Vaginal Lesions
8.5.1.1 Cystic Lesions of the Vulva
8.5.1.2 Vulvitis, Neovagina, and Urothelial Metaplasia
8.5.1.3 Vulvar Dystrophies
8.5.1.4 Vaginal Adenosis
8.5.1.5 Benign Discolored Lesions of the Vulva
8.5.1.6 Vaginal Pseudotumors
8.5.1.7 Endometriosis Vulvae Sive Vaginae Vel Vulvovagine
8.5.2 Inflammation-Associated Cervical Lesions
8.5.2.1 Infective Cervicitis
8.5.2.2 Non-infective Cervicitis
8.5.2.3 Papillary Endocervicitis
8.5.3 Reactive Changes of the Cervix
8.5.4 Cyst-Associated Cervical Lesions
8.5.5 Ectopia-Associated Cervical Lesions
8.5.6 Pregnancy-Associated Cervical Lesions
8.5.7 Cervical Metaplasias
8.5.8 Non-neoplastic and Preneoplastic Uterine Lesions
8.5.8.1 Dysfunctional Uterine Bleeding
8.5.8.2 Endometritis
8.5.8.3 Endometrial Metaplasias
8.5.8.4 Adenomyosis and Endometriosis
8.5.9 Non-neoplastic Abnormalities of the Tuba
8.6 Tumors of the Ovary
8.6.1 Germ Cell Tumors
8.6.1.1 Dysgerminoma
8.6.1.2 Teratoma
8.6.1.3 Yolk Sac Tumor (YST)/ Endodermal Sinus Tumor (EST)
8.6.1.4 Embryonal Carcinoma
8.6.1.5 Polyembryoma
8.6.1.6 Choriocarcinoma
8.6.2 Surface Epithelial Tumors
8.6.2.1 Serous Tumors
Serous Cystadenoma/Cystadenofibroma
Serous Borderline (Proliferative) Tumors (LMP)
Ovarian Implants and Benign Mimics
Ovarian Serous (Cyst-) Adenocarcinoma (OSCAC/OSAC)
Low-Grade vs. High-Grade Serous Carcinoma
TP53 Gene Mutational Status and Gene Product Expression (p53 IHC)
8.6.2.2 Mucinous Tumors
8.6.2.3 Endometrioid Tumors
8.6.2.4 Clear Cell (Mesonephroid) Tumors
8.6.2.5 Brenner (Transitional Cell) Tumors
8.6.3 Sex Cord-Stromal Tumors
8.6.3.1 Granulosa Cell Tumor
8.6.3.2 Sertoli-Leydig Cell Tumor
8.6.3.3 Steroid/Lipid Cell-Rich Tumor Group
8.6.3.4 Fibroma/Thecoma Group
8.6.3.5 Sclerosing Stromal Tumor
8.6.3.6 Sex Cord Tumor with Annular Tubules
8.6.3.7 Gynandroblastoma
8.6.4 Other Primary Ovarian and Secondary Tumors
8.6.4.1 Gonadoblastoma
8.7 Tumors of the Tuba
8.7.1 Benign Neoplasms
8.7.2 Malignant Neoplasms
8.8 Tumors of the Uterus
8.8.1 Type I/Type II EC
8.8.2 Non-type I/Non-type II EC
8.8.3 Uterine Leiomyoma (ULM) and Variants
8.8.4 Uterine Leiomyosarcoma (ULMS)
8.8.5 Uterine Adenomatoid Tumor
8.8.6 Uterine Lymphangiomyomatosis (ULAM)
8.8.7 Uterine Stroma Tumors
8.8.8 Hematological Malignancies and Secondary Tumors
8.9 Tumors of the Cervix
8.9.1 Benign Neoplasms
8.9.2 Precancerous Conditions and Malignant Neoplasms
8.9.2.1 Cervical Dysplasia
8.9.2.2 Cervical Epidermoid Carcinoma
8.9.2.3 Cervical Adenocarcinoma and Variants
Minimal Deviation Adenocarcinoma
Villoglandular Papillary Carcinoma
Basaloid Carcinoma
Adenoid Basal Carcinoma
Clear Cell Carcinoma
Mesonephric Carcinoma
Adenosquamous (Mixed) Carcinoma
Glassy Cell Carcinoma
Adenoid Cystic Carcinoma
8.9.2.4 Cervical Neuroendocrine Carcinoma (CNEC)
8.10 Tumors of the Vagina
8.10.1 Benign Tumors
8.10.1.1 (Müllerian) Papilloma
8.10.1.2 Vaginal Fibroepithelial Polyp
8.10.1.3 Vaginal Postoperative Spindle (Cell) Nodule (POSN)
8.10.1.4 Other Vaginal Benign Tumors
8.10.2 Precancerous Conditions and Malignant Tumors
8.10.2.1 Vaginal Intraepithelial Neoplasia (VAIN I–III)
8.10.2.2 Vaginal Epidermoid Carcinoma
8.10.2.3 Vaginal Adenocarcinoma
8.10.2.4 Vaginal Rhabdomyosarcoma of Botryoid Type (B-ERMS)
8.10.2.5 Vaginal Yolk Sac Tumor (YST) or Endodermal Sinus Tumor (EST)
8.10.2.6 Other Vaginal Malignant Neoplasms
8.11 Tumors of the Vulva
8.11.1 Benign Neoplasms
8.11.1.1 Condyloma Acuminatum
8.11.1.2 Ectopic Mammary Tissue and Hidradenoma Papilliferum
8.11.1.3 Squamous Papilloma, Vulvar/Vestibular Squamous Papillomatosis, and Fibroepithelial Polyp (Acrochordon)
8.11.1.4 Vulvar Melanocytic Nevi
8.11.1.5 Vulvar Angiomyofibro
8.11.1.6 Vulvar Cellular Angiofibroma (CAF)
8.11.1.7 Other Benign Lesions of the Vulva
8.11.2 Malignant Tumors
8.11.2.1 Precancerous Malignant Conditions
Vulvar Intraepithelial Neoplasia (VIN)
8.11.2.2 Vulvar Epidermoid Carcinoma
8.11.2.3 Vulvar Epidermoid Carcinoma Variants
8.11.2.4 Extramammary Paget disease (EMPD) of the Vulva or Vulvar Paget Disease (VPD)
8.11.2.5 Bartholin Gland Carcinoma and Other Carcinomas
8.11.2.6 Vulvar Aggressive Angiomyxoma
8.11.2.7 Vulvar Epithelioid Sarcoma and Other Sarcomas
8.11.2.8 Vulvar Malignant Melanoma
Multiple Choice Questions and Answers
References and Recommended Readings
9: Breast
9.1 Development and Genetics
9.2 Congenital Anomalies, Inflammatory, and Related Disorders
9.2.1 Amastia, Atelia, Synmastia, Polymastia, and Politelia
9.2.2 Asymmetry, Hypotrophy, and Hypertrophy
9.2.3 Dysmaturity and Precocious Thelarche
9.2.4 Acute Mastitis, Abscess, and Phlegmon
9.2.5 Duct Ectasia, Periductal Mastitis, and Granulomatous Mastitis
9.2.6 Necrosis, Calcifications, and Mondor Disease
9.3 Pathology of the Female and Young Adult
9.3.1 Fibrocystic Disease
9.3.2 Soft Tissue Tumors and Hematological Malignancies
9.3.3 Fibroadenoma
9.3.4 Adenoma
9.3.4.1 Tubular Adenoma
9.3.4.2 Lactating Adenoma
9.3.4.3 Nipple Duct Adenoma (NDA)
9.3.4.4 Syringomatous Adenoma of the Nipple (SAN)
9.3.4.5 Intraductal Papilloma, Papillomatosis, and “Encysted Intraductal Papillary Carcinoma”
9.3.4.6 Ductal Adenoma
9.3.4.7 Apocrine Adenoma
9.3.5 Genetic Background of Breast Cancer
9.3.6 In Situ and Invasive Ductal Breast Carcinoma
9.3.6.1 Ductal Carcinoma In Situ
9.3.6.2 Invasive Ductal Carcinoma
9.3.7 In Situ and Invasive Lobular Breast Carcinoma
9.3.8 WHO Variants of the Infiltrating Ductal Carcinoma
9.3.9 Sweat Gland-Type Tumors and Myoepithelial Tumors
9.3.10 Phyllodes Tumor
9.4 Cancer Mimickers
9.4.1 Hyperplasia, Ductal and Lobular
9.4.2 Adenosis
9.5 Male Breast Disease
9.5.1 Gynecomastia
9.5.2 Breast Cancer of the Male
Multiple Choice Questions and Answers
References and Recommended Readings
10: Hematolymphoid System
10.1 Development and Genetics
10.2 Red Blood Cell Disorders
10.2.1 Anemia
10.2.1.1 Anemia Due to Excessive Blood Turnover
10.2.1.2 Anemia Due to Failure of Blood Production
10.2.2 Polycythemia
10.2.2.1 Primary Polycythemia (aka Polycythemia vera)
10.2.2.2 Secondary Polycythemia
10.3 Coagulation and Hemostasis Disorders
10.3.1 Coagulation and Hemostasis
10.3.2 Coagulation Disorders
10.3.2.1 Coagulation Disorders
10.3.2.2 Acquired Disorders
10.3.3 Platelet Disorders
10.3.3.1 Primary (Essential) Thrombocythemia
10.4 White Blood Cell Disorders
10.4.1 Leukocytopenias and Leukocyte Dysfunctionalities
10.4.2 Non-neoplastic Leukocytosis
10.4.3 Leukemia (Neoplastic Leukocytosis) or Virchow’s “Weisses Blut”
10.4.3.1 Acute Lymphoblastic (Lymphocytic) Leukemia (ALL)
10.4.3.2 Chronic Lymphocytic Leukemia (CLL)
10.4.3.3 Acute Myeloblastic (Myelocytic) Leukemia (AML)
10.4.3.4 Chronic Myelocytic Leukemia (CML)
10.4.3.5 Myeloid Sarcoma
10.4.3.6 Hairy Cell Leukemia (HCL)
10.4.3.7 Transient Atypical Myelopoiesis (TAM)
10.4.4 Myelodysplastic Syndromes
10.4.5 Hodgkin Lymphoma
10.4.6 Non-Hodgkin Lymphomas
10.4.7 Follicular Lymphoma
10.4.8 Small Lymphocytic Lymphoma
10.4.9 Mantle Cell Lymphoma (MCL)
10.4.10 Marginal Cell Lymphoma
10.4.11 Diffuse Large B-Cell Lymphoma (DLBCL)
10.4.12 Lymphoblastic Lymphoma
10.4.13 Burkitt Lymphoma
10.4.14 Peripheral T-Cell Lymphoma
10.4.15 Anaplastic Large Cell Lymphoma
10.4.16 Adult T-Cell Leukemia/Lymphoma
10.4.17 Cutaneous T-Cell Lymphoma (CTCL)
10.4.18 Angiocentric Immunoproliferative Lesions
10.4.19 Extranodal NK-/T-Cell Lymphoma
10.5 Disorders of the Monocyte-Macrophage System and Mast Cells
10.5.1 Hemophagocytic Syndrome
10.5.2 Sinus Histiocytosis with Massive Lymphadenopathy (Rosai-Dorfman Disease)
10.5.3 Langerhans Cell Histiocytosis
10.5.4 Histiocytic Medullary Reticulosis
10.5.5 True Histiocytic Lymphoma
10.5.6 Systemic Mastocytosis
10.6 Plasma Cell Disorders
10.6.1 Multiple Myeloma
10.6.2 Solitary Myeloma
10.6.3 Plasma Cell Leukemia
10.6.4 Waldenstrom’s Macroglobulinemia
10.6.5 Heavy Chain Disease
10.6.6 Monoclonal Gammopathy of Undetermined Significance (MGUS)
10.7 Benign Lymphadenopathies
10.7.1 Follicular Hyperplasia
10.7.1.1 Nonspecific Reactive Lymphadenitis
10.7.1.2 Toxoplasmosis
10.7.1.3 Rheumatoid Arthritis and Sjögren Disease
10.7.1.4 Systemic Lupus Erythematosus (SLE) Lymphadenopathy
10.7.1.5 Necrotizing Lymphadenitis (Kikuchi-Fujimoto Lymphadenitis)
10.7.1.6 Cat-Scratch Disease
10.7.1.7 Lymphogranuloma Venereum
10.7.1.8 Kimura Disease
10.7.1.9 Syphilis
10.7.1.10 Castleman Disease
10.7.1.11 Progressive Transformation of Germinal Centers (PTGC)
10.7.1.12 AIDS-Related Lymphadenopathy
10.7.2 Diffuse (Paracortical) Hyperplasia
10.7.2.1 ALPS
10.7.2.2 Postvaccinal Viral Lymphadenitis
10.7.2.3 Infectious Mononucleosis
10.7.2.4 Dermatopathic Lymphadenitis
10.7.3 Sinus Pattern
10.7.3.1 Sinus Histiocytosis
10.7.3.2 Sinus Histiocytosis with Massive Lymphadenopathy
10.7.3.3 Lipophagic Reactions
10.7.3.4 Vascular Transformation of LN Sinuses
10.7.4 Predominant Granulomatous Pattern
10.7.4.1 Tuberculosis
10.7.4.2 Atypical Mycobacteriosis
10.7.4.3 Sarcoidosis (See Lung) Lymphadenopathy
10.7.4.4 Fungal Infections
10.7.4.5 Chronic Granulomatous Disease
10.7.5 Other Myxoid Patterns
10.7.5.1 Kawasaki Disease
10.7.5.2 Leprosy
10.7.5.3 Mesenteric Lymphadenitis
10.7.6 Angioimmunoblastic Lymphadenopathy with Dysproteinemia (AILD)
10.8 Disorders of the Spleen
10.8.1 White Pulp Disorders of the Spleen
10.8.1.1 Reactive Follicular Hyperplasia
10.8.1.2 Reactive Non-follicular Lymphoid Hyperplasia
10.8.1.3 Chronic Lymphocytic Anemia
10.8.1.4 Malignant Lymphomas
10.8.2 Red Pulp Disorders of the Spleen
10.8.2.1 Congestion
10.8.2.2 Infection
10.8.2.3 Leukemia
10.8.2.4 Histiocytic Proliferations
10.9 Disorders of the Thymus
10.9.1 Thymic Cysts and Thymolipoma
10.9.2 True Thymic Hyperplasia and Thymic Follicular Hyperplasia
10.9.3 HIV Changes
10.9.4 Thymoma
Multiple Choice Questions and Answers
References and Recommended Readings
11: Endocrine System
11.1 Development and Genetics
11.2 Pituitary Gland Pathology
11.2.1 Congenital Anomalies of the Pituitary Gland
11.2.2 Vascular and Degenerative Changes
11.2.3 Pituitary Adenomas and Hyperpituitarism
11.2.3.1 Classification of Pituitary Adenomas
11.2.3.2 Pituitary Tumor Morphology
11.2.3.3 Clinical Course of Pituitary Neoplasia
11.2.4 Genetic Syndromes Associated with Pituitary Adenomas
11.2.5 Hypopituitarism (Simmonds Disease)
11.2.6 Empty Sella Syndrome (ESS)
11.2.7 Neurohypophysopathies (Disorders of the Posterior Pituitary Gland)
11.2.7.1 Diabetes Insipidus
11.2.7.2 ADH Hypersecretion
11.3 Thyroid Gland Pathology
11.3.1 Congenital Anomalies, Hyperplasia, and Thyroiditis
11.3.2 Congenital Anomalies, Goiter, and Dysfunctional Thyroid Gland
11.3.2.1 Congenital Anomalies of the Thyroid Gland
11.3.2.2 Dysfunctional Thyroid Gland and Dyshormonogenetic Goiter
11.3.2.3 Graves Disease (Diffuse Hyperplasia)
11.3.2.4 Multinodular Goiter
11.3.3 Inflammatory and Immunologic Thyroiditis
11.3.3.1 Acute Thyroiditis
11.3.3.2 Granulomatous (Subacute) Thyroiditis
11.3.3.3 Autoimmune Thyroiditis
11.3.3.4 IgG4-Related Thyroiditis and Riedel’s Thyroiditis
11.3.4 Epithelial Neoplasms of the Thyroid Glands
11.3.4.1 Follicular Thyroid Adenoma
11.3.4.2 Follicular Thyroid Carcinoma
11.3.4.3 Papillary Thyroid Carcinoma
11.3.4.4 Medullary Thyroid Carcinoma
11.3.4.5 Hürthle Cell Tumors
11.3.4.6 Poorly Differentiated Thyroid Carcinoma
11.3.4.7 Anaplastic Thyroid Carcinoma
11.3.4.8 Other Epithelial Tumors
11.3.4.9 Non-epithelial Neoplasms
11.3.4.10 Secondary (Metastatic) Tumors
11.4 Parathyroid Gland Pathology
11.4.1 Congenital Anomalies of the Parathyroid Glands
11.4.2 Parathyroid Gland Hyperplasia
11.4.3 Parathyroid Gland Adenoma
11.4.4 Parathyroid Gland Carcinoma
11.5 Adrenal Gland Pathology
11.5.1 Congenital Anomalies of the Adrenal Gland and Paraganglia
11.5.2 Dysfunctional Adrenal Gland
11.5.3 Adrenalitis
11.5.4 Neoplasms of the Adrenal Gland and Paraganglia
11.5.4.1 Adrenocortical Adenoma
11.5.4.2 Adrenal Cortical Carcinoma
11.5.4.3 Neuroblastoma, Ganglioneuroblastoma, and Ganglioneuroma
11.5.4.4 Pheochromocytoma and Paraganglioma
11.5.4.5 Other Tumors and Secondary Tumors
11.5.5 Syndromes Associated with Adrenal Cortex Abnormalities
Multiple Choice Questions and Answers
References and Recommended Readings
12: Soft Tissue
12.1 Development and Genetics
12.2 Vascular and Inflammatory Changes of Soft Tissue
12.2.1 Hyperemia
12.2.2 Necrotizing Fasciitis
12.2.3 Vasculitis-Associated Soft Tissue Changes
12.2.4 Miscellaneous
12.3 Soft Tissue Neoplasms: Scoring
12.4 Adipocytic Tumors
12.4.1 Lipoma
12.4.2 Lipoma Subtypes
12.4.3 Lipomatosis
12.4.4 Lipoblastoma
12.4.5 Hibernoma
12.4.6 Locally Aggressive and Malignant Adipocytic Tumors
12.4.6.1 Atypical Lipomatous Tumor/Well-Differentiated Liposarcoma
12.4.6.2 Myxoid/Round Cell Liposarcoma
12.4.6.3 Pleomorphic Liposarcoma
12.4.6.4 Dedifferentiated Liposarcoma
12.5 Fibroblastic/Myofibroblastic Tumors
12.5.1 Fasciitis/Myositis Group
12.5.1.1 Nodular Fasciitis
12.5.2 Fibroma Group
12.5.2.1 Nuchal-Type Fibroma (NTF)
12.5.2.2 Gardner Fibroma
12.5.2.3 Nasopharyngeal Fibroma
12.5.2.4 Ovarian Fibroma
12.5.2.5 Fibroma of Tendon Sheath
12.5.2.6 Elastofibroma
12.5.2.7 “Genital” Cellular Angiofibroma (GCAF)
12.5.2.8 Keloid
12.5.3 Fibroblastoma Classic and Subtypes
12.5.3.1 Desmoplastic Fibroblastoma (DFB)
12.5.3.2 Giant Cell Fibroblastoma (GCFB)
12.5.3.3 Angio-Myofibroblastoma (AMFB)
12.5.3.4 Mammary-Type Myofibroblastoma (MTMFB)
12.5.4 Fibrous Hamartoma of Infancy (FHI)
12.5.5 Fibromatosis of Childhood
12.5.5.1 Fibromatosis Colli (FCO)
12.5.5.2 Infantile Digital Fibromatosis
12.5.5.3 Infantile Fibromatosis, Desmoid Type
12.5.5.4 Juvenile Hyaline Fibromatosis
12.5.5.5 Gingival Fibromatosis
12.5.6 Infantile Myofibroma/Myofibromatosis
12.5.7 Fibroblastic/Myofibroblastic Tumors with Intermediate Malignant Potential
12.5.7.1 Solitary Fibrous Tumor, Hemangiopericytoma, and Giant Cell Angiofibroma
Giant Cell Angiofibroma (GCAF)
12.5.7.2 Inflammatory Myofibroblastic Tumor
12.5.7.3 Low-Grade Myofibroblastic Sarcoma (LGMFS)
12.5.7.4 Myxo-inflammator Fibroblastic Sarcoma (MIFS)
12.5.7.5 Infantile Fibrosarcoma
12.5.8 Malignant Fibroblastic/Myofibroblastic Tumors
12.5.8.1 Adult Fibrosarcoma (AFS)
12.5.8.2 Myxofibrosarcoma
12.5.8.3 Low-Grade Fibro-Myxoid Sarcoma (LGFMS)
12.5.8.4 Sclerosing Epithelioid Fibrosarcoma
12.6 Fibrohistiocytic Tumors
12.6.1 Histiocytoma
12.6.1.1 Juvenile Xanthogranuloma
12.6.1.2 Reticulohistiocytoma
12.6.2 Benign Fibrous Histiocytoma
12.6.2.1 Dermatofibroma
12.6.2.2 Giant Cell Tumor of Tendon Sheath (GCTTS)
12.6.2.3 Pigmented Villonodular Synovitis or Diffuse-Type Giant Cell Tumor
12.6.2.4 Cellular Fibrous Histiocytoma
Plexiform Fibrohistiocytic Tumor
Giant Cell Tumor of Soft Tissues
12.6.3 Borderline Fibrous Histiocytoma
12.6.4 Malignant Fibrous Histiocytoma
12.7 Smooth Muscle Tumors
12.7.1 Leiomyoma
12.7.2 EBV-Related Smooth Muscle Tumors
12.7.3 Leiomyosarcoma
12.8 Pericytic Tumors
12.8.1 Glomus Tumor
12.8.2 Glomangiosarcoma
12.8.3 Myopericytoma
12.9 Skeletal Muscle Tumors
12.9.1 Rhabdomyomatous Mesenchymal Hamartoma (RMH)
12.9.2 Rhabdomyoma
12.9.3 Rhabdomyosarcoma
12.9.3.1 Embryonal RMS
12.9.3.2 Botryoid RMS
12.9.3.3 Spindle-Cell RMS
12.9.3.4 Alveolar RMS
12.9.4 Pleomorphic RMS
12.9.4.1 Late Effects of Childhood Cancer Therapy
12.10 Vascular Tumors
12.10.1 Benign Vascular Tumors
12.10.1.1 Hemangioma
12.10.1.2 Hemangioma Variants
12.10.1.3 Lymphangioma
12.10.2 Vascular Tumors with Intermediate Malignant Potential
12.10.2.1 Hemangioendothelioma
Hemangioendothelioma Variants
12.10.2.2 Kaposi Sarcoma
12.10.3 Malignant Vascular Tumors
12.10.3.1 Epithelioid Hemangioendothelioma
12.10.3.2 Angiosarcoma
12.10.4 Genetic Syndromes Associated with Vascular Tumors
12.11 Chondro-Osteoforming Tumors
12.11.1 Extraskeletal Chondroma
12.11.2 Extraskeletal Myxoid Chondrosarcoma
12.11.3 Mesenchymal Chondrosarcoma
12.11.4 Extraskeletal Aneurysmatic Bone Cyst
12.11.5 Extraskeletal Osteosarcoma (ESOS)
12.11.6 Extraskeletal Chordoma
12.12 Tumors of Uncertain Differentiation
12.12.1 Myxoma
12.12.2 Myoepithelial Carcinoma
12.12.3 Parachordoma
12.12.4 Synovial Sarcoma
12.12.5 Epithelioid Sarcoma
12.12.6 Alveolar Soft Part Sarcoma
12.12.7 Clear Cell Sarcoma
12.12.8 Extraskeletal Myxoid Chondrosarcoma (ESMC)
12.12.9 PNET/Extraskeletal Ewing Sarcoma (ESES)
12.12.10 Desmoplastic Small Round Cell Tumor
12.12.11 Extrarenal Rhabdoid Tumor
12.12.12 Malignant Mesenchymoma
12.12.13 PEComa
12.12.14 Extrarenal Wilms’ Tumor
12.12.15 Sacrococcygeal Teratoma and Extragonadal Germ Cell Tumor and Yolk Sac Tumor
Multiple Choice Questions and Answers
References and Recommended Readings
13: Arthro-Skeletal System
13.1 Development and Genetics
13.2 Osteochondrodysplasias
13.2.1 Nosology and Nomenclature
13.2.2 Groups of Genetic Skeletal Disorders
13.2.2.1 Thanatophoric Dysplasia
13.3 Metabolic Skeletal Diseases
13.3.1 Rickets, and Osteomalacia
13.3.1.1 Vitamin D Deficiency
13.3.2 Osteoporosis of the Youth
13.3.3 Paget Disease of the Bone
13.3.4 Juvenile Paget Disease
13.4 Osteitis and Osteomyelitis
13.4.1 Osteomyelitis
13.5 Osteonecrosis
13.5.1 Bony Infarct and Osteochondritis Dissecans
13.5.1.1 Bony Infarct
13.5.1.2 Osteochondritis Dissecans
13.6 Tumorlike Lesions and Bone/Osteoid-Forming Tumors
13.6.1 Myositis Ossificans
13.6.2 Fibrous Dysplasia and Osteofibrous Dysplasia
13.6.2.1 Fibrous Dysplasia
13.6.2.2 Osteofibrous Dysplasia (OFD)
13.6.3 Non-ossifying Fibroma (NOF)
13.6.4 Bone Cysts
13.6.4.1 Simple Bone Cyst
13.6.4.2 Aneurysmal Bone Cyst
13.6.5 Osteoma, Osteoid Osteoma, and Giant Osteoid Osteoma
13.6.5.1 Osteoma
13.6.5.2 Osteoid Osteoma
13.6.5.3 Giant Osteoid Osteoma (GOO)
13.6.6 Giant Cell Tumor
13.6.7 Osteosarcoma
13.7 Chondroid (Cartilage)-Forming Tumors
13.7.1 Osteochondroma
13.7.2 Enchondroma
13.7.3 Chondroblastoma
13.7.4 Chondromyxoid Fibroma
13.7.5 Chondrosarcoma
13.8 Bone Ewing Sarcoma
13.9 Miscellaneous Bone Tumors
13.9.1 Chordoma
13.9.2 Adamantinoma
13.9.3 Langerhans Cell Histiocytosis
13.9.4 Vascular, Smooth Muscle, and Lipogenic Tumors
13.9.5 Hematologic Tumors
13.10 Metastatic Bone Tumors
13.11 Juvenile Rheumatoid Arthritis and Juvenile Arthropathies
13.11.1 Rheumatoid Arthritis and Juvenile Rheumatoid Arthritis
13.11.1.1 Rheumatoid Arthritis
13.11.1.2 Juvenile Rheumatoid Arthritis
13.11.2 Infectious Arthritis
13.11.3 Gout, Early-Onset Juvenile Tophaceous Gout and Pseudogout
13.11.3.1 Gout
13.11.3.2 Early-Onset Juvenile (Tophaceous) Gout (EOJG)
13.11.3.3 Pseudogout
13.11.4 Bursitis, Baker Cyst, and Ganglion
13.11.4.1 Bursitis
13.11.4.2 Baker Cyst
13.11.4.3 Ganglion
13.11.5 Pigmented Villonodular Synovitis and Nodular Tenosynovitis
13.11.5.1 Pigmented Villonodular Synovitis (PVNS)
13.11.5.2 Nodular Tenosynovitis (NTS)
Multiple Choice Questions and Answers
References and Recommended Readings
14: Head and Neck
14.1 Development
14.2 Nasal Cavity, Paranasal Sinuses, and Nasopharynx
14.2.1 Congenital Anomalies
14.2.2 Inflammatory Lesions
14.2.2.1 Nasal Polyposis
14.2.3 Tumors
14.2.3.1 Benign Epithelial Tumors
Sinonasal Papilloma
14.2.3.2 Malignant Epithelial Tumors
Nasopharyngeal Carcinoma
14.2.3.3 Benign Mesenchymal Tumors
Nasopharyngeal Angiofibroma (NAF)
14.2.3.4 Other Tumors
Bone/Cartilaginous Forming Tumors
Hematolymphoid Tumors
Extranodal NK/T-Cell Lymphoma (EN-NK/T-NHL)
Diffuse Large B-Cell Lymphoma (DLBCL)
Extramedullary Myeloid Sarcoma (EMS)
Langerhans Cell Histiocytosis (LCH)
Neuroectodermal Tumors
PNET/Ewing Sarcoma
Esthesioneuroblastoma
Melanotic Neuroectodermal Tumor of Infancy (MNETI)
Mucosal Malignant Melanoma
Germ Cell Tumors
Secondary Tumors
14.3 Larynx and Trachea
14.3.1 Congenital Anomalies
14.3.1.1 Thyroglossal Duct Cyst and Laryngeal Disturbances
14.3.1.2 Laryngomalacia
14.3.2 Cysts and Laryngoceles
14.3.3 Inflammatory Lesions and Non-neoplastic Lesions
14.3.3.1 Acute Epiglottitis
14.3.3.2 Chronic Laryngitis
14.3.3.3 Granulomatous Laryngitis
14.3.3.4 Laryngeal Nodule
14.3.3.5 Contact Ulcers of Larynx
14.3.4 Tumors
14.3.4.1 Papilloma (Juvenile Laryngeal Papilloma)
14.3.4.2 Laryngeal Carcinoma
14.4 Oral Cavity and Oropharynx
14.4.1 Congenital Anomalies
14.4.1.1 Gingival Cysts
14.4.1.2 Epstein Pearls
14.4.1.3 Bohn’s Nodules
14.4.1.4 Eruption Cyst
14.4.1.5 Epidermoid and Dermoid Cysts
14.4.1.6 Maxillary Osteomyelitis of the Newborn
14.4.1.7 Neonatal Herpes Simplex Virus Infection
14.4.1.8 Neonatal Candidiasis
14.4.1.9 Mucocele
14.4.1.10 Ranula
14.4.1.11 Riga-Fede Disease
14.4.1.12 Neonatal Pemphigus Vulgaris
14.4.1.13 Oral Choristoma
14.4.2 Branchial Cleft Cysts
14.4.3 Inflammatory Lesions
14.4.4 Tumors
14.4.4.1 Epithelial Precursor Lesions
14.4.4.2 Benign Epithelial Tumors
14.4.4.3 Malignant Epithelial Tumors
14.4.4.4 Soft Tissue Tumors
Congenital Epulis of Newborn
Pyogenic Granuloma (Lobular Capillary Hemangioma)
Hemangioma
Lymphangioma
Langerhans Cell Histiocytosis X (LCH)
14.4.4.5 Hematolymphoid Tumors, Non-LCH
Extramedullary Myeloid Sarcoma (EMS)
14.4.4.6 Other Malignant Neoplasms
14.5 Salivary Glands
14.5.1 Congenital Anomalies
14.5.2 Inflammatory Lesions and Non-neoplastic Lesions
14.5.3 Tumors
14.5.3.1 Benign Tumors
14.5.3.2 Malignant Epithelial Tumors
14.5.3.3 Soft Tissue Tumors
14.5.3.4 Hematolymphoid Tumors
14.5.3.5 Secondary Tumors
14.6 Mandible and Maxilla
14.6.1 Odontogenic Cysts
14.6.1.1 Radicular Cyst
14.6.1.2 Paradental Cyst
14.6.1.3 Dentigerous (Follicular) Cyst
14.6.1.4 Odontogenic Keratocyst
14.6.2 Odontogenic Tumors
14.6.2.1 Ameloblastoma (Adamantinoma)
14.6.2.2 Calcifying Epithelial Odontogenic Tumor
14.6.2.3 Odontogenic Fibroma
Mixed Odontogenic Tumors
14.6.3 Bone-Related Lesions
14.7 Ear
14.7.1 Congenital Anomalies
14.7.2 Inflammatory Lesions and Non-neoplastic Lesions
14.7.2.1 Acute Otitis Media (AOM)
14.7.3 Tumors
14.7.3.1 Tumors of the External Ear
RMS and Bony Lesions
14.7.3.2 Tumors of the Middle Ear
14.7.3.3 Tumors of the Inner Ear
14.8 Eye and Ocular Adnexa
14.8.1 Congenital Anomalies
14.8.2 Inflammatory Lesions and Non-neoplastic Lesions
14.8.3 Tumors
14.8.3.1 Retinoblastoma and Related Lesions
14.9 Skull
Multiple Choice Questions and Answers
References and Recommended Readings
15: Central Nervous System
15.1 Development: Genetics
15.1.1 Development and Genetics
15.1.2 Neuromeric Model of the Organization of the Embryonic Forebrain According to Puelles and Rubenstein
15.2 Congenital Abnormalities of the Central Nervous System
15.2.1 Ectopia
15.2.2 Neural Tube Defects (NTDs)
15.2.2.1 Spina Bifida
15.2.2.2 Meningocele/Meningomyelocele
15.2.2.3 Arnold-Chiari Malformation (ACM)/Chiari II Malformation
15.2.2.4 Anencephaly
15.2.3 Prosencephalon Defects
15.2.4 Vesicular Forebrain (Pseudo-aprosencephaly)
15.2.5 Ventriculomegaly/Hydrocephalus
15.2.6 Agenesis of the Corpus Callosum (ACC)
15.2.7 Cerebellar Malformations
15.2.8 Agnathia Otocephaly Complex (AGOTC)
15.2.9 Telencephalosynapsis (Synencephaly) and Rhombencephalon Synapsis
15.2.10 CNS Defects in Acardia
15.2.11 CNS Defects in Chromosomal and Genetic Syndromes
15.2.11.1 Cornelia De Lange Syndrome (CDLS)
15.2.12 Neuronal Migration Disorders
15.2.13 Phakomatoses
15.2.13.1 Tuberous Sclerosis Complex (TSC)
15.2.13.2 Neurofibromatosis (NF)
15.2.13.3 Von Hippel-Lindau Syndrome (VHLS)
15.2.13.4 Sturge-Weber Syndrome (SWS)
15.2.13.5 Wyburn-Mason Syndrome (WMS)
15.3 Vascular Disorders of the Central Nervous System
15.3.1 Intracranial Hemorrhage
15.3.1.1 Intraparenchymal Hemorrhage (IPH)
15.3.1.2 Subarachnoidal Hemorrhage (SAH)
15.3.1.3 Subdural Hemorrhage (SDH)
15.3.1.4 Epidural Hemorrhage (EDH)
15.3.2 Vascular Malformations
15.3.2.1 Arteriovenous Malformations (AVM)
15.3.3 Aneurysms
15.3.3.1 Berry Aneurysms
15.3.3.2 Mycotic Aneurysms
15.3.3.3 Arteriosclerotic Aneurysms
15.3.4 Thrombosis of Venous Sinuses and Cerebral Veins
15.3.5 Pediatric and Inherited Neurovascular Diseases
15.3.5.1 Cerebral Cavernous Malformations (CCM)
15.3.5.2 Hereditary Hemorrhagic Telangiectasia (HHT)
15.4 Infections of the CNS
15.4.1 Suppurative Infections
15.4.1.1 Acute Suppurative (Lepto-)Meningitis
15.4.1.2 Brain Abscess
15.4.1.3 Septic Thrombophlebitis
15.4.2 Tuberculous (Lepto-)Meningitis
15.4.3 Neurosyphilis
15.4.4 Viral Infections
15.4.4.1 Poliomyelitis
15.4.4.2 Rabies
15.4.4.3 Herpes Simplex Encephalitis
15.4.4.4 Subacute Sclerosing Panencephalitis (SSPE)
15.4.4.5 Progressive Multifocal Leukoencephalopathy (PML)
15.4.4.6 Human Immunodeficiency Virus (HIV): Infection
15.4.5 Toxoplasmosis
15.4.6 Fungal Infections
15.5 Metabolic Disorders Affecting the CNS
15.5.1 Pernicious Anemia
15.5.2 Wernicke Encephalopathy
15.6 Trauma to the Head and Spine
15.7 Head Injuries
15.7.1 Epidural Hematoma
15.7.2 Subdural Hematoma
15.7.3 Subarachnoidal Hemorrhage
15.7.3.1 Brain Concussion
15.7.3.2 Brain Contusion
15.7.3.3 Brain Laceration
15.7.4 Spinal Injuries
15.7.5 Intervertebral Disk Herniation
15.8 Demyelinating Diseases Involving the Central Nervous System
15.8.1 Multiple Sclerosis
15.8.2 Leukodystrophies
15.8.2.1 Metachromatic Leukodystrophy
15.8.2.2 Globoid Cell Leukodystrophy (Krabbe Disease)
15.8.2.3 Adrenoleukodystrophy
15.8.3 Amyotrophic Lateral Sclerosis
15.8.4 Werdnig-Hoffmann Disease
15.8.5 Syringomyelia
15.8.6 Parkinson Disease and Parkinson Disease-Associated, G-Protein-Coupled Receptor 37 (GPR37/PaelR)-Related Autism Spectrum Disorder
15.8.7 Creutzfeldt-Jakob Disease (sCJD or Sporadic), CJD-Familial and CJD-Variant
15.8.8 West Syndrome/Infantile Spasms, ACTH Therapy, and Sudden Death
15.9 Neoplasms of the Central Nervous System
15.9.1 Astrocyte-Derived Neoplasms
15.9.1.1 Astrocytoma
15.9.1.2 Pilocytic Astrocytoma
15.9.1.3 Glioblastoma Multiforme (GBM)
15.9.1.4 Oligodendroglioma
15.9.2 Ependymoma
15.9.3 Medulloblastoma
15.9.4 Meningioma
15.9.5 Hemangioblastoma and Filum Terminale Hamartoma
15.9.6 Schwannoma
15.9.7 Craniopharyngioma
15.9.8 Chordoma
15.9.9 Tumors of the Pineal Body
15.9.10 Hematological Malignancies
15.9.11 Other Tumors and Metastatic Tumors
Multiple Choice Questions and Answers
References and Recommended Readings
16: Peripheral Nervous System
16.1 Development
16.2 Disorders of the Peripheral Nervous System
16.2.1 Peripheral Neuropathy
16.2.2 Traumatic Neuropathy
16.2.3 Vascular Neuropathy
16.2.4 Intoxication-Related Neuropathy
16.2.5 Infiltration (e.g., Amyloid) Related Neuropathy
16.2.6 Neoplasms of the Peripheral Nervous System
16.2.6.1 Schwannoma
16.2.6.2 Neurofibroma (Figs. 16.2 and 16.3)
16.2.6.3 Malignant Peripheral Nerve Sheath Tumor (Figs. 16.4, 16.5, 16.6, 16.7, and 16.8)
16.3 Neuromuscular Disorders
16.3.1 Muscle Biopsy Test
16.3.2 Neurogenic Disorders
16.3.2.1 Denervation (Figs. 16.9 and 16.10)
16.3.2.2 Myasthenia Gravis
16.3.3 Myopathic Disorders
16.3.3.1 Muscular Dystrophies
16.3.3.2 Congenital Myopathies
16.3.4 Glycogen Storage Diseases
16.3.5 Mitochondrial Myopathies (Fig. 16.11)
16.3.6 Inflammatory Myopathies: Non-infectious
16.3.7 Inflammatory Myopathies: Infectious
Multiple Choice Questions and Answers
References and Recommended Readings
17: Skin
17.1 Development, General Terminology, and Congenital Skin Defects
17.1.1 Development
17.1.2 General Terminology
17.1.3 Lethal Congenital Contractural Syndromes
17.2 Spongiotic Dermatitis
17.2.1 Conventional Spongiosis
17.2.1.1 Atopic Dermatitis
17.2.1.2 Allergic Contact Dermatitis
17.2.1.3 Seborrheic Dermatitis
17.2.1.4 Nummular Dermatitis
17.2.1.5 Stasis Dermatitis
17.2.1.6 Pityriasis Alba
17.2.1.7 Pityriasis Rosea
17.2.1.8 Papular Acrodermatitis of Gianotti-Crosti
17.2.1.9 Erythema Neonatorum
17.2.1.10 Incontinentia Pigmenti
17.2.2 Eosinophilic Spongiosis
17.2.3 Follicular Spongiosis
17.2.4 Miliarial Spongiosis
17.3 Interface Dermatitis
17.3.1 Vacuolar Interface Dermatitis
17.3.1.1 Lupus: SLE/Discoid Lupus
17.3.1.2 Dermatomyositis
17.3.1.3 Pityriasis Lichenoides Et Varioliformis Acuta (PLEVA)
17.3.1.4 Erythema Multiforme
17.3.1.5 Toxic Epidermal Necrolysis (TEN)/Stevens-Johnson Syndrome (SJS)
17.3.1.6 Graft Versus Host Disease (GVHD)
17.3.1.7 Fixed Drug Eruption
17.3.1.8 Lichen Sclerosus et Atrophicus (LSA)
17.3.1.9 Infections
17.3.2 Lichenoid Interface Dermatitis
17.4 Psoriasis and Psoriasiform Dermatitis
17.4.1 Psoriasis
17.4.2 Psoriasiform Dermatitis
17.5 Perivascular In Toto Dermatitis (PID)
17.5.1 Urticaria
17.5.2 Non-urticaria Superficial and Deep Perivascular Dermatitis
17.5.2.1 Autoinflammatory Syndromes
17.6 Nodular and Diffuse Cutaneous Infiltrates
17.6.1 Granuloma Annulare
17.6.2 Necrobiosis Lipoidica Diabeticorum (NLD)
17.6.3 Rheumatoid Nodule
17.6.4 Sarcoid
17.7 Intraepidermal Blistering Diseases
17.7.1 Pemphigus Vulgaris, Pemphigus Foliaceus, and Pemphigus Paraneoplasticus
17.7.1.1 Pemphigus Vulgaris
17.7.1.2 Pemphigus Foliaceus
17.7.1.3 Pemphigus Paraneoplasticus
17.7.2 IgA Pemphigus and Impetigo
17.7.2.1 IgA Pemphigus
17.7.2.2 Impetigo
17.7.3 Intraepidermal Blistering Diseases
17.7.3.1 Darier Disease
17.7.3.2 Grover Disease
17.7.3.3 Hailey-Hailey Disease
17.8 Subepidermal Blistering Diseases
17.8.1 Bullous Pemphigoid and Epidermolysis Bullosa
17.8.1.1 Bullous Pemphigoid
17.8.1.2 Epidermolysis Bullosa
17.8.2 Erythema Multiforme and Toxic Epidermal Necrolysis
17.8.3 Hb-Related Porphyria Cutanea Tarda, Herpes Gestationis, and Dermatitis Herpetiformis
17.8.4 Lupus (Systemic Lupus Erythematodes)
17.9 Vasculitis
17.10 Cutaneous Appendages Disorders
17.11 Panniculitis
17.11.1 Septal Panniculitis
17.11.1.1 Erythema Nodosum
17.11.2 Lobular Panniculitis
17.11.2.1 Vasculitis-Associated Lobular Panniculitis (Erythema induratum)
17.12 Cutaneous Adverse Drug Reactions
17.12.1 Exanthematous CADR
17.12.1.1 Urticaria-Like CADR
17.12.1.2 Fixed Drug Eruptions
17.12.1.3 Photosensitivity-Driven CADR (P-CADR)
17.12.1.4 Serum Sickness- Like CADR (SSLR)
17.13 Dyskeratotic, Non-/Pauci-Inflammatory Disorders
17.14 Non-dyskeratotic, Non-/Pauci-Inflammatory Disorders
17.15 Infections and Infestations
17.16 Cutaneous Cysts and Related Lesions
17.17 Tumors of the Epidermis
17.17.1 Epidermal Nevi and Related Lesions
17.17.1.1 Morphea
17.17.2 Pseudoepitheliomatous Hyperplasia (PEH)
17.17.3 Acanthoses/Acanthomas/Keratoses
17.17.3.1 Acrochordons
17.17.3.2 Fibrokeratoma, Acquired, Digital
17.17.3.3 Lichenoid Keratosis
17.17.3.4 Cutaneous Horn
17.17.3.5 Acanthosis Nigricans
17.17.3.6 Leukoplakia
17.17.3.7 Seborrheic Keratosis
17.17.3.8 Actinic (Solar) Keratosis
17.17.4 Keratinocyte Dysplasia
17.17.5 Intraepidermal Carcinomas
17.17.5.1 Bowen Disease
17.17.5.2 Erythroplasia of Queyrat
17.17.5.3 Bowenoid Papulosis
17.17.6 Keratoacanthoma
17.17.7 Malignant Tumors
17.17.7.1 Invasive Squamous Cell Carcinoma
17.17.7.2 Basal Cell Carcinoma
17.17.7.3 Paget Disease
17.18 Melanocytic Lesions
17.18.1 Lentigines, Solar Lentigo, Lentigo Simplex, and Melanotic Macules (Box 17.8)
17.18.2 Melanocytic Nevi
17.18.3 Variants of Melanocytic Nevi
17.18.4 Spitz Nevus and Variants
17.18.5 Atypical Melanocytic (Dysplastic) Nevi
17.18.6 Malignant Melanoma and Variants
17.19 Sebaceous and Pilar Tumors
17.19.1 Sebaceous Hyperplasia
17.19.2 Nevus Sebaceous (of Jadassohn) (NSJ)
17.19.3 Sebaceous Adenoma, Sebaceoma, and Xanthoma
17.19.4 Sebaceous Carcinoma
17.19.5 Benign Hair Follicle Tumors
17.19.5.1 Pilar Sheath Acanthoma
17.19.5.2 Trichilemmoma
17.19.5.3 Trichofolliculoma
17.19.5.4 Trichoepithelioma
17.19.5.5 Pilomatrixoma
17.19.5.6 Piloleiomyoma
17.19.6 Malignant Hair Follicle Tumors
17.20 Sweat Gland Tumors
17.20.1 Eccrine Gland Tumors
17.20.1.1 Cylindroma
17.20.1.2 Syringoma
17.20.1.3 Chondroid Syringoma
17.20.1.4 Eccrine Poroma
17.20.1.5 Eccrine Acrospiroma
17.20.1.6 Eccrine Spiradenoma
17.20.1.7 Eccrine Carcinoma
17.20.2 Apocrine Gland Tumors
17.20.2.1 Syringocystadenoma Papilliferum
17.20.2.2 Apocrine Tubular Adenoma
17.20.2.3 Hidradenoma Papilliferum
17.21 Fibrous and Fibrohistiocytic Tumors
17.21.1 Hypertrophic Scar and Keloid
17.21.2 Dermatofibroma
17.21.3 Juvenile Xanthogranuloma
17.21.4 Dermatofibrosarcoma Protuberans
17.22 Vascular Tumors (Fig. 17.13)
17.23 Tumors of Adipose Tissue, Muscle, Cartilage, and Bone
17.24 Neural and Neuroendocrine Tumors
17.24.1 Merkel Cell Carcinoma
17.24.2 Paraganglioma
17.25 Hematological Skin Infiltrates
17.25.1 Pseudolymphomas
17.25.2 Benign and Malignant Mastocytosis
17.26 Solid Tumor Metastases to the Skin
Multiple Choice Questions and Answers
References and Recommended Readings
18: Placenta, Abnormal Conception, and Prematurity
18.1 Development and Useful Pilot Concepts and Tables
18.2 Pathology of the Early Pregnancy
18.2.1 Disorders of the Placenta Formation
18.2.1.1 Partial Mole (Partial Molar Degeneration)
18.2.1.2 Complete Mole (Complete Molar Degeneration)
18.2.1.3 Hydropic Abortus/Hydropic Molar Degeneration (HMD)
18.2.2 Disorders of the Placenta Maturation
18.2.3 Disorders of the Placenta Vascularization
18.2.4 Disorders of the Placenta Implantation Site
18.2.5 Twin and Multiple Pregnancies
18.3 Pathology of the Late Pregnancy
18.3.1 Acute Diseases
18.3.1.1 Abruptio Placentae
18.3.1.2 Bleeding of the Fetus (Fetal Maternal Hemorrhage, FMH)
18.3.1.3 Cord Integrity Damage
18.3.2 Subacute Diseases
18.3.2.1 Amniotic Fluid Infection (AFI)/Acute Chorioamnionitis (ACA)
18.3.2.2 Meconium-Stained Amniotic Fluid-Related Disorders (MAFD)
18.3.2.3 Fetomaternal Hemorrhage (FMH) ± Intervillous Thrombus(i)
18.3.2.4 S/P Prolonged/Repetitive Hypoxia
18.3.3 Chronic Diseases
18.3.3.1 Maternal Vascular Underperfusion (MVUP) (Figs. 18.24, 18.25, 18.26, and 18.27)
18.3.3.2 Fetal Thrombotic Vasculopathy (FTV)
18.3.3.3 Chronic Villitis of Infectious Type (CVI) and Villitis of Unknown Etiology (VUE)
18.3.3.4 Massive Perivillous Fibrin Deposition (MPFD) and “Maternal Floor Infarction”
18.3.3.5 “Chronic” Placental Abruption (CPA)
18.3.3.6 Villous Capillary Proliferation Disorders (VCPD)
18.3.3.7 Distal Villous Immaturity (DVI)
18.3.4 Fetal Growth Restriction
18.4 Non-neoplastic Trophoblastic Abnormalities
18.4.1 Placental Site Nodule
18.4.2 Exaggerated Placental Site
18.5 Gestational Trophoblastic Diseases, Pre- and Malignant
18.5.1 Invasive Mole
18.5.2 Placental Site Trophoblastic Tumor
18.5.3 Epithelioid Trophoblastic Tumor
18.5.4 Choriocarcinoma
18.6 Birth Defects
18.6.1 Birth Defects: Taxonomy Principles
18.6.2 Birth Defects: Categories
18.6.3 Birth Defects: Pathogenesis (Macro- and Micromechanisms)
18.6.4 Birth Defects: Etiology (Mendelian, Chromosomal, Multifactorial)
18.7 Infection in Pregnancy, Prom, and Dysmaturity
18.7.1 Infection in Pregnancy
18.7.2 Premature Rupture of Membranes (PROM)
18.7.3 Fetal Growth Restriction (FGR) and Dysmaturity
18.8 IUFD and Placenta
18.8.1 Fetal Death Syndrome (Intrauterine Fetal Demise, IUFD)
18.8.2 Step-by-Step Approach in the Examination of a Placenta
Multiple Choice Questions and Answers
References and Recommended Readings
Index
