Clinical Overview Osteogenesis Imperfecta (OI) is a heterogeneous group of connective tissue disorders characterized by bone fragility and varying degrees of skeletal, ocular, and auditory manifestations. While classically defined by…
Introduction Huntington’s Disease (HD) is a devastating, autosomal dominant neurodegenerative disorder caused by a pathogenic CAG trinucleotide repeat expansion in the HTT gene on chromosome 4p16.3. This mutation results in…
IntroductionOsteoporosis is a systemic skeletal disorder characterized by low bone mass and microarchitectural deterioration of bone tissue, leading to enhanced bone fragility and susceptibility to fracture (Cosman et al., Endocrine…
Prepared for the Practicing Rheumatologist / Pediatrician Definition & Epidemiology Juvenile Idiopathic Arthritis (JIA) is a heterogeneous group of chronic arthritides of unknown etiology onset before age 16, persisting ≥6…
Treacher Collins syndrome (TCS), also known as Mandibulofacial Dysostosis (OMIM #154500) or historically as Franceschetti-Zwahlen-Klein syndrome, is a rare autosomal dominant craniofacial disorder characterized by bilateral symmetric anomalies of the…
Overview & Definition Peritoneal mesothelioma (PM) is a rare, aggressive malignancy arising from the mesothelial cells lining the peritoneum—the serous membrane encapsulating abdominal organs. accounting for 10–30% of all malignant…
1. Background & Epidemiology Crystalline silica (SiO₂), predominantly in the forms of quartz, tridymite, and * cristobalite*, is a ubiquitous mineral in the Earth’s crust and a key component of…
1. Definition & Pathogenesis Barrett’s esophagus (BE) is a premalignant condition characterized by the metaplastic replacement of the normal stratified squamous epithelium of the distal esophagus with specialized intestinal metaplasia…
Epidemiology & Pathogenesis Medullary thyroid carcinoma (MTC) accounts for 3–5% of all thyroid malignancies in the United States, with an annual incidence of ~0.5 cases per 100,000 persons. It arises…
Epidemiology and Pathobiology Urothelial carcinoma (UC), formerly termed transitional cell carcinoma (TCC), accounts for >90% of primary bladder malignancies and remains the fifth most common cancer in the United States…
I. Definition and Epidemiology Crohn’s disease (CD) is a chronic, relapsing-remitting inflammatory bowel disease (IBD) characterized by transmural granulomatous inflammation that can affect any segment of the gastrointestinal (GI) tract—from…
1. Definition & Pathophysiological Basis Ulcerative colitis (UC) is a chronic, relapsing-remitting immune-mediated inflammatory disease confined to the mucosal and submucosal layers of the colon and rectum. It is the…
Epidemiology & Classification Pediatric GHD: Incidence ~1:4,000–1:10,000 live births. Classified as: Congenital: Present at birth; often idiopathic (75%) or associated with structural CNS anomalies (e.g., septo-optic dysplasia), genetic mutations (e.g., GH1, GHRHR, POU1F1, HESX1),…
Overview & Epidemiology Whipple disease (WD) is a rare, systemic granulomatous infection caused by Tropheryma whipplei, first described by George Whipple in 1907. With fewer than 1,000 cases reported globally,…
Prepared for the practicing hematologist/oncologist — incorporating 2023–2024 guidelines (NCCN, ELN, ESMO) and key recent trials (Eneomab, IRIS-15, OPTIC, ASCEND, FREE-SCIPHY) I. Disease Overview & Molecular Pathogenesis Chronic myeloid leukemia…
