68. Pemphigoid/Pemphigus Definition Pemphoigoid and pemphigus are a group of chronic, autoimmune blistering diseases that are classified depending on the tissue predominately involved. Cicatricial pemphigoid (CP) predominately affects the mucous…
69. Polyarteritis Nodosa Definition Polyarteritis nodosa (PAN) is a rare form of systemic necrotizing vasculitis that primarily affects small and medium-sized arteries without glomerulonephritis or vasculitis in the arterioles, capillaries,…
64. Osler-Weber-Rendu Syndrome Definition Osler-Weber-Rendu syndrome (OWRS) is an autosomal dominant, inherited disorder characterized by telangiectases, recurrent epistaxis, and first-degree relative(s) positive for the disorder. Telangiectases are lesions produced by…
65. Osteogenesis Imperfecta Definition Osteogenesis imperfecta (OI), one of the most common skeletal dysplasias, is inherited via autosomal dominant mutation(s). It is produced by defective biosynthesis of type I collagen,…
61. Nephrotic Syndrome Definition Nephrotic syndrome is a clinical condition or group of disorders that involves defective kidney glomeruli with massive proteinuria, lipiduria with edema, hypoalbuminemia, and hyperlipidemia. It is…
62. Neurofibromatosis Definition Neurofibromatosis is a familial, multisystem, genetic disorder characterized by developmental changes in the nervous system, muscles, bones, and skin. It is marked by the formation of neurofibromas…
57. Marfan Syndrome Definition Marfan syndrome is an autosomal dominant genetic defect of the connective tissue protein, fibrillin. It results in myriad clinical problems, predominately in the cardiac, musculoskeletal, and…
91. Zollinger-Ellison Syndrome Definition Zollinger-Ellison syndrome (ZES) is a typical, intractable, possibly fulminating, peptic ulcer associated with extreme gastric hyperacidity. Incidence In the United States ZES is estimated to occur…
56. Mallory-Weiss Tear Definition Mallory-Weiss tear is upper gastrointestinal bleeding produced by longitudinal mucosal lacerations (tears) at the gastroesophageal junction (cardiac sphincter). Initiation of the tear (and bleeding) can occur…
90. Zenker’s Diverticulum Definition Zenker’s diverticulum is a rare pulsion disorder consisting of an esophageal mucosal herniation posteriorly between the cricopharyngeal muscle and the inferior pharyngeal constrictor muscle (at the…
