Paget’s Disease of the Bone
67. Paget’s Disease of the Bone Definition Paget’s disease of the bone is a relatively common disease of middle-aged and elderly people in which there is excessive and abnormal bone…
Pemphigoid/Pemphigus
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…
Osler-Weber-Rendu Syndrome
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…
Osteogenesis Imperfecta
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,…
Nephrotic Syndrome
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…
Neurofibromatosis
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…
Marfan Syndrome
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…
Zollinger-Ellison Syndrome
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…
Malignant Atrophic Papulosis
55. Malignant Atrophic Papulosis Definition Malignant atrophic papulosis (MAP) was originally described as a variant of thromboangiitis obliterans, but was quickly recognized to be a distinct disease entity. MAP is…
Zenker’s Diverticulum
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…
