Connective Tissue, Skin, and Bone Disorders

摘要: Pseudoxanthoma elasticum (Gronbald-Strandberg syndrome) (PXE) affects about 1 in 70,000 to 100,000 individuals. It is characterized by skin abnormalities the neck, axilla, and other flexural areas, breaks Bruch’s membrane with formation of angioid streaks, disruption arterial walls producing gastrointestinal hemorrhages, calcification, occlusive vascular changes. The vasculopathy fragmentation calcification elastic component media, leading fragility atherosclerosis. results neurological abnormalities,122 coronary atherosclerotic heart disease, renal failure hypertension, peripheral disease.36 disease becomes manifest third decade, but hemorrhage has been reported as early 6 or 7 years age. Mitral valve prolapse occurs 70% patients.155 Cutaneous findings are characteristic consist yellowish, xanthomatous lesions that coalesce form peau d’orange plaques areas folds such genital, popliteal, periumbilical regions. Mucosal can also be present on lower lip, rectum, vagina. Skin biopsy reveals clumping fibers dermis scattered calcifications.