올브라이트 유전성 골이영양증의 진단에 실마리가 된 피부 골종 1예

Abstract

Albright`s hereditary osteodystrophy (AHO) has a broad spectrum of physical findings, including short stature, flattened nasal bridge, round facies, obesity, skeletal anomalies of the hands with brachydactyly, osteoma cutis, mental retardation, dental defects, cataracts, and calcification in the basal ganglia. It also includes endocrinologic abnormalities such as pseudohypoparathyroidism and pseudopseudohypoparathyroidism. Primary osteoma cutis, which can precede other physical findings of AHO, might be a diagnostic clue for AHO. Therefore, close follow-up and regular laboratory tests should be done to detect the early development of AHO in young children with primary osteoma cutis. Early diagnosis and treatment of AHO can prevent irreversible mental retardation and developmental delay