A Case of Osteoma Cutis, a Diagnostic Clue for Albright's Hereditary Osteodystrophy.
- Author:
Dong Jin RYU
1
;
Sang Ho OH
;
Eun Chun HAN
;
Byung Gi BAE
;
Ju Hee LEE
Author Information
1. Department of Dermatology and Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul, Korea. juhee@yuhs.ac
- Publication Type:Case Report
- Keywords:
Albright's hereditary osteodystrophy;
Osteoma cutis
- MeSH:
Basal Ganglia;
Bone Diseases, Metabolic;
Brachydactyly;
Cataract;
Child;
Early Diagnosis;
Facies;
Fibrous Dysplasia, Polyostotic;
Hand;
Humans;
Intellectual Disability;
Obesity;
Ossification, Heterotopic;
Osteoma;
Pseudohypoparathyroidism;
Pseudopseudohypoparathyroidism;
Skin Diseases, Genetic
- From:Korean Journal of Dermatology
2009;47(4):435-438
- CountryRepublic of Korea
- Language:Korean
-
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.
