Korean J Dermatol.
2004 May;42(5):620-623.
A Case of Trichorhinophalangeal Syndrome Type III
- Affiliations
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- 1Department of Dermatology, College of Medicine, Dankook University, Cheonan, Korea.
- 2Department of Dermatology, Ajou University School of Medicine, Suwon, Korea. maychan@ajou.ac.kr
Abstract
- Trichorhinophalangeal syndrome (TRPS) is a rare genetic disorder characterized by a number of clinical features including slowly growing sparse scalp hair, a pear-shaped nose, and cone-shaped epiphyses of the phalanges. The syndrome has three subgroups: type I, II, and III. TRPS III is the rarest and most recently recognized form and inherited in an autosomal dominant manner. We describe a 19-year-old male with TRPS III, who presented with characteristic clinical and radiological features. To our knowledge, this is the first report of TRPS III in Korea.
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