A Case of Trichorhinophalangeal Syndrome Type III.
- Author:
Sang Won LEE
1
;
You Chan KIM
;
Ki Woong RO
;
Yong Woo CINN
Author Information
1. Department of Dermatology, College of Medicine, Dankook University, Cheonan, Korea.
- Publication Type:Case Report
- Keywords:
Trichorhinophalangeal syndrome type III
- MeSH:
Epiphyses;
Hair;
Humans;
Korea;
Male;
Nose;
Scalp;
Young Adult
- From:Korean Journal of Dermatology
2004;42(5):620-623
- CountryRepublic of Korea
- Language:Korean
-
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.
