Trichorhinophalangeal Syndrome , Type I

Kim, Hyoung Seob; Sim, Woo Young; Haw, Choong Rim

Abstract

Trichorhinophalangeal syndrome (TRPS) was first described in 1966 by Giedion. It is a rare genetic disease and divided into two groups : TRPS type I and TRPS type II. TRPS type I is an autosomal dominant inherited disorder, defined by three characteristic findings : first, sparsely distributed brittle and slow-growing scalp hair, second, a bulbous pear-shaped nose with an elongated philtrum, third brachydactyla with angular deformities. The characteristic radiological features of the hands include cone shaped epiphysis of the proximal interphalangeal joints. Most TRPS type II is sporadic and shows multiple exosteosis, mental retardation and microcephaly in addition to the three chracteristic findings of TRPS type I . A 20-year-old female visited our department for the evaluation of her sparse, slow-growing scalp hair. She also had a bulbous pearshaped nose, ulnar deviated fingers and shortened both hallux. Some relatives of patients show similar symptoms of scalp hair. A Radiologic aly, histopathologic aly and chromosomal study were done, and we established the diagnosis, TRPS type I.