Back issues No.2 - 1995 / Case Report  

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Trichorhinophalangeal Syndrome Type I
Shin-Tsung Hsu, J. Yu-Yun Lee, Sheau-Chiou Chao
Dermatol Sinica 13: 111-118, 1995

Trichorhinophalangeal syndrome type I (TRPsI) is a rare hereditary disease and has never been reported in Taiwan. A 14 year-old girl who had 2 previous suicide attempts was referred to us after she recovered from the third attempt. She committed suicide repeatedly because her scalp hair was sparse and slow-growing since birth. She was otherwise in good health and had normal intelligence. She seemed to be the only member affected in the family. Physical examination revealed fine, sparse and short scalp hair, a pear-shaped nose, long philtrum, thinning of lateral eyebrows, brachydactyly of the thumbs and big toes, and clinodactyly of all toes. Histopathologic examination of the scalp biopsy specimen revealed hypotrichosis without inflammation or scarring. X-ray of both hands showed cone-shaped proximal epiphyses of all middle phalanges. Based on the clinical, radiologic and histopathologic findings, TRPsI was diagnosed.

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