Trichorhinohalangeal syndrome, a rare genetic disease, is characterized by the triad of slow growing, brittle hair with early loss, a per-shaped nose with bulbous tip and long philtrum, and coneshaped phalangeal epiphyses with resultant
shortening
and
deformity of hands and feet.
A 24-year-old female visited our department for the evaluation of alopecia. She had had sparse, thin, and brittle hair since birth. She also complained of short fingers a pear-shaped nose with bulbous tip. The X-ray findings of her hands and feet
showed
cone-shaped epiphyses with shortening of the phalangeal bones. There was no family history of hair, nasal, or palmoplantar phalangeal abnormality. Chromosomal study did not reveal any abnormal finding. Shortened phalangeal bones of her index and
middle
fingers were slightly improved by lengthening procedure with Ilizarov apparatus. (Kor J Dermatol 1994 ; 32(5) : 920~925)
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