Clinical characteristics of tricho-rhino-phalangeal syndrome type I in Taiwanese

Tricho-rhino-phalangeal syndrome type I (TRPS-I) is a malformation syndrome characterized by distinctive craniofacial and skeletal abnormalities. Only one case of TRPS-I has been previously reported in Taiwan. This retrospective study analyzed the clinical, roentgenographic, and histopathologic findings in seven patients with a diagnosis of TRPS-I who were treated at a hospital in Tainan during a 6-year period from 1994 to 1999. Physical examination revealed fine, sparse, and short scalp hair, a pear-shaped nose, long philtrum, thinning of the lateral portion of the eyebrows, and brachydactyly of the thumbs and big toes. The stature and intelligence of these patients were normal. Histopathologic examination of the scalp in two patients showed hypotrichosis without inflammation or scarring. Roentgenographic evaluation of both hands and feet showed cone-shaped proximal epiphyses of the middle phalanges in all patients. The findings of this report suggest that TRPS-I is not rare among Taiwanese, although the island-wide incidence is not known. The diagnosis of this syndrome in our department was greatly facilitated by our prior experience with treatment of the first patient in this series because TRPS-I is readily recognizable by its characteristic clinical and roentgenographic features. The identification of these features is important to the facilitation of genetic and cosmetic counseling. In addition to the typical craniofacial manifestations, all patients in this study showed brachydactyly of the big toes. This additional feature appears to offer an easy way to recognize the syndrome clinically.