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Trichorhinophalangeal syndrome types I and III (TRPS1, OMIM 190350; TRPS3, OMIM 190351) are rare hereditary diseases with autosomal dominant inheritance (1, 2). The first case was reported in 1966 (3). In 2000 the TRPS1 gene was identified as one of its causative genes and mapped to chromosomal region 8q24.1 (1). These syndromes have characteristic sparse and slow-growing hair, craniofacial abnormalities, such as bulbous pear-shaped nose, and skeletal abnormalities (3–5). We report here the effects of TRPS1 protein deficiency in a case of TRPS1.

TRPS1 Haploinsufficiency Results in Increased STAT3 and SOX9 mRNA Expression in Hair Follicles in Trichorhinophalangeal Syndrome