John Libbey Eurotext

European Journal of Dermatology


A novel mutation in TRPS1 in a patient with tricho-rhino-phalangeal syndrome type 1, accompanied by vesicoureteral reflux Volume 27, numéro 6, November-December 2017


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1 Department of Dermatology, Maebashi Red Cross Hospital, Maebashi, Gunma, Japan
2 Department of Dermatology, Gunma University Graduate School of Medicine, Maebashi, Gunma, Japan
3 Department of Dermatology, Yamaguchi University Graduate School of Medicine, Ube, Yamaguchi, Japan
4 Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan

Tricho-rhino-phalangeal syndrome (TRPS) is a rare, autosomal dominant disorder. TRPS is classified into three types: TRPS type 1 (TRPS1) is characterised by axial, appendicular, and craniofacial skeletal deformities, including micrognathia, sparse scalp hair, bulbous nose, long flat philtrum, thin upper vermilion border, and protruding ears; TRPS2 is generally characterised by intellectual disability; and TRPS3 is characterised by severe growth disturbance and remarkable cone-shaped epiphysis. TRPS1 [...]