A novel TRPS 1 mutation in a family with tricho‐rhino‐phalangeal syndrome type 1

Tricho‐rhino‐phalangeal syndrome ( TRPS ) is an autosomal‐dominant disease characterized by sparse and slow‐growing scalp hair and craniofacial and skeletal abnormalities. We report here the case of two girls and their father who had TRPS type 1 and received a diagnosis of a new mutation of TRPS 1 based on their clinical symptoms. Moreover, histological studies on skin samples obtained from one of the patients showed enhanced signal transducers and activator of transcription ( STAT ) 3 expression in the outer root sheath. However, TRPS 1 protein expression was not reduced in the patient's follicles. These findings indicate that truncated TRPS 1 protein from the mutant allele may be stably expressed in the patient's follicles and that enhanced STAT 3 expression may be involved in the development of sparse and thin scalp hair in TRPS .