Trichorhinophalangeal Syndrome with Low Expression of TRPS1 on Epidermal and Hair Follicle Epithelial Cells

The document described a case study of a 5-year-old Japanese girl with Trichorhinophalangeal syndrome (TRPS) type 1, presenting with sparse and slow-growing scalp hair, craniofacial and skeletal abnormalities, and a novel mutation in the TRPS1 gene. The study found significantly reduced TRPS1 expression in the patient's epidermal and hair follicle cells and increased phospho-Stat3 levels, which is linked to the loss of TRPS1. This was the first study to provide histological and immunohistochemical evidence of scalp skin in TRPS1, indicating that low TRPS1 expression contributes to hair abnormalities and suggesting that targeting activated STAT3 might promote hair regrowth in TRPS patients.