Das Trichorhinophalangealsyndrom

Trichorhinophalangeal syndrome (TRPS) was first described in 1956 and involves a combination of hair, facial, and bone abnormalities, with three subtypes identified. A study of a 37-year-old patient with TRPS type I revealed fine, brittle hair with widely spaced cuticular scales, and a significant increase in the viscous parameter of the hair, possibly due to changes in the keratin matrix. Patients often present with hair issues, and there is no specific treatment beyond gentle hair care. Skeletal abnormalities may lead to premature arthrosis, necessitating occupational counseling. Rarely, congenital heart, kidney, and endocrine issues may occur and should be investigated if symptoms are present.