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In this study of a TRPS type I patient, many genes related to keratin and hair development were down-regulated in balding scalp areas, providing new insights into TRPS and hair morphogenesis.

This case report highlights the discovery of a novel TRPS1 gene mutation in a 17-year-old with TRPS type I, underscoring the diagnostic importance of hair symptoms in congenital hair diseases.

This case study found that a 9-year-old girl with trichorhinophalangeal syndrome type 1 experienced significant improvements in hair density and length after 4 months of topical minoxidil treatment, suggesting its therapeutic potential for this condition.

This case study reported that 5% minoxidil solution effectively promoted hair growth and resulted in generalized hypertrichosis in a 7-year-old with Trichorhinophalangeal syndrome type I.

This report on a 37-year-old patient found that trichorhinophalangeal syndrome type I is associated with hair abnormalities, including fine and brittle hair with altered biomechanical properties, but no treatment exists for the hair defects.