Clinical and Trichoscopy Features in Trichorhinophalangeal Syndrome: A Multicenter Retrospective Study

Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant genetic disorder characterized by trichological, craniofacial, and skeletal abnormalities. To date, limited data are available on hair involvement in TRPS, especially those focusing on trichoscopy.

We aimed to describe the epidemiology and the clinical and trichoscopy features of TRPS.

We performed a retrospective multicenter study using chart review and images from six patients with a confirmed diagnosis of TRPS. Hair density (hair/field; field 13×1.4 mm) was classified as high (>30), medium (21-30), low (11-20), very low (5-10), or hairless (<4). The distance between follicular units, ranging from 1.0 mm to 1.4 mm, was considered normal.

Most patients were females, with a median age of 12 at diagnosis. Hair density ranged from very low to medium. All female patients presented a high occipital hairline. Our patients had exclusively non-terminal hairs and no case with high hair density, following the literature, which describes thin and sparse hairs. Hair density was related to a higher proportion of single hair units, while the distance between follicles was within normal limits.

TRPS is notably uncommon, with hair alterations being important for diagnosis, where trichoscopy serves as a valuable tool. Our study found a normal hair diameter relationship (frontal ≥ occipital) in females, while the male patient exhibited frontal-occipital inversion. Low hair density may result from an increased number of single hair units rather than from follicular distance. The high occipital hairline is proposed as a diagnostic pearl, warranting further studies to validate our findings.