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

July 2025 in “ Dermatology Practical & Conceptual ”

Daniel Fernandes Melo, Rita Fernanda Cortez de Almeida, Carla Jorge Machado, Marcela Benez, Pedro da Rocha Andrade Neto Pedro da Rocha Andrade Neto, Andre Donda Andre Donda, Isabela Peron Melhado, Rogério Nabor Kondo, Sidney Frattini, Giselle Pinto Giselle Pinto, Aline Donati

Trichorhinophalangeal Syndrome trichoscopy hair alterations hair density single hair units follicular distance high occipital hairline

TLDR Hair changes and a high occipital hairline may help diagnose Trichorhinophalangeal Syndrome.

This multicenter retrospective study on Trichorhinophalangeal Syndrome (TRPS) highlights the significance of hair alterations in diagnosis, using trichoscopy as a key tool. The study observed a normal hair diameter relationship (frontal ≥ occipital) in females, while a male patient showed frontal-occipital inversion. It suggests that low hair density in TRPS may be due to an increased number of single hair units rather than follicular distance. Additionally, a high occipital hairline is proposed as a potential diagnostic feature, though further studies are needed to confirm these findings.