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

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

doi:10.5826/dpc.1503a5285

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

Authors

Daniel Fernandes Melo Department of Dermatology, Rio de Janeiro State University, Rio de Janeiro, Brazil
Rita Fernanda Cortez de Almeida Department of Dermatology, Rio de Janeiro State University, Rio de Janeiro, Brazil
Carla Jorge Machado Preventive and Social Medicine Department, Federal University of Minas Gerais, Belo Horizonte, Brazil
Marcela Benez Department of Dermatology, Rio de Janeiro State University, Rio de Janeiro, Brazil
Pedro da Rocha Andrade Neto Department of Dermatology, Rio de Janeiro State University, Rio de Janeiro, Brazil
Andre Donda Department of Dermatology, Rio de Janeiro State University, Rio de Janeiro, Brazil
Isabela Peron Melhado Department of Dermatology, Londrina State University, Londrina, Brazil
Rogerio Nabor Kondo Department of Dermatology, Londrina State University, Londrina, Brazil
Sidney Frattini General Surgery, Grand River Hospital and Saint Mary’s General Hospital, Both Kitchener-Waterloo, Ontario, Canada
Giselle Pinto Dermatology, Private Practice, Porto Alegre, Brazil
Aline Donati Department of Dermatology, Municipal Public Servant Hospital (HSPM), São Paulo, Brazil

Keywords:

Trichorhinophalangeal syndrome, trichoscopy, Hair Disorders, Clinical Features

Abstract

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

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

Methods: We performed a retrospective multicentric study using chart review and images from 6 patients with a confirmed diagnosis of TRPS. Hair density (hair/field; field 13´1.4 mm) was classified into high (>30), medium (21-30), low (11-20), very low (5-10) hair density, and hairless (<4) categories.

Results: 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 cases with high hair density, following the literature that 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.

Conclusion: This case series focused on the trichoscopy features of this condition, detailing aspects of the distance between shafts, hair density, and hair thickness. The results presented challenged previously published features of the syndrome.

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