Trichoscopic findings in neonatal alopecia in oro-facial-digital syndrome type 1.

Autor: Martinez-Molina M; Dermatology Department, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain., Carmona-Rocha E; Dermatology Department, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain., Gil-Lianes J; Dermatology Department, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain., Yubero D; Genetics Department, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain., Casas-Alba D; Genetics Department, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain., Baselga E; Dermatology Department, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain., Ivars M; Dermatology Department, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain.
Jazyk: angličtina
Zdroj: Pediatric dermatology [Pediatr Dermatol] 2024 Nov-Dec; Vol. 41 (6), pp. 1199-1202. Date of Electronic Publication: 2024 Jul 05.
DOI: 10.1111/pde.15686
Abstrakt: Oral-facial-digital syndrome type 1 (OFD1) is an X-linked dominant development disorder due to mutations in the OFD1 gene. It is characterized by facial, oral, and digital malformations, although expression is variable. Skin manifestations are frequent (20%-30% of patients) and characterized by evanescent milia and patchy alopecia. Trichoscopic findings (broken hairs, black dots, pili torti) can resemble tinea capitis, although such findings have not been well characterized. High clinical suspicion of ectodermal dysplasia-like syndromes due to trichoscopy findings, absence of response to long-term antifungal therapy, and the presence of midline anomalies can raise suspicion for OFD1, which can be confirmed by genetic testing and enable diagnosis.
(© 2024 Wiley Periodicals LLC.)
Databáze: MEDLINE
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