Christmas article: Case of uncombable hair syndrome discovered after publication of article in Ugeskrift for Læger.

Drivenes, Jakob Lillemoen; Vasilescu, Ileana; Betz, Regina C; Bygum, Anette

Drivenes, Jakob Lillemoen; Vasilescu, Ileana; Betz, Regina C; Bygum, Anette.

Afiliación

Drivenes JL; Lægehuset Sakskøbing.
Vasilescu I; Sykehuset i Vestfold, Tønsberg, Norge.
Betz RC; Klinisk Patologisk Afdeling, Odense Universitetshospital.
Bygum A; Institut für Humangenetik, Universitätsklinikum Bonn, Tyskland.

Ugeskr Laeger ; 185(50)2023 12 11.

Article en Da | MEDLINE | ID: mdl-38084614

RESUMEN

Uncombable hair syndrome is a rare hair shaft anomaly presenting in childhood with blond, frizzy, and unruly hair. This case report presents a 9-year-old boy with remarkable hair where the mother, after reading a medical paper on hair shaft anomalies, suspected uncombable hair syndrome. She reached out to the author group, and the employment of molecular genetics later confirmed the diagnosis of uncombable hair syndrome. This case report serves as an example of how digital access enables the attention of patients and relatives to be directed towards rare conditions.

Asunto(s)

Enfermedades del Cabello; Niño; Humanos; Masculino; Cabello/anomalías; Enfermedades del Cabello/diagnóstico; Madres; Cuidados Paliativos

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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades del Cabello Límite: Child / Humans / Male Idioma: Da Revista: Ugeskr Laeger Año: 2023 Tipo del documento: Article Pais de publicación: Dinamarca

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