Association of Trichorhinophalangeal Syndrome and Loose Anagen Syndrome: A Case Report

    January 2020 in “ Skin appendage disorders
    Sandra Cecilia García-García, Maira Elizabeth Herz‐Ruelas, Minerva Gómez‐Flores, Norma Elizabeth Vázquez-Herrera, Cosimo Misciali, Antonella Tosti, Sonia Chávez‐Álvarez, Jorge Ocampo‐Candiani, Alejandra Villarreal‐Martínez
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    TLDR A family was found with both Trichorhinophalangeal syndrome and Loose Anagen Syndrome, suggesting a genetic connection.
    The document describes the first known case of a family with both Trichorhinophalangeal syndrome (TRPS) and Loose Anagen Syndrome (LAS). TRPS is a genetic disorder affecting hair, facial features, and bones, while LAS causes hair to be easily pulled out in children. The study focused on a 6-year-old girl displaying symptoms of both conditions, such as thin hair, distinctive facial features, and short fingers. Trichoscopy, a method of examining hair and scalp, showed unique black granular structures indicative of LAS. The girl's father and other relatives also showed signs of both TRPS and LAS, suggesting a genetic link. The study highlights the importance of these black rectangular structures in diagnosing LAS and calls for further research to confirm these findings.
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