Multiple pilomatricomas in a child with xeroderma pigmentosum: Coincidence or association?

Rodolfo David Palacios-Diaz,Miguel Ángel Navarro-Mira,Rosa Ballester-Sánchez, Anaid Calle-Andrino,Blanca de Unamuno-Bustos,Rafael Botella-Estrada

PEDIATRIC DERMATOLOGY（2022）

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摘要

The association of multiple pilomatricomas with xeroderma pigmentosum has not been described. We report a case of a child with multiple pilomatricomas and photosensitivity who was found to have a pathogenic variant in exon 4 of XPA and a likely pathogenic variant in COL6A1.

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关键词

collagen VI, pilomatricoma, pilomatrixoma, xeroderma pigmentosum, XPA

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