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Atrichia With Papular Lesions Confirmed via Genetic Testing: A Case Report
Julie Boisen1, Jade Lewis2, Sophia J Hendrick1
1Dermatology, Baylor Scott & White Health, Temple, USA.
Abstract:
Atrichia with papular lesions (APL) is a rare form of alopecia characterized by the diffuse, complete, irreversible loss of hair shortly after birth and the presence of diffuse keratotic papules and milia-like cysts. Multiple hairless gene (HR) mutations on the zinc finger domain of chromosome 8p12 have been associated with this disorder. We present the case of a 5-year-old girl with classic clinical findings of APL, with a diagnosis confirmed via genetic testing.
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