A Newborn With Hair Loss

February 2013 in “ Clinical pediatrics ”

Katherine Marie Fyall, Catherine A. Fine, Dean S. Morrell

hair loss atrichia with papular lesions alopecia areata HR gene keratin-filled cysts genetic testing autosomal recessive condition APL

TLDR The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.

An 8-month-old boy presented with hair loss and was diagnosed with atrichia with papular lesions (APL), a rare autosomal recessive condition characterized by irreversible hair loss and keratin-filled cysts. Despite initial treatment for presumed alopecia areata, genetic testing confirmed a homozygous mutation in the HR gene. APL should be considered in differential diagnoses of infant hair loss to avoid unnecessary treatments and procedures. Genetic counseling is recommended for understanding inheritance and disease etiology.

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Research cited in this study

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research Interactions of the Vitamin D Receptor with the Corepressor Hairless

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research Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions

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research Atrichia Caused by Mutations in the Vitamin D Receptor Gene Is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene

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