A Newborn With Hair Loss

    February 2013 in “ Clinical pediatrics ”
    Katherine Marie Fyall, Catherine A. Fine, Dean S. Morrell
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    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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