Atrichia with papular lesions: A case report

Abstract

We present a case of clinically suspected atrichia with papular lesions in an 8-year-old male presenting with alopecia universalis and keratotic papules. We review the literature available on this rare genodermatosis.

Atrichia With Papular Lesions Confirmed via Genetic Testing: A Case Report

“…APL is a rare, autosomal recessive genodermatosis associated with diffuse hair loss that typically occurs within the first year of life [ 3 ]. Though this disease can mimic alopecia universalis congenita (AUC), the formation of keratin-filled cysts in a diffuse distribution in the first year of life is pathognomonic of APL and is usually absent in AUC [ 2 , 3 ]. Eruptive milia can occur spontaneously and in association with other autosomal dominant syndromes or genodermatoses [ 4 ].…”

“…Patients with APL usually meet developmental milestones and have no evidence of delayed bone growth, seizures, hearing loss, or additional defects in ectodermal structures, unlike vitamin D-dependent rickets or ectodermal dysplasia. APL is likely underdiagnosed due to misdiagnosis as AUC and failure to perform confirmatory testing, especially in patients who lack a history of consanguinity [ 2 , 3 ]. When possible, confirmatory genetic testing, along with clinical findings, is the gold standard for diagnosis.…”