Atrichia With Papular Lesions
January 2011
in “
International journal of trichology
”
Studysummary This report discusses the accurate diagnosis of atrichia with papular lesions, emphasizing its distinction from alopecia universalis to prevent unnecessary steroid treatment, and presents a case matching APL diagnostic criteria.
Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer
Atrichia with papular lesions (APL) is a rare autosomal recessive disorder characterized by irreversible alopecia and keratin cysts, caused by mutations in the Zinc finger domain of the human hairless gene on chromosome 8p12. An 11-year-old male presented with extensive alopecia starting at six months of age and keratotic papules on the face and trunk. Biopsies confirmed the presence of mid-dermal keratin cysts and few vellus follicles without terminal hairs. Accurate diagnosis of APL is crucial to avoid misdiagnosis as alopecia universalis and unnecessary steroid treatments. Vitamin D-dependent rickets, which has a similar clinical presentation, was ruled out.
