TLDR Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.
Congenital atrichia with papular lesions (APL) was described as a rare, autosomal recessive condition characterized by irreversible total body hair loss shortly after birth, accompanied by the development of keratin-filled cysts or horny papules. This condition was linked to a mutation in the human hairless gene on chromosome region 8p12. The case study presented a 1-year-old boy, born from a third-degree consanguineous marriage, who exhibited complete absence of scalp and body hair since birth, along with multiple skin-colored papules on the scalp. Despite previous treatments for alopecia universalis and vitamin D-dependent rickets type IIA, his alopecia remained unresponsive. A skin biopsy revealed normal epidermis with multiple keratin cysts and hypoplastic hair follicles. A 15-year-old relative reportedly had similar lesions, suggesting a genetic component.
2 citations
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January 2014 in “Indian dermatology online journal” A person was born with both a rare hairless condition and a type of birthmark, which is an uncommon combination.
5 citations
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January 2012 in “International journal of trichology” A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.
139 citations
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September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
4 citations
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January 2020 in “Dermatology Online Journal” Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.
5 citations
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January 2018 in “Acta Dermatovenerologica Alpina Pannonica et Adriatica” Congenital atrichia with papular lesions causes permanent hair loss in children.
18 citations
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January 2013 in “Dermatology Online Journal” Trichofolliculoma is a rare skin bump on the face or scalp.
8 citations
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January 2011 in “International journal of trichology” Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
Trichotillometry can measure hair plucking force, aiding alopecia treatment evaluation.
