TLDR This rare genetic disorder causes permanent hair loss and skin bumps from birth.
Congenital atrichia with papules is a rare genetic disorder where hair follicles are replaced by keratinous cysts, leading to hair loss soon after birth and the development of papular lesions. It is important to distinguish this condition from other causes of congenital atrichia, like vitamin D-dependent rickets, alopecia universalis, and ectodermal dysplasia, to prevent unnecessary treatments and to inform parents about its benign yet irreversible nature.
The document concludes that the girl's hairlessness is likely inherited from her parents.
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.
69 citations
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May 2002 in “Journal of Investigative Dermatology” Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
8 citations
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January 2011 in “International journal of trichology” Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
4 citations
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January 2011 in “Annals of Dermatology” Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
181 citations
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January 2009 in “Nature Genetics” Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
66 citations
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December 1999 in “Journal of Investigative Dermatology” New mutations in the hairless gene may cause hair loss and affect bone development.
7 citations
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December 2008 in “Expert Review of Dermatology” The document concludes that various childhood hair and nail disorders exist, some may improve on their own, and advances in genetics and immunology could enhance treatment and counseling.
