Atrichia with papular lesions

Definition:

Atrichia with papular lesions is a rare disease characterized by early onset irreversible alopecia and papular lesions of keratin-filled cysts over the extensor areas of the body. It is caused by mutations in hairless gene, whose defects brings about complete hair loss in mice. It is inherited in autosomal recessive manner.

References:

[1]. Deborah Lee, et al. Detection of a novel missense mutations in atrichia with papular lesions. Ann Dermatol. 2011 May;23(2):132-7. [Content Brief]

[2]. Jining Wang, et al. Interactions of the vitamin D receptor with the corepressor hairless: analysis of hairless mutants in atrichia with papular lesions. J Biol Chem. 2007 Aug 31;282(35):25231-9. [Content Brief]

[3]. Leona Yip, et al. Atrichia with papular lesions: a report of three novel human hairless gene mutations and a revision of diagnostic criteria. Acta Derm Venereol. 2008;88(4):346-9. [Content Brief]

[4]. Zahid Azeem, et al. Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families. J Dermatol. 2011 Aug;38(8):755-60. [Content Brief]

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