23 citations
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July 2003 in “Journal of Investigative Dermatology” Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
December 2022 in “Curēus” This case report describes a 5-year-old girl with atrichia with papular lesions, whose diagnosis was confirmed through genetic testing identifying mutations in the hairless gene.
4 citations
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January 2011 in “Annals of Dermatology” This article discusses the role of HR gene mutations in differentiating atrichia with papular lesions from alopecia universalis, but presents no new experimental results.
September 2023 in “International journal of science and healthcare research” In this report, a preterm neonate was found to have total irreversible hair loss due to congenital atrichia, confirmed by a mutation in the human hairless gene on chromosome 8p22, illustrating this rare autosomal recessive disorder.
69 citations
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May 2002 in “Journal of Investigative Dermatology” This study suggests that congenital atrichia with papular lesions may be more common than previously thought and proposes diagnostic criteria including the observation of hypopigmented whitish streaks on the scalp.