TLDR A new genetic mutation in the hairless gene causes a rare hair loss disorder.
Atrichia with papular lesions (APL) was identified as a rare autosomal recessive disorder characterized by complete and irreversible hair loss shortly after birth, along with the development of papular lesions of keratin-filled follicular cysts. This study reported a novel missense mutation, E583V, in the hairless gene in an Italian family affected by APL. The mutation was located between the LXXLL motif in exon 5 and the zinc-finger motif in exon 6, regions that were highly conserved across several species. This finding contributed to the understanding of the critical role of these domains in the function of the hairless protein and highlighted the occurrence of APL in small, non-consanguineous families globally.
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.
26 citations
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October 2002 in “Journal of Investigative Dermatology” A specific gene mutation causes congenital hair loss.
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.
47 citations
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April 2000 in “Experimental Dermatology” A new gene mutation causes a rare type of 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.
37 citations
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August 1999 in “Journal of Investigative Dermatology” A specific gene mutation causes complete hair loss without other health issues.
412 citations
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January 1998 in “Science” A mutation in the human hairless gene causes alopecia universalis.
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.
November 2019 in “Harper's Textbook of Pediatric Dermatology” Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.
11 citations
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February 2011 in “The Journal of Dermatology” Mutations in the hairless gene cause a rare form of permanent hair loss.
19 citations
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May 2006 in “Clinical and Experimental Dermatology” Researchers found a new mutation causing total hair loss from birth.
7 citations
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December 2015 in “International Journal of Dermatology” New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
