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Glossary Atrichia with Papular Lesions

rare genetic condition causing hair loss and skin bumps

Atrichia with Papular Lesions (APL) is a rare genetic condition characterized by the complete absence of hair (atrichia) shortly after birth, followed by the development of small, firm bumps on the skin (papular lesions). This condition is caused by mutations in the HR gene, which is crucial for hair follicle development and cycling.

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research Atrichia With Papular Lesions

32 citations , May 1986 in “Archives of Dermatology”

This case study suggests that atrichia with papular lesions associated with common variable immunodeficiency may follow an autosomal-dominant inheritance pattern, differing from previous reports of autosomal recessive inheritance.

research Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions

23 citations , July 2003 in “Journal of Investigative Dermatology”

Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.

research Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene

20 citations , August 2003 in “Clinical and Experimental Dermatology”

In this study, a novel E583V missense mutation in the hairless gene was identified in an Italian family with atrichia with papular lesions, reinforcing the significance of zinc-finger and LXXLL domains in this condition.

research Atrichia with papular lesions resulting from mutations in the rhesus macaque (Macaca mulatta) hairless gene

20 citations , January 2002 in “Laboratory Animals”

This study identified a compound heterozygous mutation in a hairless rhesus macaque, which was associated with skin abnormalities similar to those in hairless mice and humans with APL.

research Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene

20 citations , October 2005 in “Archives of Dermatological Research”

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