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GlossaryAtrichia 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 Resulting From a Novel Insertion Mutation in the Human Hairless Gene

19 citations, May 2006 in “Clinical and Experimental Dermatology”

Researchers found a new mutation causing total hair loss from birth.

research Atrichia With Papular Lesions

8 citations, January 2011 in “International journal of trichology”

Accurate diagnosis of APL is crucial to avoid unnecessary treatments.

research Identification of Novel Mutation in the HR Gene Responsible for Atrichia with Papular Lesions in a Pakistani Family

5 citations, September 2013 in “The Journal of Dermatology”

Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.

research Detection of a Novel Missense Mutation in Atrichia with Papular Lesions

4 citations, January 2011 in “Annals of Dermatology”

Researchers found a new mutation in the HR gene linked to a rare hair loss condition.

research Identification of a Recurrent Nonsense Mutation in HR Gene Responsible for Atrichia with Papular Lesions in Two Kashmiri Families

3 citations, February 2020 in “The journal of gene medicine”

A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.

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