Congenital Atrichia With Papular Lesions

January 2014 in “ Indian Journal of Paediatric Dermatology ”

Biju Vasudevan, Rajesh Verma, Vijendran Pragasam, Ambresh Badad, Debdeep Mitra, Shekhar Neema

congenital atrichia alopecia keratin-filled cysts autosomal recessive complete hair loss papular lesions

TLDR Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.

The document discussed congenital atrichia with papular lesions (APL), a rare autosomal recessive condition characterized by irreversible hair loss shortly after birth and the development of keratin-filled cysts on the body. A case study of a 4-year-old boy with complete body hair loss and skin-colored papules was presented. The condition was linked to mutations in the hairless gene (HR) on chromosome 8p21.2, affecting hair matrix cells and preventing further hair growth. The study highlighted the complexity of diagnosing APL, noting its differentiation from other forms of alopecia and associated syndromes. Despite normal development and no systemic abnormalities, the condition remained unresponsive to therapy.

View this study on journals.lww.com →

Discuss this study in the Community →

Research cited in this study

3 / 3 results

research Congenital Atrichia Associated with Situs Inversus and Mesocardia

5 citations , January 2012 in “International journal of trichology”

A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.

research Atrichia with Papular Lesions in a Taiwanese Patient Without Hairless (HR) Gene Mutation

3 citations , March 2010 in “Dermatologica Sinica”

A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.

research Atrichia Caused by Mutations in the Vitamin D Receptor Gene Is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene

139 citations , September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology”

Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.