Congenital Atrichia: A Case Report

Abstract

Introduction: Congenital Atrichia is a rare genetic condition in which all body hair may be absent. Congenital Atrichia is a rare genodermatoses is characterized by a mutation of the human hairless (HR) gene on chromosome 8p22. There is loss of scalp hair between, eyebrow, eyelash, and body hair may also be sparse or absent; patients may have a few pubic and axillary hairs. The condition may present in isolation or along with other defects. There are many forms of inherited alopecia (i.e., hair loss), which vary in age of onset, severity, and associated ectodermal abnormalities. Congenital alopecia universalis or congenital atrichia without associated ectodermal defects is a rare autosomal recessive disorder and is the only form of inherited alopecia for which the molecular basis is known. (2) Case Report: Here is a case report on a preterm neonate delivered via normal vaginal delivery in our hospital setup. Patient was on mechanical ventilator after birth. Patient gradually improved at it was noticed that there was total absence of hair on the body. Dermatology opinion was taken and after few investigations and genetic testing it was confirmed case of Congenital Atrichia due to mutation in chromosome no 8p22. Discussion: Congenital atrichia is a rare disease, causing irreversible alopecia which is inherited autosomal recessively. There is complete irreversible hair loss seen soon after birth. Situs inversus and mesocardia has also been reported to be associated with this disease. Conclusion: Congenital atrichias represent a large and heterogeneous group of inherited hair disorders. In this report, we describe a patient affected with alopecia universalis congenita Keywords: Congenital, atrichia, hairless gene, vitamin d deficiency