Congenital Atrichia: A Case Report

September 2023 in “ International journal of science and healthcare research ”

Nilesh Dhanaji Kanase, Abhijit Shinde, Suresh Waydande

congenital atrichia HR gene chromosome 8p22 hair loss genetic testing autosomal recessive situs inversus mesocardia vitamin D-dependent rickets ectodermal dysplasia genetic hair loss vitamin D rickets

TLDR Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.

This case report details a preterm neonate born at 28 weeks with congenital atrichia, a rare genetic disorder caused by a mutation in the HR gene on chromosome 8p22, resulting in complete hair loss. Genetic testing confirmed the diagnosis. Congenital atrichia is an autosomal recessive condition that leads to irreversible hair loss shortly after birth and may be associated with other conditions such as situs inversus and mesocardia. The report underscores the importance of genetic testing for accurate diagnosis and the need for differential diagnosis to exclude other conditions like vitamin D-dependent rickets and ectodermal dysplasia.

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