Congenital Atrichia: A Case Report
September 2023
in “
International journal of science and healthcare research
”
Studysummary In this report, a preterm neonate was found to have total irreversible hair loss due to congenital atrichia, confirmed by a mutation in the human hairless gene on chromosome 8p22, illustrating this rare autosomal recessive disorder. Our plain-language summary of this paper — not a Tressless recommendation.
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.
