A Rare Cause of Irrevocable Childhood Alopecia Feigning Alopecia Universalis: Atrichia Congenita With Papular Lesions
September 2022
in “
IP Indian journal of clinical and experimental dermatology
”
![Image of study](/images/research/88caadb1-66f7-4b22-8005-8adf40e022dd/medium/30482.jpg)
TLDR An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.
An 8-year-old girl presented with a condition known as atrichia congenita with papular lesions, characterized by irreversible complete hair loss and keratin-filled papular lesions. This rare autosomal recessive disorder was caused by an insertion mutation in exon 2 of the hairless gene. The patient experienced total hair loss on the scalp, eyebrows, eyelashes, and body, which began at birth and was complete by 9 months of age. The middle and lower portions of her hair follicles were replaced by keratinizing cysts without hair shafts, leading to the misdiagnosis of alopecia universalis due to the condition's rarity.