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.
40 citations,
July 2017 in “Frontiers in Medicine” Early and personalized treatment for hair loss in young people is crucial to prevent permanent damage and should include psychological support.
8 citations,
January 2011 in “International journal of trichology” Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
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.
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.
8 citations,
January 2011 in “International journal of trichology” Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
26 citations,
July 2019 in “Dermatology and Therapy” The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
1 citations,
February 2013 in “Clinical pediatrics” The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
12 citations,
February 2008 in “Journal of The American Academy of Dermatology” Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
December 2022 in “Curēus” Genetic testing confirmed a young girl has Atrichia with Papular Lesions due to mutations in the hairless gene.
