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 ”

Sai Sreenivasulu Nookala, UVS Akhila Reddy

atrichia congenita papular lesions alopecia universalis hairless gene keratinizing cysts hair follicles autosomal recessive disorder

Studysummary This case report describes an 8-year-old girl with atrichia congenita characterized by complete hair loss and papular lesions, attributed to an insertion mutation in the hairless gene.

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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.

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research A Practical Approach to the Diagnosis and Management of Hair Loss in Children and Adolescents

40 citations , July 2017 in “Frontiers in Medicine”

This review highlights that in children, hair loss can be attributed to diverse conditions like alopecia areata and tinea capitis, and stresses the importance of a holistic approach to diagnosis and management, including psychosocial support due to limited effective treatments.

research Congenital Atrichia With Papular Lesions

8 citations , January 2014 in “Indian Journal of Paediatric Dermatology”

This case report describes a 4-year-old boy with congenital alopecia characterized by complete irreversible hair loss and papular lesions associated with keratin-filled cysts.

research Atrichia With Papular Lesions

8 citations , January 2011 in “International journal of trichology”

This report discusses the accurate diagnosis of atrichia with papular lesions, emphasizing its distinction from alopecia universalis to prevent unnecessary steroid treatment, and presents a case matching APL diagnostic criteria.

research Atrichia with Papular Lesions in a Taiwanese Patient Without Hairless (HR) Gene Mutation

3 citations , March 2010 in “Dermatologica Sinica”

This study reports the first case of atrichia with papular lesions in a Taiwanese family without a detectable mutation in the HR gene.

research Atrichia Caused by Mutations in the Vitamin D Receptor Gene Is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene

139 citations , September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology”

This case report describes a patient with mutations in both alleles of the vitamin D receptor who exhibited hair loss clinically indistinguishable from generalized atrichia with papules, suggesting a potential genetic pathway shared with the hairless gene.