December 2024 in “Indian Journal of Dermatology” This case report describes a 3-year-old boy with atrichia with papular lesions, emphasizing that dermoscopy, showing the 'cluster of stars' appearance, facilitated diagnosis without needing a skin biopsy.
4 citations
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January 2020 in “Dermatology Online Journal” In this report, a 1-year-old boy with congenital atrichia with papular lesions was found to have a complete absence of scalp and body hair and keratin-filled cysts due to a mutation in the hairless gene.
1 citations
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January 2019 in “Paediatrics and Child Health” This article reviews pediatric hair growth issues, common causes of hair loss in children, and approaches to diagnosis, but presents no new clinical findings.
3 citations
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January 2013 in “Dermatology” This study identified novel compound heterozygous mutations in the hairless gene among a non-consanguineous Chinese family with congenital atrichia, illustrating phenotypic variations due to founder or modifier genes.
5 citations
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January 2012 in “International journal of trichology” This case report describes the first known instance of congenital atrichia combined with situs inversus and mesocardia in a 2-year-old male.
11 citations
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February 2011 in “The Journal of Dermatology” This study observed four consanguineous families with congenital atrichia with papular lesions and identified three novel mutations in the hairless gene, which may contribute to the disorder.
8 citations
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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.
199 citations
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January 2004 in “The International Journal of Developmental Biology” This review discusses advances in understanding hair and hair follicle structure, gene expression, and molecular signals in hair formation, without reporting new clinical findings.
69 citations
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May 2002 in “Journal of Investigative Dermatology” This study suggests that congenital atrichia with papular lesions may be more common than previously thought and proposes diagnostic criteria including the observation of hypopigmented whitish streaks on the scalp.
178 citations
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October 2001 in “Genes & Development” This study found that the mammalian hairless gene encodes a corepressor protein that interacts with thyroid hormone receptors, providing insights into hair loss syndromes in humans and mice.
412 citations
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January 1998 in “Science” This study identified a missense mutation in the human hairless gene associated with a rare form of recessively inherited alopecia universalis, pinpointed on chromosome 8p12.