14 citations
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June 1989 in “Journal of dermatology” This report describes the first documented occurrence of Vohwinkel's disease combined with congenital alopecia universalis in siblings from the same family, both unresponsive to prior treatments.
In this study, the authors emphasize the importance of accurately diagnosing congenital atrichia with papules—a condition marked by hair loss and papular skin lesions—differentiating it from other similar disorders to prevent unnecessary treatments and inform families about its benign but irreversible nature.
September 2022 in “IP Indian journal of clinical and experimental dermatology” 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.
This case report describes a rare instance of familial congenital atrichia in a 16-year-old girl, possibly involving a genetic component, as both her parents exhibit similar clinical features.
83 citations
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October 1998 in “The American Journal of Human Genetics” A specific gene mutation causes complete hair loss in an Irish Traveller family.
8 citations
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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.
5 citations
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January 2018 in “Acta Dermatovenerologica Alpina Pannonica et Adriatica” This case study highlights congenital atrichia with papular lesions as a cause of total body hair loss, characterized by the absence of hair follicles and the presence of skin-colored papules.
September 2023 in “International journal of science and healthcare research” 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.
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.
47 citations
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April 2000 in “Experimental Dermatology” This study identified a novel missense mutation in the hairless gene in a Polish family, which may contribute to congenital atrichia with papular lesions by affecting the gene's function.
37 citations
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August 1999 in “Journal of Investigative Dermatology” This study identified a nonsense mutation in the zinc-finger domain of the hairless gene associated with congenital atrichia in a Japanese family, indicating a potential genetic cause for this rare form of alopecia.
26 citations
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October 2002 in “Journal of Investigative Dermatology” This study identifies a mutation in the hairless gene that may impact thyroid receptor interaction, contributing to alopecia universalis congenita in an Arab Israeli patient.
20 citations
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July 2005 in “Experimental dermatology” This study found that the fuzzy mutation in mice is linked to both structural hair defects and accelerated hair follicle cycling, influencing the regulation of hair cycle phases such as catagen and anagen.
15 citations
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October 1999 in “PubMed” This review discusses molecular genetic approaches to understanding and treating hair loss disorders like papular atrichia, highlighting potential future gene-based therapies, but reports no new clinical findings.
11 citations
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May 2011 in “World Journal of Pediatrics” The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
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.
5 citations
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December 1964 in “Australasian journal of dermatology” This article discusses congenital atrichia and presents no new clinical findings.
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.
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.
2 citations
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January 2014 in “Indian dermatology online journal” This report describes a case of isolated congenital atrichia combined with nevus flammeus.
19 citations
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May 2006 in “Clinical and Experimental Dermatology” This study identified a novel insertion mutation in the hairless gene that may contribute to the development of congenital atrichia with papular lesions in a Pakistani family.
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.
April 2020 in “International journal of research in dermatology” This case report presents an 8-year-old girl with congenital atrichia, marked by complete hair loss and papular lesions, linked to mutations in the human hairless gene.
5 citations
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June 2014 in “Der Hautarzt” This review discusses genetic causes and classification of rare, monogenic forms of alopecia and highlights the role of molecular genetic research in understanding hair loss mechanisms but reports no new clinical results.
23 citations
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November 2001 in “Archives of Dermatology” This review discusses recent advances in the genetic understanding of inherited hair and nail disorders and reports no new clinical results.
2 citations
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October 2000 in “Journal of Investigative Dermatology” AUC and APL are distinct conditions needing careful clinical assessment.
March 2023 in “International journal of trichology” This review discusses genetic conditions linked to complete scalp alopecia in children, identifying six genetic causes, but reports no new clinical results.
January 2006 in “Advances in developmental biology” This review discusses the roles of the hairless (HR) protein as a corepressor, particularly its impact on RORα-mediated transcriptional repression, and reports no new experimental findings.
24 citations
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January 2015 in “Current problems in dermatology” This review discusses diagnostic challenges and management approaches for pediatric hair disorders, emphasizing the importance of distinguishing between acquired and congenital conditions, and reports no clinical results.
74 citations
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October 2012 in “The American Journal of Human Genetics” This study found that loss-of-function mutations in the HOXC13 gene cause autosomal-recessive pure hair and nail ectodermal dysplasia, emphasizing its role in hair and nail development.