32 citations
,
February 2008 in “Journal of the American Academy of Dermatology” This case report describes a family with autosomal dominant transmission of keratosis follicularis spinulosa decalvans, with observed treatment refractoriness in multiple topical and systemic therapies.
1 citations
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January 2018 in “Jornal Brasileiro de Patologia e Medicina Laboratorial” This case report describes a 10-year-old girl with monilethrix, detailing hereditary autosomal dominant traits and distinctive nodular hair shaft abnormalities observed in her family through clinical examination and microscopic analysis.
October 2023 in “University of Zadar Institutional Repository” This paper describes androgenic alopecia as a hereditary form of hair loss influenced by androgens, outlining its diagnosis, treatment options like minoxidil and finasteride, and the importance of psychological support due to its impact on quality of life.
21 citations
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April 2010 in “Pediatrics in Review” This article reviews various causes and diagnostic approaches to delayed puberty in boys and girls and does not report any new clinical findings; it emphasizes the importance of distinguishing between different underlying conditions.
9 citations
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December 2012 in “Indian Journal of Dermatology Venereology and Leprology” This study reports a rare case of a 40-year-old woman with multiple calcified trichilemmal cysts, associated with alopecia universalis and suggesting a potential genetic link.
5 citations
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April 2023 in “Life” This review discusses central centrifugal cicatricial alopecia in adolescents, noting varied presentation and highlighting genetic and environmental factors, but reports no new clinical findings.
2 citations
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January 2024 in “Revista Paulista de Pediatria” In this case report, researchers described a 6-year-old girl with severe mandibuloacral dysplasia type A, noting unique physical deformities and a rare homozygous LMNA gene mutation not commonly associated with the condition.
January 2022 in “International journal of zoology and animal biology” This review discusses canine dermatomyositis, highlighting its genetic basis, clinical manifestations, and the need for improved treatment options, without reporting new findings.
2 citations
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March 2011 in “International Journal of Dermatology” This case report describes an 18-year-old male with IFAP syndrome, confirmed by total hair loss, severe photophobia, and characteristic skin changes, marking a rare presentation of the condition.
21 citations
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April 2014 in “PLoS ONE” In this study, researchers identified a novel KRT74 gene mutation associated with autosomal recessive pure hair and nail ectodermal dysplasia in a Pakistani family, expanding the known genetic causes of the disorder.
This case study suggests that obstructive sleep apnea syndrome may be hereditary in patients with connective tissue disorders due to a variant in the COL1A2 gene.
80 citations
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January 1995 in “The American Journal of Medicine” Hair loss in androgenetic alopecia is caused by genetic factors and androgen excess, and can be treated with combined therapies.
78 citations
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May 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes woolly hair and hair loss.
39 citations
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December 2012 in “The American Journal of Human Genetics” This study identified mutations in the SNRPE gene that may disrupt hair growth, linking a spliceosome component to hereditary hair loss disorders.
In this case report, topical application of fluocinolone acetonide acetate ointment increased hair length and thickness in three family members with congenital hypotrichosis.
33 citations
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September 2017 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes woolly hair and hair loss.
8 citations
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June 2016 in “Journal of Investigative Dermatology” A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
40 citations
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December 2010 in “Human Genetics” 34 citations
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July 2020 in “American journal of human genetics” This study identified mutations in the SREBF1 gene that impair SREBP1 function, potentially contributing to IFAP syndrome by affecting skin, hair, and eye development.
6 citations
,
January 2013 in “The Journal of Dermatology” Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.
20 citations
,
July 2013 in “European Journal of Oral Sciences” This study found a novel PAX9 gene mutation that may cause tooth agenesis and trichodysplasia in a studied family.
1 citations
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January 2018 in “Acta dermato-venereologica” A teenager's hair with alternating white and dark bands, known as Pili annulati, is a genetic condition that is usually harmless and often considered attractive.
July 2019 in “Journal der Deutschen Dermatologischen Gesellschaft” This source reports findings from a case study detailing hair loss in two female patients, published in the JDDG: Journal der Deutschen Dermatologischen Gesellschaft, emphasizing that specific diagnostic outcomes or treatment results are not included in the summary.
25 citations
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October 1996 in “Dermatologic Clinics” This article discusses loose anagen syndrome, highlighting its characteristics, diagnostic methods, and spontaneous improvement over time, but provides no new clinical results.
This genetic study identified a potential interval for the Marie Unna hypotrichosis gene but found no mutations in the nearby hr gene, suggesting its involvement remains unconfirmed.
2 citations
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January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
4 citations
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January 2014 in “International Journal of Trichology” This report presents a 12-year-old male with symptoms indicative of Marie-Unna type hereditary hypotrichosis, characterized by a specific pattern of hair loss evolving with age.
July 2024 in “Journal Archives of Health” This study reviewed the medical literature on generalized woolly hair and reported that while there are no effective treatments, some narratives suggest that topical Minoxidil may help with hypotrichosis associated with the condition.
September 2021 in “Mağallaẗ al-Muẖtar li-l-ʿulūm” This report describes a case of two sisters with kinky, tangled hair diagnosed using trichoscopic and microscopic methods; they were treated with topical minoxidil.
28 citations
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February 2012 in “PLoS ONE” In this study, researchers identified a novel congenital skin disorder in Chesapeake Bay retrievers, linked to a plakophilin-1 deficiency due to a genetic mutation, marking the first known occurrence in an animal species.