51 citations
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January 1997 in “PubMed” GABEB is a less severe skin condition caused by a gene mutation affecting collagen, leading to blisters and other symptoms.
17 citations
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June 2016 in “Archives de Pédiatrie” Frontal fibrosing alopecia can occur in children, not just postmenopausal women.
27 citations
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April 2018 in “Scientific Reports” Psoriasis patients' immune response to a hair protein depends on their specific gene type.
August 1993 in “Journal of Dermatological Science” November 2025 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” Restoring phenylalanine levels improved skin and hair symptoms in a PKU infant.
6 citations
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June 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
August 2016 in “Journal of the American Academy of Dermatology” The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
2 citations
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January 2018 in “International Journal of Trichology” Two sisters had a rare hair condition without other usual symptoms.
1 citations
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January 2025 in “Journal of Fungi” Erythema nodosum linked to kerion can be treated effectively with antifungals and steroids to reduce scarring.
May 2022 in “Experimental dermatology” Trichothiodystrophy hair is structurally abnormal with protein and organization issues.
27 citations
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May 2004 in “Journal of Investigative Dermatology”
A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.
19 citations
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April 1999 in “British Journal of Dermatology” Keratin 2e shows a unique pattern in developing fetal skin, different from other keratins.
November 2024 in “JAAD Case Reports” A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
June 2018 in “Dermatologic Surgery” 54 citations
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January 1995 in “Human Molecular Genetics” Monilethrix is linked to a gene cluster on chromosome 12.
January 2022 in “Nasza Dermatologia Online” Dermoscopy helps doctors recognize a type of benign skin tumor called pilomatricoma.
July 2020 in “DOAJ (DOAJ: Directory of Open Access Journals)” Excessive sun protection might contribute to frontal fibrosing alopecia.
3 citations
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September 1998 in “International Journal of Dermatology” Acitretin effectively improved the woman's skin condition.
October 2007 in “Journal of Investigative Dermatology” The meeting highlighted the genetic basis of female pattern hair loss and various skin health insights.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
71 citations
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January 2011 in “Orphanet Journal of Rare Diseases” IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
September 2017 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” CCCA can affect both genders and all ages, and it has a genetic component.
November 2012 in “Annales de Dermatologie et de Vénéréologie” Frontal fibrosing alopecia can occur in children, not just postmenopausal women.
33 citations
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August 2014 in “Veterinary Dermatology” Keratinocytes play a key role in skin health, but more research is needed.
March 2026 in “Nature Communications” Genetic factors, skin barrier, immune function, and obesity influence risk of fungal skin infections.
5 citations
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October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” The research linked PLCD1 gene variants to the development of trichilemmal cysts.
24 citations
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March 1998 in “Mycoses” Early diagnosis and effective treatment of kerion Celsi prevent scarring and permanent hair loss.
November 2024 in “Journal of Investigative Dermatology” Blocking the JAK/STAT pathway may help reduce skin sensitivity in Xeroderma pigmentosum.
May 2024 in “Frontiers in medicine” A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.