3 citations
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July 2024 in “Skin Research and Technology” Asthma may increase the risk of alopecia areata.
17 citations
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September 2010 in “Pediatric dermatology” A 15-year-old with KID syndrome developed a rare skin condition called PEHFN.
July 2018 in “Kidney international” Genetic testing for EGFR mutations is crucial in similar cases.
Obstructive sleep apnea can be hereditary and linked to a genetic mutation in the COL1A2 gene.
August 2023 in “Journal of the American Academy of Dermatology” CCCA affects Black men too, with a genetic link found in the PADI3 gene.
11 citations
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March 2020 in “American Journal of Medical Genetics Part A” A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
6 citations
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January 2014 in “Clinical hemorheology and microcirculation” Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.
151 citations
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December 2004 in “Annals of the New York Academy of Sciences” Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
1 citations
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August 2015 in “AACE Clinical Case Reports” A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.
January 2024 in “International Journal of Trichology” Recognizing perinevoid alopecia and concentric regrowth is important for diagnosing and treating alopecia areata.
December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
1 citations
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December 2016 in “Revista română de medicină de laborator” The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
66 citations
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June 2018 in “British Journal of Dermatology” European guidelines recommend regular eye and ear exams, skin care, vitamin D supplements, and cautious use of medications for managing congenital ichthyoses.
February 2026 in “Endokrynologia Polska” Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
October 2019 in “European Journal of Dermatology” The boy's hair and skin color differences are due to a pigmentation disorder.
4 citations
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August 2006 in “The Journal of Dermatology” HLA can be linked to autoimmune hepatitis.
1 citations
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May 2019 in “DOAJ (DOAJ: Directory of Open Access Journals)” Acrodermatitis enteropathica can be linked to dental issues, so thorough dental exams are important.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
A 22-year-old woman with a rare genetic condition was successfully treated to develop normal female characteristics and regular menstruation.
95 citations
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February 2019 in “The New England Journal of Medicine” Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.
72 citations
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March 2005 in “British Journal of Dermatology” AGA can occur in children with family history; early diagnosis and treatment important.
9 citations
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May 2021 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Topical minoxidil may help treat a rare genetic hair condition with no fully effective treatments yet.
2 citations
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April 1970 in “Archives of Dermatology” Ichthyosis serpentina may be a variant linked to bamboo hair, with a possible genetic component.
September 2021 in “CRC Press eBooks” CCCA is a common hair loss condition in African American women, often inherited and influenced by hairstyling, with unique scalp features detectable by special tools.
6 citations
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June 2008 in “Journal of the European Academy of Dermatology and Venereology” A man with Acrodermatitis continua did not get better with etanercept treatment, and his condition worsened, suggesting treatment effectiveness may vary by genetics and race.
161 citations
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March 1992 in “International Journal of Dermatology” Alopecia areata often starts before age 20, is more common in women, and may have a genetic link with other autoimmune diseases.
61 citations
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April 1980 in “Journal of the American Academy of Dermatology” A new syndrome may link skin, growth, mental, and hair issues.
2 citations
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June 2013 in “Journal of Clinical Pathology” The LMNA mutation affects skin structure even in asymptomatic carriers.
7 citations
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January 2012 in “International Journal of Trichology” Sudden, unusual hair loss may indicate serious underlying health issues.
March 2026 in “JID Innovations” Aire mutation reduces alopecia areata, while Notch4 mutation prevents it in mice.