60 citations
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April 2018 in “Clinical, cosmetic and investigational dermatology” Tight hairstyles and chemical relaxers can cause hair loss known as traction alopecia.
74 citations
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January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
28 citations
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July 1980 in “British Journal of Dermatology” The hair disorder was caused by abnormal protein formation, making hair easily damaged.
May 2025 in “The Journal of Rheumatology” Early recognition and management of gastrointestinal tuberculosis in lupus patients are crucial to prevent complications.
April 2020 in “International journal of research in dermatology” An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.
Recognize Rapunzel syndrome in children with unexplained stomach issues for timely treatment.
36 citations
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March 2011 in “Nature Communications” Cells from a skin condition can create new hair follicles and similar growths in mice, and a specific treatment can reduce these effects.
57 citations
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August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
53 citations
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August 2015 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” Excessive body hair can signal complex health issues.
January 2011 in “Yearbook of Dermatology and Dermatologic Surgery” March 2021 in “AACE clinical case reports” A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.
18 citations
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August 2024 in “eLife” JAK inhibition may help manage autoimmune conditions in Down syndrome.
19 citations
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August 2020 in “Gastroenterology report” There is no standard treatment for the rare Cronkhite–Canada syndrome, which can be fatal and lead to cancer.
62 citations
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January 2010 in “Hormone research in paediatrics” Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
11 citations
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January 2021 in “British Journal of Dermatology” Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
24 citations
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July 1983 in “Clinical and Experimental Dermatology” Tigason improved hair growth in a boy with monilethrix without side effects.
11 citations
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May 2010 in “Pigment Cell & Melanoma Research” Two genes, Tabby and Ticked, determine cat coat patterns.
January 2011 in “International Journal of Trichology” The document concludes that doctors should recognize congenital triangular alopecia to avoid unnecessary treatments, as it does not respond to steroids like alopecia areata does.
55 citations
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November 2018 in “American journal of human genetics” Mutations in the LSS gene cause a rare type of hereditary hair loss.
17 citations
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August 2012 in “Journal of Medical Genetics” A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
8 citations
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December 2019 in “Molecular genetics and metabolism reports” Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
20 citations
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October 2005 in “Archives of Dermatological Research” December 2025 in “Cureus” Avoiding friction and using topical treatments can significantly improve rough skin caused by repeated rubbing.
9 citations
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January 2017 in “Annals of Dermatology” The study found genetic differences related to hair development that may explain hair loss in a patient with Trichorhinophalangeal syndrome type I.
January 2023 in “Indian Dermatology Online Journal” Uncombable hair syndrome is linked to Zellweger syndrome.
30 citations
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August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
3 citations
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November 2015 in “International Journal of Dermatology” Trichostasis spinulosa is common but often underdiagnosed, mainly affecting women's faces.
August 2018 in “Journal of The American Academy of Dermatology” A 54-year-old man with painful skin blisters and fever was diagnosed with Sweet syndrome and successfully treated with corticosteroids.
17 citations
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January 1991 in “Acta Dermato Venereologica” A family had a genetic condition causing hair loss on the scalp, passed down through four generations.
7 citations
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July 2020 in “Immunological Investigations” The rs231775 genetic variant is linked to a higher risk and severity of Alopecia Areata in males.