January 2011 in “Journal of Human Genetics” A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
10 citations
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March 2019 in “Human Genetics” A genetic mutation in the SGK3 gene causes hairlessness in Scottish Deerhounds and may relate to human hair loss.
53 citations
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May 1996 in “The Journal of Clinical Endocrinology & Metabolism” Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
2 citations
,
March 2016 in “Serbian Journal of Dermatology and Venerology” A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.
12 citations
,
March 2004 in “International Journal of Dermatology” A woman with X-linked chronic granulomatous disease developed lupus-like skin lesions, improved with treatment, suggesting a unique skin condition in carriers.
12 citations
,
April 2004 in “PubMed” A rare skin condition in a baby showed unusual fat and hair follicle changes.
21 citations
,
September 1997 in “British Journal of Dermatology” Monilethrix is linked to the type II keratin gene on chromosome 12q13.
43 citations
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September 2001 in “Annals of Neurology” Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
Nicolaides-Baraitser syndrome may cause eczema and hair loss, needing early skin care and treatment.
April 2018 in “African journal of rheumatology” A Nigerian teenager was diagnosed with neuropsychiatric lupus, showing various severe symptoms and abnormal lab results.
January 2026 in “American Journal of Medical Genetics Part A” A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
38 citations
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September 2017 in “Journal of zoo and wildlife medicine” Oclacitinib maleate successfully treated alopecia in Andean bears.
September 2021 in “Mağallaẗ al-Muẖtar li-l-ʿulūm” Two sisters have rare hair disorders causing short, fragile, kinky hair.
175 citations
,
August 1997 in “Nature Genetics” October 2013 in “The American Journal of Gastroenterology” The man's diarrhea was caused by a rare disorder called Cronkhite-Canada syndrome, which improved with specific medications.
5 citations
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October 2016 in “Anais Brasileiros de Dermatologia” A man from Brazil had a rare case of leprosy on his scalp, which improved with treatment.
3 citations
,
September 2018 in “JAAD case reports” A Japanese man with rare skin conditions improved with hydroxychloroquine treatment.
January 2014 in “Redalyc (Universidad Autónoma del Estado de México)” A Persian cat had a rare skin condition that didn't improve with treatment.
1 citations
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May 2019 in “The Journal of Pediatrics” The baby's hair loss was due to congenital syphilis, which was treated with penicillin.
13 citations
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June 2010 in “Journal of The American Academy of Dermatology” A man with Cronkhite-Canada syndrome had all 20 nails detach but improved with treatment.
April 2024 in “Rheumatology” A young woman with visual issues and other symptoms was diagnosed with lupus and antiphospholipid syndrome, and improved with treatment.
1 citations
,
November 2021 in “Advances in Dermatology and Allergology” Most patients with cutaneous lupus erythematosus in Bangladesh are young women, with chronic forms and photosensitivity being common.
2 citations
,
June 2020 in “Dermatology and therapy” Narrowband-UVB phototherapy successfully treated a rare case of Graham Little-Piccardi-Lassueur syndrome.
9 citations
,
January 2020 in “Rheumatology Advances in Practice” SLE is rare in Uganda but often has complications and overlaps with rheumatoid arthritis.
2 citations
,
September 2021 in “JAAD case reports” A man with a weakened immune system was diagnosed with a rare skin condition called trichodysplasia spinulosa using skin examination techniques.
August 2018 in “Pediatric Dermatology” A baby had a unique skin condition with a pale patch and surrounding dark hairs, not linked to other health issues.
10 citations
,
March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
14 citations
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July 2009 in “European Journal of Gastroenterology & Hepatology” Rapunzel syndrome is more common in Asian countries and requires early diagnosis, especially in Asian girls.
September 2023 in “British Journal of Dermatology” Some cases of short anagen hair syndrome are linked to specific genetic variations that are also connected to male pattern baldness.