62 citations
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October 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
March 2025 in “International Journal of Trichology” Vigorous rubbing of herbal powder on the scalp caused hair damage and loss.
20 citations
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January 2009 in “International Journal of Dermatology” Hair loss in Clouston's syndrome improved with minoxidil and tretinoin treatment.
26 citations
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April 2007 in “Journal of clinical oncology”
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.
2 citations
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July 2021 in “Genes” A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
37 citations
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March 2005 in “Journal of Paediatrics and Child Health” A hair strand caused a rare case of limb strangulation in a teenage girl with autism, and the condition is not always linked to child abuse.
September 2022 in “JAAD case reports” The man has a genetic skin condition called pachyonychia congenita.
December 2024 in “European journal of medical research”
29 citations
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May 2018 in “Clinical Endocrinology” Recent genetic insights show that low-renin hypertension includes a range from essential hypertension to secondary or familial forms, affecting diagnosis and treatment.
March 2023 in “JAAD case reports” A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
December 2024 in “Pediatrics in Review” Early detection and treatment of Menkes disease with copper injections are crucial for better outcomes.
February 2025 in “Geriatrics and gerontology international/Geriatrics & gerontology international” Genetic testing is recommended for young patients showing signs like cataracts and hair changes to diagnose Werner syndrome early.
5 citations
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June 2014 in “Gastroenterology report” Cronkhite-Canada syndrome can sometimes show unusual colonic adenomatous polyps.
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
October 2023 in “BMJ Case Reports” Thyroid hormone therapy effectively treated the man's rare muscle and heart issues.
1 citations
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December 2013 in “BMJ case reports” A pregnant woman with Werner's syndrome died during childbirth, but her baby survived and did not have the syndrome.
2 citations
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January 2000 in “Journal of Toxicologic Pathology” A single recessive gene causes sparse hair in certain Japanese White rabbits.
12 citations
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January 2013 in “Indian dermatology online journal” The document reports a unique case of woolly hair with a combination of conditions not previously seen together.
January 2023 in “Pediatrics International” Non-classical 21-hydroxylase deficiency can be missed in newborn screenings and should be considered in cases of early puberty or virilization.
11 citations
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December 2013 in “Clinical and experimental dermatology” A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
23 citations
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September 2009 in “Child Abuse & Neglect” Checking family social conditions in tourniquet syndrome cases can help find neglect.
1 citations
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October 2019 in “International journal of contemporary pediatrics” A 12-year-old boy with twenty nail dystrophy, a condition affecting all nails, was treated conservatively due to its self-limiting nature and good prognosis.
10 citations
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January 2003 in “Dermatology” The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
September 2025 in “Indian Journal of Child Health” Satoyoshi Syndrome is hard to diagnose and treat due to its rarity and complex symptoms.
January 2013 in “International Journal of Trichology” A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
June 2021 in “International journal of research in dermatology” A boy and his father with hereditary hypotrichosis simplex were treated for hair loss, but the treatment result is unknown.
February 2021 in “PubMed” A 2-year-old girl had a hair disorder not shared by her identical twin.
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.
29 citations
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January 1996 in “The Journal of Clinical Endocrinology & Metabolism” A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.