6 citations
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January 2015 in “Indian Dermatology Online Journal” PEODDN is a rare skin disorder with limited treatment options, best treated with laser therapy.
January 1962 in “Archives of Dermatology” A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.
5 citations
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January 1993 in “PubMed” Retinoic acid can change skin structures in vertebrates, like turning scales into feathers or hair buds into glands.
April 2019 in “Journal of the Endocrine Society” A woman's severe male-like symptoms were caused by a rare, benign tumor in her ovary that produced male hormones.
3 citations
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September 2022 in “European Journal of Dermatology” Gene sequencing is crucial for diagnosing Junctional epidermolysis bullosa.
77 citations
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April 2005 in “Journal of Investigative Dermatology” Repetin is a protein involved in skin and hair development, binding calcium and compensating for other proteins when needed.
1 citations
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September 2017 in “BMJ” The man has a disease causing skin patches, thickened nerves, and mild muscle weakness.
101 citations
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October 2007 in “Journal of Biological Chemistry” Reduced matriptase activity causes skin and hair issues in both humans and mice.
1 citations
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October 2022 in “PubMed” Gender affects wool traits in sheep, with males and females showing differences in skin proteins related to wool growth.
September 2021 in “Mağallaẗ al-Muẖtar li-l-ʿulūm” Two sisters have rare hair disorders causing short, fragile, kinky hair.
May 2010 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
May 2010 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
21 citations
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November 2014 in “Cytotechnology” 5 citations
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September 1991 in “Veterinary dermatology” Pygmy goats with seborrhoeic dermatitis showed skin symptoms and temporary improvement with corticosteroids, but the cause and inheritance of the disease remain unknown.
6 citations
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January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
8 citations
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June 2017 in “The Journal of Infection in Developing Countries” July 2020 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature”
45 citations
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November 1979 in “British Journal of Dermatology” Minoxidil causes excessive hair growth in almost all patients.
32 citations
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January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
September 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” A new staining method shows a special area in the hair's skin layer with lots of proteoglycans.
March 2025 in “International Journal of Trichology” Gloriosa superba poisoning can cause sudden hair loss, but hair usually regrows fully.
5 citations
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January 2012 in “Indian Journal of Dermatology Venereology and Leprology” Werner's syndrome causes early aging and increases cancer risk, requiring early diagnosis and symptom management.
10 citations
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July 2001 in “PubMed” A new type of pachyonychia congenita may exist, caused by a different keratin mutation.
12 citations
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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.
5 citations
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July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.” Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
2 citations
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October 2023 in “Cancer Reports” Mitochondrial features can predict colorectal cancer outcomes and improve immunotherapy.
4 citations
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July 2018 in “Molecules” Gene expression in milk cells and blood can help detect illegal rbST use in cows.
52 citations
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July 2011 in “PubMed” TRPS1 is crucial for bone, kidney, and hair follicle development.
36 citations
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July 1988 in “Archives of Dermatological Research” Pili annulati is caused by a protein metabolism disorder affecting hair structure.
1 citations
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June 2001 in “Annals of Internal Medicine” Troglitazone increases subcutaneous fat in lipodystrophy patients.