1 citations
,
June 2015 in “Australasian Journal of Dermatology” A patient with Cronkhite-Canada syndrome improved with nutritional support and steroids, but early diagnosis is key due to high mortality.
84 citations
,
April 2002 in “Archives of Dermatology” Loose anagen hair syndrome may be caused by keratin gene mutations.
53 citations
,
March 2006 in “Biopolymers” TTD hair is brittle due to fewer sulfur amino acids and unstable disulfide bonds.
2 citations
,
February 2009 in “Clinical and Experimental Dermatology” A man had rare skin tumors with bone formation and cholesterol deposits.
January 2024 in “Ankara City Hospital Medical Journal” Rhupus is a complex syndrome that is hard to diagnose due to unclear clinical criteria.
33 citations
,
October 2018 in “BMJ Case Reports” Aggressive treatment in young patients with certain drug reactions may lead to multiple autoimmune diseases later.
17 citations
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November 2012 in “Journal of Investigative Dermatology” The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
11 citations
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January 1989 Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.
July 2024 in “Journal of Investigative Dermatology” Spontaneous keloids may be linked to nephrogenic systemic fibrosis in dialysis patients.
October 2025 in “Frontiers in Medicine” Zinc supplements improved symptoms in a Uyghur infant with a rare genetic disorder affecting zinc absorption.
21 citations
,
March 2015 in “Neurological Sciences” A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
2 citations
,
January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
6 citations
,
February 1985 in “Archives of Dermatology” Systemic corticosteroids can cause unusual skin issues in people with juvenile rheumatoid arthritis.
13 citations
,
October 2003 in “Clinical pediatrics” Steroid treatment greatly improved the symptoms of a boy with a rare disorder called Satoyoshi syndrome.
May 2025 in “The Journal of Rheumatology” Middle-aged women with dilated cardiomyopathy should be screened for antiphospholipid syndrome.
November 2024 in “Journal of Investigative Dermatology” Scalp hair follicle cells help protect and heal skin in certain skin conditions.
47 citations
,
February 1998 in “Journal of bone and mineral research” A specific gene mutation causes vitamin D-resistant rickets and hair loss.
2 citations
,
March 2024 in “Pediatric Dermatology” Two siblings have a rare hair condition caused by a new genetic variant.
1 citations
,
May 2026 in “Nature Communications” CD19-CAR T cell therapy may help regenerate skin in systemic sclerosis.
October 2023 in “CHEST Journal” Early recognition and treatment of severe SLE symptoms can improve outcomes.
1 citations
,
August 2011 in “Dermatology Reports” Two siblings were found to have a genetic condition causing progressive hair loss and woolly hair, which may often be misdiagnosed.
3 citations
,
August 2010 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” A rare genetic disease caused severe, worsening hair loss from early childhood with poor treatment results.
19 citations
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October 1996 in “International Journal of Dermatology” Pseudopelade is a rare inherited hair loss condition with a genetic cause.
January 2017 in “Murdoch Research Repository (Murdoch University)” A new genetic variant in the EEF2K gene may contribute to polycystic ovary syndrome.
55 citations
,
November 2018 in “American journal of human genetics” Mutations in the LSS gene cause a rare type of hereditary hair loss.
33 citations
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November 1999 in “The Veterinary clinics of North America. Small animal practice/Veterinary clinics of North America. Small animal practice” Dogs with zinc-responsive dermatosis need zinc supplements or dietary changes for treatment.
16 citations
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March 2013 in “The Journal of Dermatology” Low TRPS1 expression in skin and hair cells is linked to hair problems in Trichorhinophalangeal syndrome.
142 citations
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August 2015 in “Arthritis & Rheumatology” Systemic sclerosis skin shows varied gene patterns, suggesting potential for personalized treatment.
7 citations
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August 2019 in “JAAD Case Reports” Hidradenitis suppurativa may be more severe in people with Mediterranean fever gene mutations.
6 citations
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August 2012 in “The Journal of Pediatrics” A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.