185 citations
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December 2010 in “Archives of Biochemistry and Biophysics” Keratin gene mutations cause various skin and hair disorders, but new research offers hope for future treatments.
9 citations
,
January 1975 in “Munich Personal RePEc Archive (Ludwig Maximilian University of Munich)” Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
17 citations
,
January 2011 in “Indian journal of dermatology, venereology, and leprology” A rare genetic skin condition usually affecting males was found in a 9-year-old girl.
2 citations
,
January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
May 2020 in “International journal of dermatology and venereology” Hair matrix cysts are rare skin nodules with unique features, often needing surgical removal.
November 2021 in “Clinical, cosmetic and investigational dermatology” An elderly woman with cancer improved after treatment for a rare skin condition with coiled hairs.
3 citations
,
March 2017 in “Pediatric Dermatology” FOXN1 duplication can cause excessive hair growth.
September 2024 in “Journal of Medical Case Reports” People with keratosis pilaris might be more likely to get a rare type of tinea versicolor.
47 citations
,
July 1998 in “Journal of Investigative Dermatology” A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
24 citations
,
July 2014 in “Journal of Investigative Dermatology” Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
80 citations
,
January 1979 in “Journal of Surgical Oncology” Keratoacanthoma is a common, usually non-dangerous skin tumor that looks like squamous cell carcinoma but rarely becomes severe.
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.
79 citations
,
February 2009 in “Human Genetics” 6 citations
,
May 2000 in “Pediatric Dermatology” KID syndrome should be reclassified as an ectodermal dysplasia.
April 2025 in “International Journal For Multidisciplinary Research” Hypertrichosis causes excessive hair growth and can be managed with treatments like laser, electrolysis, or new topical solutions.
30 citations
,
January 2013 in “Human Mutation” A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
14 citations
,
July 1994 in “Journal of Dermatological Science” Keratin mutations may cause scarring alopecia by damaging hair structure.
4 citations
,
June 2014 in “The Journal of Dermatology” Elkonyxis, a rare nail condition, improved when patients stopped their nail-picking habits.
4 citations
,
January 2020 in “Dermatology Online Journal” Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.
69 citations
,
January 2015 in “Cell & tissue research/Cell and tissue research” Keratin mutations cause skin diseases and could lead to new treatments.
27 citations
,
April 2018 in “Scientific Reports” Psoriasis patients' immune response to a hair protein depends on their specific gene type.
4 citations
,
August 2006 in “The Journal of Dermatology” HLA can be linked to autoimmune hepatitis.
10 citations
,
January 1995 in “Dermatology” Dermatologists should consider congenital syndromes like TRPS in young adults with early hair loss.
The woman was diagnosed with lichen sclerosus, a rare skin condition, after initial misdiagnosis and ineffective treatments.
24 citations
,
January 1998 in “Dermatology” Merkel cell increase is specific to certain skin diseases, not general skin growth.
July 2025 in “Dermatology Practical & Conceptual” Hair changes and a high occipital hairline may help diagnose Trichorhinophalangeal Syndrome.
February 1985 in “PubMed” May 2002 in “Journal of Investigative Dermatology” New findings on hair keratin, wound healing, and skin blistering were presented.
11 citations
,
February 2011 in “The Journal of Dermatology” Mutations in the hairless gene cause a rare form of permanent hair loss.
6 citations
,
June 1993 in “Veterinary Dermatology” A female Rottweiler had a rare genetic condition causing mostly hairless skin.