November 2025 in “American Journal of Case Reports” Genetic testing is crucial for diagnosing and treating acrodermatitis enteropathica effectively.
14 citations
,
May 1979 in “International Journal of Dermatology” Trichostasis spinulosa mainly affects the nose, with many tiny hairs in one follicle, possibly influenced by hormones and sunlight.
88 citations
,
August 1998 in “Carcinogenesis” High levels of ODC and a mutant Ha-ras gene cause tumors in mice.
56 citations
,
April 2015 in “American journal of medical genetics. Part A” Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
50 citations
,
February 2016 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
April 2015 in “Experimental Dermatology” Melanoma risk tools need improvement, certain gene mutations cause skin diseases and could be treated by targeting those mutations, skin wrinkling may relate to lung aging due to genetic factors, and oxidative stress affects hair loss but can be reduced in low oxygen.
71 citations
,
January 2011 in “Journal of cutaneous pathology” A rare skin condition was confirmed to be associated with a specific virus in a young girl.
1 citations
,
July 2017 in “PubMed” Two patients with Cronkhite-Canada syndrome achieved remission after treatment.
February 2026 in “bonndoc (University of Bonn)” New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
6 citations
,
December 2015 in “Medicine” Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
28 citations
,
July 1980 in “British Journal of Dermatology” The hair disorder was caused by abnormal protein formation, making hair easily damaged.
March 2024 in “Indian Journal of Dermatology” The man was diagnosed with Cronkhite-Canada syndrome, a rare disorder with GI polyps, skin issues, hair loss, and nail problems.
20 citations
,
October 2005 in “Archives of Dermatological Research” 8 citations
,
December 2016 in “Hormone Research in Paediatrics” Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.
2 citations
,
August 2017 in “British Journal of Dermatology” Hair loss in Cronkhite-Canada syndrome may be due to an autoimmune response.
12 citations
,
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.
13 citations
,
April 1994 in “Baillière's clinical endocrinology and metabolism” Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.
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.
July 2024 in “Journal Archives of Health” Woolly hair is a rare genetic condition with no effective treatments.
1 citations
,
January 2014 in “International Journal of Trichology” A patient with a rare hair condition and skin disorder showed hair improvement after treatment.
3 citations
,
May 2024 in “BMC Medical Genomics” A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
11 citations
,
February 2011 in “The Journal of Dermatology” Mutations in the hairless gene cause a rare form of permanent hair loss.
11 citations
,
September 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.
9 citations
,
March 2018 in “European journal of dermatology/EJD. European journal of dermatology” A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
September 2015 in “Turkish Journal of Endocrinology and Metabolism” Consider Werner syndrome in young patients with early aging signs and metabolic issues.
August 2024 in “OSMANGAZİ JOURNAL OF MEDICINE” The visfatin GT genotype may increase the risk of Alopecia Areata.
372 citations
,
December 2004 in “Nature Genetics”
June 2023 in “British Journal of Dermatology” A person with Werner syndrome was initially thought to just have female pattern hair loss.
151 citations
,
June 2010 in “Endocrinology and metabolism clinics of North America” Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
October 2025 in “Dermatology Practical & Conceptual” Ultraviolet techniques help identify Grover’s Disease, which may be underdiagnosed in young people and females.