September 2022 in “Frontiers in genetics” A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
August 2022 in “Frontiers in genetics” A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
January 2022 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)” Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.
December 2021 in “Research Square (Research Square)” Hair follicle sampling is a feasible method to measure FMRP and FMR1 mRNA levels in children.
December 2021 in “Molecular genetics and genomics” Cats with abnormal hair had DSG4 gene changes causing hair problems.
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
November 2020 in “International journal of contemporary pediatrics” Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
November 2019 in “Harper's Textbook of Pediatric Dermatology” Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.
July 2019 in “Journal der Deutschen Dermatologischen Gesellschaft” A mother and daughter have a rare genetic hair loss disorder with no effective treatment.
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
January 2016 in “Springer eBooks” A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.
May 2015 in “Journal of Dermatological Science” Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
April 2015 in “Andrology” HNG may help prevent the negative effects of chemotherapy on sperm production and white blood cell counts.
May 2014 in “JAMA Dermatology” Mother and son diagnosed with a rare genetic hair loss condition with no effective treatment.
November 2011 in “Pediatric dermatology” Marie-Unna Hereditary Hypotrichosis is a rare genetic condition causing sparse hair growth, requiring specific recognition for proper care.
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
July 2003 in “British Journal of Dermatology” Some skin conditions are associated with other serious diseases, and office microscopy may miss many fungal infections.
April 2003 in “Experimental Dermatology” The workshop highlighted the genetic links and psychological impacts of hair loss and skin disorders.
June 1996 in “Irish Journal of Medical Science (1971 -)” The document summarizes medical findings on topics like heart rhythm treatment, sleep apnea therapy, and various health conditions and treatments.
November 1983 in “American Biology Teacher” Pattern baldness is likely caused by a dominant gene influenced by testosterone levels, making it more common in men.
April 1906 in “The American Journal of the Medical Sciences” Keratosis Pilaris Atrophicans causes skin scarring and might be treated with a new synthetic retinoid.
75 citations,
September 2007 in “Journal of Heredity” FGF5 gene mutations cause long hair in domestic cats.
5 citations,
December 2014 in “Molecular cytogenetics” A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
4 citations,
January 2000 in “PubMed” Early balding in men might be a male hormonal equivalent of polycystic ovaries syndrome in women.
April 2005 in “Journal of Investigative Dermatology” Vitamin D helps protect skin, PSORS1 gene's risk interval for psoriasis is expanded, hair follicles can be generated from mouse cells, and interferon-γ may cause pigmented skin lesions.
143 citations,
January 2007 in “The American Journal of Human Genetics” Certain genes on chromosomes 6, 10, 16, and 18 may increase the risk of alopecia areata.
71 citations,
February 2012 in “The American Journal of Human Genetics” A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
4 citations,
December 2021 in “Journal of clinical laboratory analysis” A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
2 citations,
November 2022 in “Skin research and technology” 5% topical minoxidil improves hair density and quality in monilethrix patients.
2 citations,
August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.