95 citations
,
February 2019 in “The New England Journal of Medicine” Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.
42 citations
,
September 2003 in “Journal of Investigative Dermatology” A missing mK6irs1 gene causes hair loss in mice.
43 citations
,
September 2001 in “Annals of Neurology” Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
1 citations
,
September 2016 in “Veterinary dermatology” A combination of ciclosporin and ketoconazole can effectively treat severe hair loss in dogs.
11 citations
,
June 2012 in “Acta histochemica” Mice with a Gsdma3 gene mutation have thicker skin and longer hair follicle openings due to increased β-catenin levels.
October 2023 in “Indian Dermatology Online Journal” Schimmelpenning Syndrome requires careful evaluation and tailored treatment for skin, eye, and developmental issues.
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.
Genetic testing can help diagnose skin conditions but needs more research for full effectiveness.
Trichoscopic examination is crucial for diagnosing congenital triangular alopecia.
December 2024 in “Chemical Senses” Taste disorders in Cronkhite-Canada syndrome are severe in the front of the tongue but improve with treatment.
April 2017 in “Journal of Investigative Dermatology” A virus protein can activate a pathway that may lead to abnormal hair follicle development.
21 citations
,
August 1987 in “Archives of Dermatology” High-dose methotrexate can cause severe skin and nail issues.
41 citations
,
November 2011 in “The Journal of Dermatology” Some hair loss disorders are caused by genetic mutations affecting hair growth.
37 citations
,
September 2005 in “Australasian Journal of Dermatology” A man with scalp and neck skin issues improved after a year of oral isotretinoin.
32 citations
,
June 2013 in “Journal of Investigative Dermatology” Mice without certain skin proteins had abnormal skin and hair development.
23 citations
,
February 2020 in “PLOS genetics” Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
28 citations
,
May 2000 in “Proceedings of the National Academy of Sciences” The Walleye dermal sarcoma virus cyclin causes excessive skin cell growth in mice.
September 2007 in “The American Journal of Gastroenterology” Cronkhite-Canada syndrome causes chronic diarrhea and has a poor prognosis despite treatment.
January 2026 in “American Journal of Medical Genetics Part A” A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
17 citations
,
June 2017 in “Gene” A rare genetic mutation found in an Indian family can be detected through prenatal screening.
2 citations
,
January 2014 in “Indian dermatology online journal” A person was born with both a rare hairless condition and a type of birthmark, which is an uncommon combination.
7 citations
,
January 2017 in “Annals of Dermatology” Oral cyclosporine combined with Pantogar® effectively treats twenty-nail dystrophy.
2 citations
,
May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
14 citations
,
June 2016 in “Pediatric Dermatology” Some congenital hair disorders improve with age and can be managed with treatments like minoxidil, retinoids, supplements, and gentle hair care, but there's no cure.
3 citations
,
October 2013 in “International Journal of Rheumatic Diseases” A young woman with severe symptoms of CPAN improved with intensive treatment but needed a leg amputation.
23 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” A boy with chromosome 13q deletion syndrome developed eye cancer, a woman with breast cancer lost vision due to a rare side-effect of her treatment, a man's vision worsened after using a hair loss drug, and two rare disorders were discussed. Optical Coherence Tomography is useful for diagnosing and monitoring these conditions.
9 citations
,
October 2015 in “Postgraduate Medical Journal” Scurvy can cause skin issues and is treatable with vitamin C.
71 citations
,
May 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” TTD hair brittleness is caused by multiple structural abnormalities.
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.
January 2024 in “International Journal of Advanced Research” Topical 6% salicylic acid effectively reduced skin plaques in a patient with wooly hair and palmoplantar keratoderma.