2 citations
,
September 2021 in “JAAD case reports” A man with a weakened immune system was diagnosed with a rare skin condition called trichodysplasia spinulosa using skin examination techniques.
30 citations
,
August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
May 2025 in “Dermatology Reports” A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.
November 2022 in “Frontiers in pediatrics” A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
74 citations
,
January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
31 citations
,
August 2005 in “The American Journal of Dermatopathology” The study concluded that PKP1 is essential for skin integrity and hair growth, and its dysfunction causes the symptoms of ectodermal dysplasia/skin fragility syndrome.
2 citations
,
March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” A new type of hereditary hair loss in a Chinese family is linked to chromosome 2p25.1–2p23.2.
January 1991 in “Linchuang pifuke zazhi”
32 citations
,
January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
4 citations
,
August 2018 in “Journal of pediatric neurology” Becker's Nevus Syndrome is a rare condition with a skin patch and possible bone and muscle abnormalities, treated mainly for appearance.
6 citations
,
June 2008 in “Journal of the European Academy of Dermatology and Venereology” A man with Acrodermatitis continua did not get better with etanercept treatment, and his condition worsened, suggesting treatment effectiveness may vary by genetics and race.
13 citations
,
January 2018 in “Yonsei Medical Journal” A specific gene mutation causes Olmsted syndrome.
April 2025 in “Revista Digital de Postgrado” Severe malnutrition in young children causes various skin and nail issues, mainly pigmentation changes and extreme thinness.
January 2018 in “International Journal of Medical Reviews and Case Reports” A 6-year-old girl with head lice developed scarring hair loss but improved with treatment.
30 citations
,
May 1980 in “Journal of the American Academy of Dermatology” Alopecia areata can cause spotty white areas on nails.
55 citations
,
May 2007 in “Australasian journal of dermatology” Two boys developed a viral skin infection during chemotherapy, which resolved with improved immune function.
66 citations
,
June 2018 in “British Journal of Dermatology” European guidelines recommend regular eye and ear exams, skin care, vitamin D supplements, and cautious use of medications for managing congenital ichthyoses.
26 citations
,
December 2011 in “Journal of Investigative Dermatology” New gene identification techniques have improved the understanding and classification of inherited hair disorders.
97 citations
,
January 1999 in “International Journal of Dermatology” Pityriasis rubra pilaris is a rare skin disorder with reddish-orange patches and thickened skin, needing better treatment understanding.
1 citations
,
January 2020 in “Skin appendage disorders” A family was found with both Trichorhinophalangeal syndrome and Loose Anagen Syndrome, suggesting a genetic connection.
2 citations
,
June 2024 in “Journal of Clinical Medicine” Alopecia Areata can affect nails, often improving on its own, but JAK inhibitors may help.
7 citations
,
August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
12 citations
,
October 1996 in “Dermatologic clinics” Advances in genetics may lead to targeted treatments for hair disorders.
20 citations
,
September 2018 in “Journal of cutaneous pathology” Different skin diseases show unique patterns of skin cell separation, cell death, and granular layer changes.
3 citations
,
August 2012 in “The American Journal of Dermatopathology” A man with a birthmark on his scalp developed hair loss that improved with treatment, but the link between the birthmark and hair loss was unclear.
November 2020 in “International journal of contemporary pediatrics” Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
May 2017 in “Journal of the American Academy of Dermatology” Monilethrix is a rare, inherited condition causing fragile hair and hair loss, with no cure but some treatments may help.
February 2022 in “International journal of research in dermatology” The document concludes that proper diagnosis and treatment of hair shaft disorders require understanding their unique causes and avoiding hair-damaging practices.
Early diagnosis and lifelong zinc supplementation are crucial for treating acrodermatitis enteropathica effectively.