July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
December 2024 in “Chemical Senses” Taste disorders in Cronkhite-Canada syndrome are severe in the front of the tongue but improve with treatment.
9 citations
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September 2024 in “Journal of Clinical Medicine” Hidradenitis suppurativa is linked to autoinflammation and immune system issues.
6 citations
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February 2023 in “Lara D. Veeken” Satoyoshi syndrome is likely an autoimmune disease.
5 citations
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January 1970 in “Journal of Nepal Paediatric Society” Hair loss can be a key sign of a rare type of rickets when vitamin D treatment doesn't work and advanced tests aren't available.
9 citations
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January 2023 in “Dermatology and therapy” A 14-year-old girl with severe hair loss regrew her hair using upadacitinib.
January 2024 in “Australasian journal of dermatology (Print)” A boy's hair turned red because of genetic mutations, not lack of zinc.
October 2024 in “Medicine” Cronkhite-Canada syndrome is rare, has a poor prognosis, and requires early diagnosis and ongoing treatment.
January 2024 in “Journal of Crohn's and colitis” Janus Kinase inhibitors are effective and have an acceptable safety profile for treating moderate to severe Ulcerative Colitis.
November 2019 in “European journal of internal medicine” A Laotian man with unusual skin changes and multiple growths in his gut was diagnosed with Cronkhite-Canada Syndrome and improved with nutritional and immune-based treatments.
June 2024 in “Current Developments in Nutrition” KeraGLO improves skin and hair health.
81 citations
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November 2012 in “Journal of the National Cancer Institute” The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
10 citations
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July 2015 in “Current opinion in pediatrics, with evaluated MEDLINE/Current opinion in pediatrics” New genes linked to ichthyosis were found, but there's still no cure; treatment options are improving.
Defective nuclear transport may cause gene expression changes in Progeria.
7 citations
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February 2019 in “Veterinary medicine and science” An American Bully with a genetic skin condition improved significantly with specific topical treatments.
August 2016 in “Journal of Investigative Dermatology” Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
4 citations
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February 2021 in “Plant journal” OsUEV1B protein is essential for controlling phosphate levels in rice.
53 citations
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October 1978 in “Archives of dermatology” Zinc supplements can resolve skin issues caused by zinc deficiency.
February 2023 in “Journal of dermatology” The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
1 citations
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July 1991 in “PubMed” MRI can show unusual brain changes in adrenomyeloneuropathy.
October 2024 in “Clinical Chemistry” The girl's motor issues were due to scurvy from a lack of vitamin C, which improved with supplements.
January 2024 in “Clinical, cosmetic and investigational dermatology” A child with a rare vitamin D-resistant condition improved with treatment.
October 2015 in “The American Journal of Gastroenterology” Allopurinol may cause rare granulomatous microscopic colitis.
4 citations
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October 2024 in “Journal of the American Academy of Dermatology” Abrocitinib may help treat alopecia areata effectively with mild side effects.
Matriptase-2 helps control iron levels by suppressing hepcidin, and its deficiency can cause iron-deficiency anemia.
December 2023 in “PubMed” Metformin and liraglutide improved symptoms of HAIR-AN syndrome in a child.
2 citations
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December 1988 in “PubMed” C.I. Acid Orange 3 caused cancer in female rats but not in male rats or mice.
September 2025 in “JCEM Case Reports” Consider rare forms of CAH for accurate diagnosis and treatment.
December 2022 in “European journal of internal medicine” Hair straightening treatments can cause serious kidney damage, especially if you have skin issues.
36 citations
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July 2014 in “Neuromuscular Disorders” A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.