95 citations
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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.
24 citations
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November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia” Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.
1 citations
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January 2013 in “Nasza Dermatologia Online” Vitamin B12 deficiency can cause reversible hair color loss in children.
Early diagnosis and treatment of hereditary vitamin D-resistant rickets (HVDRR) are crucial to prevent growth issues and other health problems.
September 2025 in “Annals of Plastic Surgery” Inverted follicular keratosis on the eyelid can be cured with surgery and has a great prognosis.
March 2024 in “Skin research and technology” High CRP levels could indicate vitamin D deficiency in people with alopecia areata.
June 2018 in “Journal of the American Veterinary Medical Association” Three related Persian cats have a rare, likely hereditary skin condition causing hair loss and poor coat quality, with limited treatment options.
1 citations
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May 2013 in “Hair transplant forum international” Non-classical 21 hydroxylase deficiency is an underdiagnosed cause of female hair loss and polycystic ovarian syndrome.
6 citations
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August 2022 in “Dermatologic therapy” PRP therapy can temporarily grow hair in CCCA patients but isn't a permanent cure.
110 citations
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November 1984 in “The American Journal of Medicine” A genetic defect in vitamin D receptors causes severe rickets and hair loss in children, but some heal as they age.
80 citations
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March 2004 in “Neuropediatrics” Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
4 citations
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April 2019 in “Gynecological Endocrinology” Certain gene variations are found in people with polycystic ovary syndrome.
April 2024 in “Research Square (Research Square)” A 27-year-old with APS-1 showed improvement in symptoms after treatment.
May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” BIVV009 is a safe treatment for bullous pemphigoid that reduces C3 deposition without harmful side effects.
57 citations
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August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
6 citations
,
July 2011 in “British Journal of Dermatology” A man with KID syndrome developed a rare cancer in a long-term skin infection.
15 citations
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June 2004 in “International Journal of Dermatology” Most kidney transplant patients in the study had skin problems, often related to infections, medication side effects, or skin cancer risks.
32 citations
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January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
June 2024 in “Indian Journal of Veterinary Medicine” The young goat had anaplasmosis and copper deficiency.
3 citations
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December 2022 in “The Neurologist” CARASIL, a rare genetic disorder, was confirmed in an Arabic woman, highlighting its rarity and need for stroke prevention.
3 citations
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July 2004 in “SKINmed/Skinmed” A 4-year-old girl was diagnosed with erythrokeratodermia variabilis after other treatments failed.
29 citations
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September 1942 in “Archives of ophthalmology” Vogt-Koyanagi syndrome often leads to partial or complete blindness and responds poorly to treatment.
February 2010 in “Journal of The American Academy of Dermatology” A woman with CHILD syndrome showed skin abnormalities, and the report suggests CHILD nevus and NEVIL might be the same condition, highlighting the need for diagnosis for genetic advice.
55 citations
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July 1983 in “Journal of the American Academy of Dermatology” Biotin supplements can effectively treat hair loss and skin issues in certain enzyme deficiencies.
27 citations
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September 2014 in “JAMA dermatology” Female donor to male recipient sex mismatch and positive ACA-IgG are key risk factors for vitiligo and alopecia areata in chronic GvHD patients.
6 citations
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April 2012 in “PubMed” Enteral supplements can improve symptoms of Cronkhite-Canada syndrome.
12 citations
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December 2016 in “The FASEB Journal” Lack of vitamin D receptor causes hair loss in mice by allowing certain genes to overactivate.
3 citations
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January 2023 in “American journal of physiology. Cell physiology” Inward rectifier potassium channels are important in many body functions and diseases, and could be potential drug targets.
August 2019 in “Wiedza Medyczna” Kerion is a severe scalp infection that needs quick treatment to avoid permanent hair loss in children.
August 2018 in “Journal of The American Academy of Dermatology” A 5-year-old girl with a rare skin disorder was effectively treated with skin creams instead of oral medication.