October 2011 in “Journal of dermatology” A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
5 citations
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April 1984 in “Archives of Dermatology” Porphyria cutanea tarda causes skin issues due to an enzyme deficiency.
15 citations
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January 2010 in “Experimental Dermatology” Hair loss in certain young mice is linked to a specific gene and can be caused by lack of iron.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
72 citations
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October 1988 in “Archives of Disease in Childhood” Biotin treatment improves symptoms of biotinidase deficiency, but some neurological damage may be permanent.
1 citations
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October 2022 in “Molecular therapy” The FDA approved the first gene therapy for a blood disorder after overcoming early challenges and demonstrating patient benefits.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
February 2025 in “American Journal of Biomedical Science & Research” A rare combination of hair loss and excessive fine hair growth was found in celiac disease patients.
November 2023 in “Journal of Investigative Dermatology” The study identified key immune cell differences between mild and severe alopecia areata.
165 citations
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September 2001 in “Genes & development” CDP is crucial for lung and hair follicle cell development.
5 citations
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September 1989 in “Journal of The American Academy of Dermatology” Talc in street cocaine can cause immune-reactive skin nodules where injected.
September 2025 in “Acta Dermato Venereologica” Baricitinib can help improve hair loss and skin color issues in people with Down syndrome.
May 2021 in “Medicina internă” High-dose corticosteroid treatment helped improve symptoms in a patient with Adult Onset Still Disease.
10 citations
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November 1946 in “Journal of the American Medical Association” Severe vitamin deficiencies in children can cause significant hair problems.
19 citations
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September 2010 in “The American journal of pathology” High glucocorticoids cause pancreatic malfunction and malabsorption, reversible with enzyme supplements.
1 citations
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May 2026 in “Nature Communications” CD19-CAR T cell therapy may help regenerate skin in systemic sclerosis.
2 citations
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September 2014 in “Journal of evolution of medical and dental sciences” Most HIV patients in the study showed skin and mucous membrane issues, with oral thrush being the most common.
November 2009 in “Journal of Pediatric Nursing” Nonclassic congenital adrenal hyperplasia is a common genetic disorder that can cause a range of symptoms and requires personalized treatment.
2 citations
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December 2010 in “Zhonghua neifenmi daixie zazhi” AHST shows promise for treating type 1 diabetes but needs more research before widespread use.
64 citations
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July 2016 in “Journal of Immunology” Blocking the CXCR3 receptor reduces T cell accumulation in the skin and prevents hair loss in mice.
18 citations
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August 2024 in “eLife” JAK inhibition may help manage autoimmune conditions in Down syndrome.
98 citations
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July 1983 in “Journal of Steroid Biochemistry” Individuals with this condition often develop male traits and identities at puberty despite being raised as females.
7 citations
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August 2021 in “Open Access Macedonian Journal of Medical Sciences” The VDR gene polymorphism does not affect BDNF levels in autoimmune thyroiditis and hypothyroidism patients.
47 citations
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April 2000 in “Experimental Dermatology” A new gene mutation causes a rare type of hair loss.
High CCL11 levels may indicate poor response to baricitinib in severe alopecia areata.
18 citations
,
January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
21 citations
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December 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” T-cells in alopecia areata scalp show abnormal regulation, leading to less inflammation.
2 citations
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March 2015 in “Hepatitis Monthly” A woman's hair loss during Hepatitis C treatment with PEG-INF-a-2a and Ribavirin was reversible after stopping the medication.
December 2023 in “Journal of Investigative Dermatology” A specific type of immune cell plays a key role in causing alopecia areata and could be a target for treatment.
9 citations
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February 2002 in “International Journal of Dermatology” The patient's symptoms improved with treatment but recurred when the steroid dose was reduced, requiring ongoing therapy.