February 2018 in “Egyptian Journal of Radiation Sciences and Applications” Patients with Discoid Lupus Erythematosus have lower vitamin D and antioxidant levels and higher oxidative stress.
June 2023 in “Zenodo (CERN European Organization for Nuclear Research)” Hutchinson-Gilford Progeria Syndrome causes rapid aging due to a gene mutation, with no cure yet, but research may lead to better treatments.
1 citations
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October 2022 in “JCI insight” Deleting the BRD4 protein in certain skin cells causes hair loss and skin inflammation.
14 citations
,
December 1998 in “British Journal of Cancer” Truncated hHb1 keratin may play a role in breast cancer cell transformation.
1 citations
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February 2022 in “Case reports in endocrinology” An unusual growth of Leydig cells in a woman's ovaries caused her excessive hair growth, which was treated successfully with surgery.
August 2022 in “IntechOpen eBooks” Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
April 2023 in “Zenodo (CERN European Organization for Nuclear Research)” Frequent blood transfusions in beta thalassemia patients can lead to thyroid problems.
1 citations
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June 2021 in “Cureus” A girl with hereditary chorea, likely Huntington's disease, had her condition worsened by lupus.
Hepatitis B vaccination can trigger HSP, and vitamin D correction and tonsillectomy can effectively manage it.
May 2021 in “Biomedical Journal of Indonesia” Lupus hepatitis can affect male SLE patients and is treatable with specific medications.
28 citations
,
August 2003 in “Steroids” Hirsute women have lower type 2 17β-HSD enzyme levels, which improve with treatment.
177 citations
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December 2002 in “The Lancet” Fibrinogen/LDL apheresis may improve speech perception in sudden hearing loss, especially for those with high fibrinogen and LDL levels.
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.
2 citations
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April 2008 in “PubMed” A gene mutation causes monilethrix in a Chinese family.
2 citations
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January 1975 in “Archives of Dermatological Research” Certain enzymes react strongly with some hormones in rat skin during hair growth, mainly in sebaceous glands and hair sheaths.
June 2023 in “International Journal of Research in Medical Sciences” Two brothers from Bangladesh were diagnosed with X-linked adrenoleukodystrophy, showing neurological and adrenal symptoms.
29 citations
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January 2003 in “KARGER eBooks” HVDRR is caused by VDR gene mutations, leading to vitamin D resistance, treatable with high calcium doses, but alopecia remains permanent.
85 citations
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March 2008 in “Journal of Cell Science” The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
April 2019 in “Journal of the Endocrine Society” Bilateral ovarian hyperthecosis is a rare but treatable cause of increased facial hair in postmenopausal women.
7 citations
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March 2015 in “British Journal of Dermatology” Applying minoxidil can help improve hair growth in people with hair loss caused by LIPH gene mutations.
April 2025 in “Journal of Investigative Dermatology” High LH levels cause hair loss by damaging and aging hair follicles.
74 citations
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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.
January 2017 in “Open Journal of Endocrine and Metabolic Diseases” The document concludes that managing Dunnigan-Type Familial Partial Lipodystrophy involves treating associated health issues and using medications like metformin and leptin replacement.
11 citations
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September 2010 in “American Journal of Medical Genetics - Part A” A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
1 citations
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January 2021 in “Journal of biological chemistry/The Journal of biological chemistry” FLCN helps control iron levels in cells.
7 citations
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February 2012 in “Journal of cutaneous pathology” The document describes previously unreported unique skin changes in a rare genetic disorder called Hereditary mucoepithelial dysplasia.
December 2023 in “Journal of General Procedural Dermatology and Venereology Indonesia” A 61-year-old Filipino man had a skin condition that looked like another disease, making diagnosis difficult.
68 citations
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December 1983 in “British Journal of Dermatology” Major histocompatibility antigens are found in specific skin cells and structures, but not in sweat glands.
July 2024 in “Journal of Investigative Dermatology” Modulating the BTNL2 pathway can prevent hair loss in mice.
7 citations
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June 2009 in “Journal of the European Academy of Dermatology and Venereology” Basement membrane changes in lichen planopilaris cause scarring and permanent hair loss.