October 2025 in “Frontiers in Medicine” Zinc supplements improved symptoms in a Uyghur infant with a rare genetic disorder affecting zinc absorption.
41 citations
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July 2018 in “Frontiers in Neurology” Myotonic dystrophy may be classified as a segmental progeroid disorder.
29 citations
,
January 2020 in “Frontiers in endocrinology” Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
1 citations
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October 2025 in “Micromachines” Portable point-of-care testing can improve quick and accurate genetic disorder detection.
June 2023 in “GSC Advanced Research and Reviews” Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.
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.
33 citations
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September 2008 in “Dermatologic therapy” Doctors should know how to diagnose and treat PCOS, which often involves checking for high male hormone levels and using medications to manage symptoms.
September 1998 in “Journal of The European Academy of Dermatology and Venereology” Older people often have untreated genital skin diseases due to embarrassment and lack of medical attention, which can lead to discomfort and even cancer risk.
September 1998 in “Journal of The European Academy of Dermatology and Venereology” Skin fungal infections are more common in older adults due to factors like obesity, poor circulation, reduced mobility, and weakened immune defenses from certain medications.
February 2010 in “Journal of The American Academy of Dermatology” The document concludes that using gadolinium-based contrast agents during MRI can be linked to Nephrogenic Systemic Fibrosis in patients with severe kidney disease.
25 citations
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January 2015 in “World journal of stem cells” Hair follicle stem cells can become different cell types and may help treat neurodegenerative disorders.
8 citations
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September 2016 in “Pediatric dermatology” People with Mucopolysaccharidoses often have skin problems like thick skin and extra hair, and recognizing these can help diagnose and treat the condition early.
291 citations
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January 2014 in “The Scientific World Journal” Lichen Planus is a less common condition affecting skin and mucous membranes, with various types and associated risk factors, challenging to diagnose, significantly impacts life quality, and may have a risk of cancerous changes in oral lesions.
157 citations
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May 2021 in “Endocrine Reviews” Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
3 citations
,
November 2010 in “Rheumatic Diseases Clinics of North America” Pregnancy can cause symptoms similar to rheumatic diseases, making diagnosis difficult, and affects various body systems, requiring careful distinction between normal changes and serious conditions.
1 citations
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May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
1 citations
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January 2015 in “Side effects of drugs annual” The document concludes that various dermatological treatments and drugs can cause skin reactions and side effects.
January 2025 in “Medical Research Archives” Anorexia nervosa causes serious health issues, best treated with a team approach focusing on nutrition.
October 2024 in “Irish Journal of Medical Science (1971 -)” Continuous glucose monitoring and GLP-1 receptor agonists improve diabetes management, but personalized care and education are crucial.
August 2017 in “ARSHI Veterinary Letters” A Shih Tzu with Cushing syndrome developed skin issues and was euthanized after treatment led to neurological problems.
April 2015 in “Journal of Nutritional Therapeutics” Looser dietary restrictions can improve growth and reduce illness in methylmalonic acidemia patients.
147 citations
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January 2003 in “American journal of clinical dermatology” The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
4 citations
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May 2023 in “Cells” Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
November 2020 in “Elsevier eBooks” Antiandrogens and androgen inhibitors like spironolactone, finasteride, and dutasteride can treat hair loss and skin conditions, but they have risks and side effects, including potential harm to pregnant women and risks of cancer and heart issues. Herbal remedies also have antiandrogenic effects but lack safety validation.
April 1981 in “Pediatric research” Copper treatments increase copper in all tissues, but brindled female mice accumulate much more copper in their kidneys without clinical effects, unlike brindled male mice where brain copper deficiency is clinically significant.
18 citations
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March 2020 in “Frontiers in Neuroendocrinology” The enzymes 5α-reductase and 3α/β-hydroxysteroid oxidoreductase help create brain-active substances from progesterone and testosterone, which could be used for treatment, but more research is needed to ensure their safety and effectiveness.
10 citations
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January 2023 in “Molecular and Cellular Biochemistry” Solanum nigrum shows promise for treating COVID-19 and its complications, but more research is needed.
4 citations
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January 2023 in “Marine Drugs” Marine compounds from gorgonians and soft corals show promise for drug development, especially for chronic disorders.
49 citations
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September 2015 in “Psychoneuroendocrinology” 5α-reductase affects dopamine receptors linked to sensorimotor gating, which may help understand disorders like schizophrenia.
40 citations
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November 2021 in “International Journal of Molecular Sciences” Mutant keratins cause inflammation in Epidermolysis Bullosa Simplex, suggesting targeting them could help treat the disorder.