5 citations
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September 2020 in “Proceedings - Baylor University. Medical Center” Tofacitinib successfully treated a woman's severe symptoms from a rare autoimmune condition.
1 citations
,
January 2018 in “Jornal Brasileiro de Patologia e Medicina Laboratorial” Monilethrix causes brittle hair and hair loss, and it runs in families.
July 2024 in “Journal of the ASEAN Federation of Endocrine Societies” In post-menopausal women, signs of increased male hormones should be checked for possible ovarian cancer.
June 2022 in “Annals of Indian Academy of Neurology” A woman's shingles infection triggered her first episode of a rare neurological disorder and blood vessel inflammation.
January 2024 in “Rheumatology quarterly” Skin changes are key for early diagnosis and treatment of rheumatic diseases.
April 2017 in “Medicina Clínica (english Edition)” A woman with a rare form of multiple myeloma had a headache and a skull mass, which led to her diagnosis after tests and a biopsy.
April 2025 in “Experimental Eye Research” The Oat mouse model shows mild retinal degeneration, useful for testing treatments.
10 citations
,
June 2011 in “Movement Disorders” THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
June 2024 in “Neuromuscular Disorders” Baricitinib successfully treated myasthenia gravis and alopecia in a patient.
17 citations
,
September 2000 in “Journal of dermatology” A baby with a rare metabolic disorder developed a rash not cured by zinc alone, likely due to both zinc and amino acid deficiencies.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Not having enough cystatin M/E protein causes less hair growth and dry skin.
June 2019 in “Journal of Hypertension” Magnesium deficiency raises diastolic blood pressure and reduces vascular contraction.
January 2024 in “JAAD case reports” MSUD patients need careful monitoring of amino acids and zinc to prevent severe symptoms.
3 citations
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March 2021 in “Indian Journal of Rheumatology” Remote monitoring of chronic diseases like dermatomyositis is challenging and needs better tools for early detection and patient education.
January 2011 in “Journal of Human Genetics” A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
4 citations
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July 1994 in “Clinics in Dermatology” Eosinophilia-myalgia syndrome, linked to contaminated L-tryptophan supplements, caused severe symptoms and some deaths, with long-term effects in survivors.
6 citations
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February 2023 in “Lara D. Veeken” Satoyoshi syndrome is likely an autoimmune disease.
1 citations
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January 2022 in “Annals of Dermatology” A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
January 2000 in “Linchuang pifuke zazhi” The man had pretibial myxedema and hyperthyroidism, causing skin changes and thyroid issues.
31 citations
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June 2011 in “Movement Disorders” The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
33 citations
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January 2007 in “Pediatric dermatology” Hair thinning and loss in a girl with a rare metabolic disorder was linked to her condition.
80 citations
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December 1996 in “Pain” Disruption of glycinergic circuits increases pain sensitivity, suggesting new pain treatment options.
6 citations
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May 2019 in “JAMA Facial Plastic Surgery” Removing certain muscles during a browlift reduces glabellar wrinkles better long-term.
2 citations
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March 2015 in “Dermatologic Therapy” Using too much minoxidil foam can cause a rare movement disorder with facial twitching, but symptoms go away when the correct dose is used.
33 citations
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December 1982 in “Developmental Medicine & Child Neurology” Hair-shaft abnormalities can indicate neurological disorders, some of which are treatable.
5 citations
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September 1986 in “Pediatric Dermatology” A family showed a new condition with inherited hair loss and skin changes, possibly due to one genetic disorder.
211 citations
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May 2013 in “Journal of Nutrition Health & Aging” MK-0773 safely increased muscle mass but did not improve muscle strength or function in elderly women with sarcopenia.
13 citations
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July 2004 in “Pediatric dermatology” A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
20 citations
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September 2005 in “Clinics in Dermatology” Some skin problems can be signs of diabetes or other metabolic diseases and recognizing them can help diagnose and treat these diseases early.
35 citations
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August 2010 in “The American journal of pathology” Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.