Patients with acute and subacute skin lupus respond faster to belimumab than those with chronic skin lupus.
14 citations
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October 2016 in “Physiological Research” Alfacalcidiol and metformin together lowered testosterone in women with PCOS, but did not significantly improve acne, hair growth, or pregnancy rates.
197 citations
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June 2009 in “American journal of human genetics” WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
28 citations
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April 2013 in “Fertility and Sterility” Caucasian and Asian women with PCOS generally show similar symptoms, except Asian women have less chest hair.
52 citations
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November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
28 citations
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February 2010 in “British journal of dermatology/British journal of dermatology, Supplement” WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
14 citations
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January 2025 in “Reproductive Medicine and Biology” PCOS diagnosis and treatment should consider race and ethnicity for accuracy.
3 citations
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January 1992 in “Clinical Pediatric Endocrinology” Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
January 2024 in “Biomedicines” The review shows that skin symptoms like chronic fungal infections, hair loss, and skin depigmentation are key for early detection and management of APECED.
PCOS phenotypes A and B are more common and linked to higher health risks in women from the Ecuadorian Andes.
98 citations
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March 2019 in “Frontiers in immunology” Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
May 2025 in “Clinical Medicine Insights Case Reports” Kindler Syndrome shows diverse symptoms and needs better diagnostic tools and care in resource-limited areas.
January 2024 in “Pediatric rheumatology online journal” Early genetic testing and JAK inhibitors can help treat systemic inflammation in SAVI patients.
July 2024 in “Journal of Rare Diseases” Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
2 citations
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June 2017 in “Journal of The American Academy of Dermatology” The type of PCOS a woman has doesn't strongly predict her skin or metabolic symptoms; obesity is a more important factor.
January 2025 in “International Journal of Forest Animal and Fisheries Research” DHEA may play a complex role in PCOS, affecting hormones, metabolism, and symptoms.
Long COVID symptoms are common and the new method will help test if remdesivir reduces them.
14 citations
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May 2017 in “Journal of Investigative Dermatology” A rare gene mutation causes skin fragility and itching without affecting hair or nails.
62 citations
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October 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
1 citations
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April 2018 in “Rheumatology” Many lupus patients experience hair loss, which is linked to anxiety and other skin issues.
49 citations
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January 2013 in “Dermatologic Therapy” Newborns with ichthyosis need specific care based on their skin type.
33 citations
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May 2015 in “JAMA Dermatology” Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.
11 citations
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July 2014 in “Gene” The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
November 2025 in “Reumatismo” The choice between belimumab and anifrolumab depends on the specific symptoms of the patient's lupus.
November 2025 in “DOAJ (DOAJ: Directory of Open Access Journals)” The choice between belimumab and anifrolumab for treating lupus depends on the patient's specific symptoms.
68 citations
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August 2009 in “American Journal of Medical Genetics Part A” A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
11 citations
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January 2020 in “BMC pediatrics” New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
5 citations
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February 2022 in “Molecular genetics & genomic medicine” New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
87 citations
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March 2014 in “Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids” Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
7 citations
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January 2008 in “Indian Journal of Dermatology” Pigmentary mosaicism causes skin color changes and can affect multiple body systems, but has no cure.