1 citations
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September 2021 in “Biomedical & Pharmacology Journal” Reticulocyte hemoglobin content is the best indicator of iron deficiency in women with diffuse non-scarring hair loss.
October 2023 in “Case reports in dermatological medicine” A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
April 1977 in “Pediatric Research” 8 citations
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August 2018 in “BMJ Case Reports” Pazopanib treatment caused rapid hair color loss, possibly indicating its effectiveness.
Defective protein folding due to a mutation is key in ANE syndrome.
97 citations
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December 2011 in “New England Journal of Medicine” The FDA did not approve certain drugs for prostate cancer prevention due to concerns about their effectiveness and potential risks.
20 citations
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June 2011 in “ISRN Dermatology (Print)” A woman lost most of her hair due to an allergic reaction to a hair dye ingredient.
January 2025 in “JCEM Case Reports” Diagnosing and managing Glucocorticoid Resistance Syndrome is complex due to genetic differences and varied symptoms.
January 2026 in “Zenodo (CERN European Organization for Nuclear Research)” Iron deficiency anemia is common and treated with iron supplements and diet changes.
January 2026 in “Zenodo (CERN European Organization for Nuclear Research)” Iron deficiency anemia is common and treated with iron supplements and diet changes.
3 citations
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June 2002 in “PubMed” Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.
5 citations
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September 2013 in “The Journal of Dermatology” Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
August 2022 in “Frontiers in genetics” A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.
January 2023 in “Endocrine Journal” Treating classic 21-hydroxylase deficiency requires precise glucocorticoid dosing and attention to individual patient needs, with new treatments showing promise.
3 citations
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March 2019 in “European Journal of Dermatology” A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
6 citations
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January 2015 in “Indian Dermatology Online Journal” PEODDN is a rare skin disorder with limited treatment options, best treated with laser therapy.
16 citations
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January 2017 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” Managing frontal fibrosing alopecia and lichen planus pigmentosus is challenging due to resistant hair loss and skin discoloration.
1 citations
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April 2025 in “American Journal of Medical Genetics Part C Seminars in Medical Genetics” Eflornithine improved symptoms in Bachmann–Bupp Syndrome patients.
February 2025 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” Deucravacitinib helped a man regrow hair and improve psoriasis.
October 2025 in “Figshare” Deuruxolitinib improves hair regrowth in alopecia areata but needs more safety research.
2 citations
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January 2014 in “Case Reports in Clinical Medicine” Cronkhite-Canada syndrome is a rare condition causing gut polyps, hair loss, skin changes, and nail issues, often with a poor outlook.
February 2025 in “Cureus” Early diagnosis and treatment of NCCAH can improve symptoms and fertility.
45 citations
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March 1997 in “Journal of Investigative Dermatology”
1 citations
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January 2007 in “The Kitakanto Medical Journal” Effective treatment for UFT overdose includes antibiotics and G-CSF, with bone marrow biopsy and transfusion as backup options.
15 citations
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October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
May 2025 in “The Journal of Rheumatology” Early diagnosis and treatment are crucial for CAPS, and Eculizumab can be effective.
27 citations
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May 2002 in “The Journal of Clinical Endocrinology & Metabolism” Brothers of women with PCOS tend to have higher levels of a hormone called DHEAS, indicating a possible genetic link.
November 2021 in “CRC Press eBooks” Hair color is determined by melanin and can be affected by genetic conditions like albinism.
February 2025 in “Geriatrics and gerontology international/Geriatrics & gerontology international” Genetic testing is recommended for young patients showing signs like cataracts and hair changes to diagnose Werner syndrome early.