A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
12 citations
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November 2014 in “Journal of Cutaneous Medicine and Surgery” Antiviral medication valganciclovir may improve skin and hair in Trichodysplasia Spinulosa patients.
5 citations
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January 2017 in “Arquivos Brasileiros de Oftalmologia” A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
15 citations
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April 2022 in “Ginekologia Polska” Higher thyroid hormone levels may be linked to certain types of polycystic ovary syndrome.
39 citations
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September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
March 1999 in “Annals of the Academy of Medicine Singapore” Trichotillomania is a chronic condition where people uncontrollably pull out their hair, often needing medication and therapy for treatment.
September 2025 in “BioMed” Improved oral hygiene and dietary changes can help manage black hairy tongue syndrome.
A patient with patchy hair loss was successfully treated for Tumid Lupus Erythematosus after other treatments failed.
6 citations
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January 2015 in “International Journal of Pediatrics and Adolescent Medicine” Hair removal cream effectively and painlessly treated infants with hair tourniquet syndrome.
January 2000 in “The Mouseion at the JAXlibrary (Jackson Laboratory)” The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.
36 citations
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July 2014 in “Neuromuscular Disorders” A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
6 citations
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February 2004 in “Clinical and Experimental Ophthalmology” The document concludes that careful diagnosis is crucial for chromosome 13q deletion syndrome, tamoxifen can cause reversible eye damage, finasteride may be linked to cataracts, and OCT is useful for diagnosing macular diseases.
September 2023 in “Journal of the American Academy of Dermatology” Dermatologists should consider alpha-gal syndrome in patients with unexplained chronic skin issues.
January 2022 in “Consultant” The man's occipital hair loss was due to temporal triangular alopecia, not alopecia areata.
4 citations
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October 2023 in “Children” Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.
October 2025 in “Clinical and Experimental Pediatrics” A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
1 citations
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June 2022 in “Curēus” Early detection and multidisciplinary treatment are crucial for managing Papillon-Lefévre syndrome.
1 citations
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January 2025 in “Therapeutic Advances in Drug Safety” Antituberculosis drugs can cause severe skin reactions, requiring careful diagnosis and treatment.
March 2022 in “Evidence-based Complementary and Alternative Medicine” Patients with deficiency syndrome, especially qi deficiency, have a higher risk of type 2 heart attacks.
5 citations
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May 2015 in “JRSM open” If a child is losing a lot of eyelashes and it keeps happening, doctors should look carefully at their health history because it might be a sign of a different health problem.
11 citations
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January 2013 in “International Journal of Trichology” Short Anagen Syndrome causes persistently short hair and increased shedding, usually improving after puberty.
20 citations
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June 2019 in “JAAD Case Reports” Tofacitinib can cause skin eruptions similar to palmoplantar pustulosis.
SH-SY5Y cell lysate is effective for diagnosing Satoyoshi syndrome.
January 2026 in “JCEM Case Reports” Genetics may play a significant role in gender dysphoria.
20 citations
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April 2014 in “Autoimmunity” A specific gene variant (rs4833095) is linked to a higher risk of alopecia areata in Koreans.
2 citations
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January 2021 in “American Journal of Case Reports” A 13-year-old boy with a rare genetic condition survived a heart attack and improved with treatment.
1 citations
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December 2013 in “BMJ case reports” A pregnant woman with Werner's syndrome died during childbirth, but her baby survived and did not have the syndrome.
6 citations
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October 2001 in “British Journal of Ophthalmology” Intralesional cidofovir may be a viable treatment for conjunctival lesions in Melkersson-Rosenthal syndrome without systemic toxicity.
October 2024 in “Frontiers in Oncology” A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
May 2026 in “Journal of Neurosciences in Rural Practice” Tofacitinib may cause nerve damage in the brain, so monitor for neurological symptoms.