48 citations
,
June 2000 in “Japanese Journal of Cancer Research” Dimethylarsinic acid speeds up skin tumor growth in certain mice.
March 2016 in “The Journal of Urology” The discovery of 5α-reductase deficiency in guevedoces led to the development of important urologic medications.
November 2024 in “NeoReviews” An extremely low-birthweight infant had a rare genetic skin disease and died despite treatment.
175 citations
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August 1997 in “Nature Genetics” 3 citations
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May 2024 in “Skin Appendage Disorders” Trichoscopy helps diagnose and understand Discoid Lupus Erythematosus on the scalp by identifying specific patterns.
34 citations
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February 2012 in “International Journal of Dermatology” Dermatoscopy can help identify hydroquinone-induced skin issues, avoiding invasive biopsies.
30 citations
,
August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
1 citations
,
June 2021 in “Cureus” A girl with hereditary chorea, likely Huntington's disease, had her condition worsened by lupus.
219 citations
,
January 2006 in “Drug Metabolism Reviews” DHEA affects multiple receptors and may help with metabolic issues, but its safety and effectiveness in humans are unclear.
November 2025 in “Journal of Investigative Dermatology” KLHL24-mutant stem cells help understand skin and heart disease.
January 2024 in “Brazilian Journal of Veterinary Pathology” The horse had a rare disease causing weight loss and skin issues, leading to euthanasia due to poor treatment options.
January 2015 in “Turkiye Klinikleri Journal of Endocrinology” PCOS patients with autoimmune thyroid disease have lower DHEAS levels.
21 citations
,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
53 citations
,
May 1996 in “The Journal of Clinical Endocrinology & Metabolism” Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
2 citations
,
January 2004 in “Linchuang pifuke zazhi” ZD1839 can cause skin issues like acne and hair changes.
October 2024 in “Journal of the Endocrine Society” Rare ovarian tumors can cause hyperandrogenism, even if imaging appears normal.
December 2014 in “Endocrinología y nutrición” The woman's rare combination of diseases suggests an unknown factor may predispose individuals to multiple endocrine diseases.
6 citations
,
May 2013 in “PloS one” The Foxn1(-/-) nude mouse shows disrupted and expanded skin stem cell areas due to high Lhx2 levels.
July 2025 in “Journal of Investigative Dermatology”
April 2017 in “Journal of Investigative Dermatology” Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
March 2005 in “Journal of The American Academy of Dermatology” Diphencyprone treatment protocols could be simplified as no harm occurred despite not fully following them.
199 citations
,
April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
September 2023 in “Journal of the American Academy of Dermatology” April 2025 in “Indian Journal of Paediatric Dermatology” Zinc supplements improved the girl's skin and hair condition.
1 citations
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May 2023 in “Frontiers in Pharmacology” Genetic screening for NUDT15 polymorphisms is crucial for patients taking azathioprine, especially in Asians.
January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.
14 citations
,
May 2017 in “Journal of Investigative Dermatology” A rare gene mutation causes skin fragility and itching without affecting hair or nails.
39 citations
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January 2016 in “PubMed” Understanding how EDC genes are regulated can help develop better drugs for skin diseases.
30 citations
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June 2013 in “Optometry and vision science” Following a specific clinical sequence can help diagnose and treat Demodex mites in the eyes.
May 2018 in “The journal of immunology/The Journal of immunology” Mutations in the FOXN1 gene cause severe immune issues but don't affect hair and nails.