July 2025 in “Journal of Investigative Dermatology” Three molecular subtypes of advanced skin T-cell lymphoma were identified, with potential biomarkers for predicting treatment response and disease progression.
148 citations
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May 2012 in “The American Journal of Human Genetics” Cantú syndrome is caused by mutations in the ABCC9 gene.
Enhanced stem cells from the placenta can reduce fat cell formation in eye disease.
April 2023 in “Journal of Investigative Dermatology” Targeting mTOR in myeloid cells may help reduce psoriasis symptoms.
March 2020 in “International journal of contemporary medical research” Patients with metabolic syndrome often have skin problems like acanthosis nigricans and skin tags, and early treatment is important to prevent serious issues.
January 2025 in “Pakistan Veterinary Journal” A cat had a rare, aggressive pancreatic cancer that spread quickly and led to its death.
13 citations
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June 2012 in “European journal of medical genetics” Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.
November 2024 in “Global Journal of Human-Social Science” Most people with metabolic syndrome in Brazil have skin issues, especially if they are morbidly obese.
17 citations
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July 2024 in “Frontiers in Oncology” New therapies and trials are needed for Merkel cell carcinoma, a tough skin cancer.
October 2009 in “The American Journal of Gastroenterology” Isolated amylase deficiency can cause failure to thrive and should be checked with specific tests.
March 2024 in “Indian Journal of Dermatology” The man was diagnosed with Cronkhite-Canada syndrome, a rare disorder with GI polyps, skin issues, hair loss, and nail problems.
11 citations
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January 2009 in “World Journal of Gastroenterology” A woman with both Cronkhite-Canada syndrome and myelodysplastic syndrome improved significantly with corticosteroid treatment.
14 citations
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October 1977 in “The Lancet”
October 2025 in “JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH” Waldenstrom’s Macroglobulinaemia can mimic multiple myeloma, so accurate diagnosis is crucial.
January 2026 in “Cosmoderma” A 9-year-old girl has a rare hair disorder causing beaded, sparse hair.
August 2025 in “International Journal of Contemporary Pediatrics” HLD10 can include increased body hair and Mongolian spots.
21 citations
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September 1990 in “Journal of The American Academy of Dermatology” Taking L-tryptophan supplements might cause a condition similar to scleroderma in some people, which can get better after stopping the supplement and starting corticosteroid therapy.
5 citations
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August 2020 in “Stem Cell Research & Therapy” Using fat-derived stem cells with the drug meglumine antimoniate can help control skin disease and reduce parasites in mice with leishmaniasis.
12 citations
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March 2010 in “Revista iberoamericana de micología” The cat died from a hard-to-treat fungal infection despite various treatments.
A 69-year-old smoker was wrongly diagnosed with lung cancer but actually had a rare lymphatic system disorder.
16 citations
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June 1992 in “PubMed” Steroid pulse therapy improved symptoms in a man with Satoyoshi syndrome.
January 2025 in “JCEM Case Reports” Metyrapone can effectively treat Cushing's Disease even if the mass causing it is not found.
14 citations
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February 2007 in “Irish Veterinary Journal” A dog with a pituitary tumor developed tertiary hypothyroidism, improved with treatment, but was later euthanized due to neurological issues.
4 citations
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December 2014 in “Indian Journal of Dermatology” A rare skin condition with cysts was found on a 5-year-old boy's scalp.
22 citations
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September 2014 in “JAMA dermatology” Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
Defective nuclear transport may cause gene expression changes in Progeria.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
December 2024 in “Skin Appendage Disorders” Accurate diagnosis and treatment improved symptoms in a patient with alopecia linked to mycosis fungoides.
3 citations
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October 2021 in “Turkish Journal Of Neurology” Genetic analysis is crucial for diagnosing and managing cerebral arteriopathy.
January 2019 in “International Journal of Clinical & Medical Images” The patient showed signs of liver disease due to alcohol use but didn't need treatment for Dupuytren’s contracture.