13 citations
,
October 2016 in “Journal of Clinical Neuroscience” Thallium poisoning can cause worsening nerve damage and vision loss without typical symptoms.
January 2014 in “Progress of Digestive Endoscopy” Prednisolone improved symptoms in a woman with Cronkhite-Canada syndrome, but regular screenings are needed due to cancer risk.
7 citations
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July 1975 in “Acta dermato-venereologica” A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
November 2022 in “American Journal of Clinical Pathology” TURP specimens should be checked for various tumors, not just common prostate issues.
2 citations
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March 2020 in “Skin” Using cidofovir cream for a rare skin disease can cause skin darkening.
46 citations
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November 2014 in “Journal of Cutaneous Pathology” Recognizing diverse presentations of folliculotropic mycosis fungoides is crucial to avoid diagnostic errors.
May 2019 in “CINECA IRIS Institutial Research Information System (University of Genoa)” MITF+ melanoma patients are more likely to have multiple melanomas and unique skin patterns.
1 citations
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January 2008
16 citations
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May 2013 in “Australasian Journal of Dermatology” Hair loss in Cronkhite-Canada syndrome is reversible by treating the gut issues and doesn't need steroid treatment for the hair itself.
6 citations
,
January 2014 in “American Journal of Medical Case Reports” Early diagnosis, intensive therapy, and careful follow-up are crucial for managing overlapping TTP and SLE.
1 citations
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July 2018 in “Dermatologic Surgery” Different tumor cells in one basal cell carcinoma can cause mixed treatment responses, suggesting personalized treatment is needed.
6 citations
,
May 2000 in “Pediatric Dermatology” KID syndrome should be reclassified as an ectodermal dysplasia.
May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Loss of TET2 increases the risk of skin and oral cancer.
21 citations
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March 2015 in “Neurological Sciences” A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
April 2023 in “The Medical Journal of Australia” A five-year-old girl has a harmless, unchanging bald patch on her scalp.
3 citations
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November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” Ring Chromosome 11 may be linked to conditions like early puberty, excessive hair growth, hair loss, and type 2 diabetes.
July 2023 in “Journal of allergy and clinical Immunology. Global” A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
6 citations
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February 2023 in “Lara D. Veeken” Satoyoshi syndrome is likely an autoimmune disease.
June 2025 in “JCEM Case Reports” False high testosterone levels were corrected using a more accurate test.
Autoimmune Polyendocrine Syndromes involve specific combinations of autoimmune diseases.
4 citations
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August 2023 in “Frontiers in Pediatrics” Most children with MIS-C showed significant improvement by 6 months.
March 2021 in “AACE clinical case reports” A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.
November 2020 in “Journal of The American Academy of Dermatology” Certain immune markers may predict chemotherapy response in mesothelioma, and nivolumab is a tolerable and effective treatment for advanced non-small cell lung cancer.
5 citations
,
September 2023 in “Frontiers in Medicine” Early dermatological referrals are important for women and girls with Turner syndrome to improve life quality.
5 citations
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May 2013 in “The American Journal of Dermatopathology” The author now believes tricholemmal carcinoma is a rare type of infundibular squamous cell carcinoma and more research is needed on these tumors.
May 2012 in “Research and reports in neonatology” The newborn with Klippel-Trénaunay syndrome was healthy but needed regular check-ups for possible complications.
April 2019 in “Journal of the Endocrine Society” Rapid virilization should be checked for possible ovarian or adrenal cancer.
8 citations
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June 2019 in “Orphanet journal of rare diseases” Corticosteroids are the most effective treatment for Satoyoshi syndrome.
October 2025 in “Journal of the Endocrine Society” Rathke’s cleft cysts can rarely cause Cushing disease, and surgery can improve symptoms.
April 2023 in “Journal of Investigative Dermatology” PTEN was identified as a specific marker for the skin disease cutaneous lupus erythematosus, and it helps increase the expression of harmful type I interferons.