12 citations
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January 2000 in “Journal of cutaneous medicine and surgery” Microorganism overgrowth and hyperkeratosis may trigger immune reactions causing lichen planopilaris.
January 2011 in “Journal of the American Academy of Dermatology” Dr. Conroy's book on Morgellon's disease lacks credible evidence and scientific validity.
August 2024 in “Journal of Dermatology & Cosmetology” Acitretin effectively prevented skin cancer in a patient with late-onset Rothmund-Thomson syndrome.
October 2024 in “Reumatizam” New treatments and understanding of skin lupus are emerging in 2024.
7 citations
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January 2013 in “Ophthalmic plastic and reconstructive surgery” A 79-year-old man was diagnosed with a rare skin condition called nevus comedonicus on his eyelids.
April 2020 in “Journal of the Endocrine Society” A 14-year-old girl with no menstrual period was diagnosed with Swyer Syndrome and treated for a related cancer risk.
1 citations
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April 2025 in “Clinical Cosmetic and Investigational Dermatology” A rare skin lesion in a 64-year-old woman was successfully treated with a laser, showing minimal redness and no return after one month.
December 2024 in “Frontiers in Genetics” EGFR and mTOR inhibitors may help manage Olmsted syndrome symptoms.
3 citations
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May 2019 in “BMJ case reports” A boy with severe immune deficiency and Epstein-Barr virus died from high-grade B-cell lymphoma.
December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
3 citations
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June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
18 citations
,
February 2001 in “Der Hautarzt” A woman with myotonic dystrophy had multiple skin tumors on her scalp, suggesting a genetic link.
September 2011 in “Archives of dermatology” The child was diagnosed with cutaneous leishmaniasis.
55 citations
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April 2008 in “Clinical Genetics” A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.
19 citations
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November 2021 in “Lupus Science & Medicine” Black patients with discoid lupus erythematosus have more severe skin damage and higher chances of dyspigmentation, scalp, and ear involvement.
3 citations
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January 2011 in “Intestinal Research” Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.
79 citations
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June 1991 in “Journal of Medical Genetics” X-linked mental retardation includes various syndromes with both mental and physical abnormalities.
27 citations
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June 2015 in “Journal of Investigative Dermatology” TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.
2 citations
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August 2008 in “Oncotarget” Apoptosis in hair follicles spreads through cell death signals, with stem cells slowing the process.
July 2024 in “Journal Archives of Health” Woolly hair is a rare genetic condition with no effective treatments.
November 2024 in “Rheumatology Advances in Practice” A thorough, team-based approach and clear communication improve outcomes in complex neuropsychiatric lupus cases.
June 2016 in “Journal of Evolution of Medical and Dental Sciences” Young women with lupus often have oral ulcers.
7 citations
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November 2007 in “Annales de Dermatologie et de Vénéréologie” A man was diagnosed with a rare form of lupus after showing unique skin symptoms that responded well to treatment.
August 2016 in “Journal of Investigative Dermatology” Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
November 2012 in “Experimental and Clinical Endocrinology & Diabetes” A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
1 citations
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July 2017 in “PubMed” Two patients with Cronkhite-Canada syndrome achieved remission after treatment.
2 citations
,
September 2021 in “JAAD case reports” A man with a weakened immune system was diagnosed with a rare skin condition called trichodysplasia spinulosa using skin examination techniques.
18 citations
,
January 2016 in “Journal of Clinical Medicine Research” A woman with lupus and severe nerve damage improved with specific treatments.
September 2007 in “The American Journal of Gastroenterology” Recognizing lupus as a cause of severe gut issues is crucial for effective treatment.
3 citations
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January 2011 in “生物医学研究杂志:英文版” A new mutation in the KRT86 gene causes monilethrix in a Han family.