30 citations
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August 1984 in “Journal of the American Academy of Dermatology” Low-sulfur hair syndrome can cause UVB sensitivity and testicular failure.
2 citations
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December 2023 in “Mediterranean Journal of Rheumatology” Late onset SLE has different symptoms and antibody profiles compared to young onset SLE.
August 2023 in “Gastroenterology” A 78-year-old man with Cronkhite-Canada syndrome improved significantly after treatment and remains symptom-free.
3 citations
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January 2011 in “Intestinal Research” Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.
January 2025 in “JCEM Case Reports” Diagnosing and managing Glucocorticoid Resistance Syndrome is complex due to genetic differences and varied symptoms.
May 2025 in “The Journal of Rheumatology” The project highlights the importance of early diagnosis and patient advocacy in managing Systemic Lupus Erythematosus.
October 2023 in “The American Journal of Gastroenterology” Cronkhite-Canada syndrome is rare, with high mortality and cancer risk, needing more research for treatment guidelines.
July 2024 in “Journal of Rare Diseases” Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
5 citations
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January 2016 in “European Journal of Dermatology” Suplatast tosilate successfully treated a woman's systemic sclerosis symptoms.
December 2021 in “Journal of Rheumatic Diseases” Early treatment of pediatric lupus-related eye issues is crucial to prevent vision loss.
18 citations
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December 2006 in “Clinical dysmorphology” A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
Different connective tissue disorders have unique symptoms and treatments, with varying outcomes and often require ongoing care from a specialist.
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November 2021 in “JAAD Case Reports” Mogamulizumab can cause hair loss and skin rashes.
July 2024 in “Indonesian Journal of Case Reports” Effective treatment improved skin and overall symptoms in a lupus patient.
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November 2015 in “International Journal of Dermatology”
February 2024 in “Rheumatology & autoimmunity” Lupus can cause unusual vision problems, so it's important to consider it in such cases.
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April 2012 in “The American journal of pathology” Loss of Msx2 function causes eye development issues similar to Peters anomaly.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Scurvy still occurs today and can be diagnosed by symptoms like gum bleeding and a specific rash, confirmed by low vitamin C levels.
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June 1986 in “The Journal of Dermatology” Reticular erythematous mucinosis syndrome can occur with minimal mucin deposition.
37 citations
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January 1979 in “Archives of Dermatology” PUVA treatment may have triggered lupus in a woman with psoriasis.
Skin symptoms in lupus help diagnose and manage the disease early.
115 citations
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October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
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August 2020 in “Gastroenterology report” There is no standard treatment for the rare Cronkhite–Canada syndrome, which can be fatal and lead to cancer.
1 citations
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August 2021 in “Canadian journal of neurological sciences” Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
September 2006 in “Pediatrics in Review” Early diagnosis and treatment are crucial for complex medical conditions.
April 2024 in “African Journal of Biological Sciences” The treatment led to significant hair regrowth in a lupus patient.
July 2024 in “Journal of Investigative Dermatology” Spontaneous keloids may be linked to nephrogenic systemic fibrosis in dialysis patients.
59 citations
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November 2002 in “Pediatric Dermatology” A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.
February 2010 in “Journal of The American Academy of Dermatology” A woman with Degos disease managed her condition for nine years with medications and had two healthy pregnancies, while a separate finding suggests a possible link between female pattern hair loss and high blood pressure.
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.