2 citations
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January 2021 in “American Journal of Case Reports” A 13-year-old boy with a rare genetic condition survived a heart attack and improved with treatment.
January 2014 in “International Journal of Case Reports and Images” A woman with undifferentiated connective tissue disease was diagnosed with renal amyloidosis and carpal tunnel syndrome.
1 citations
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July 2004 in “The Journal of Dermatology” Generalized hair follicle hamartoma can occur with systemic lupus erythematosus.
5 citations
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February 2015 in “Dermatologic Surgery” Two cases of a rare skin condition were successfully treated with laser therapy, offering a non-surgical treatment option.
January 2012 in “Modern Plastic Surgery” Toe Tourniquet Syndrome is often misdiagnosed.
52 citations
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June 1991 in “Journal of Virology” The hamster polyomavirus middle T antigen is linked to tumors in hamsters and associates with a specific tyrosine kinase.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
January 2024 in “Genetics in Medicine Open” Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
3 citations
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April 2019 in “Journal of the Endocrine Society” Satoyoshi syndrome can occur without causing premature ovarian failure.
September 2025 in “Indian Journal of Child Health” Satoyoshi Syndrome is hard to diagnose and treat due to its rarity and complex symptoms.
9 citations
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January 2014 in “Molecular Genetics and Metabolism Reports” The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
May 2025 in “The Journal of Rheumatology” Early recognition and a team approach are crucial for managing diffuse alveolar hemorrhage in antiphospholipid syndrome.
October 2022 in “The American journal of gastroenterology” Thymoma-associated multiorgan autoimmunity can cause liver damage and affects multiple organs, with limited treatment options and a generally poor prognosis.
January 2021 in “ABC Heart Failure & Cardiomyopathy” When treating older patients with both heart valve disease and heart muscle disease, doctors should create personalized treatment plans that address both conditions.
7 citations
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January 2017 in “Neuromuscular Disorders” A rare autoimmune condition, Satoyoshi syndrome, can start in adults and improve with immunosuppressive treatment.
3 citations
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April 2009 in “Congestive Heart Failure” Sympathetic activation and venous tone are crucial for heart failure symptoms.
4 citations
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October 2021 in “Journal of Clinical Medicine” Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
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.
May 2021 in “Indian journal of forensic medicine and toxicology” Two patients with heart issues had successful surgeries and improved symptoms.
21 citations
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January 2008 in “Indian Journal of Dermatology Venereology and Leprology”
1 citations
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December 2023 in “Curēus” Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
May 2025 in “Journal of the ASEAN Federation of Endocrine Societies” VHL disease can cause early paragangliomas, needing lifelong monitoring.
6 citations
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February 2023 in “Lara D. Veeken” Satoyoshi syndrome is likely an autoimmune disease.
5 citations
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March 2010 in “International Journal of Dermatology” Accurate diagnosis of basaloid follicular hamartoma is crucial to avoid unnecessary treatments.
6 citations
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January 2014 in “Clinical hemorheology and microcirculation” Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.
35 citations
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August 2010 in “The American journal of pathology” Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
5 citations
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January 2002 in “European journal of pediatrics” "D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
23 citations
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June 2016 in “Journal of Veterinary Internal Medicine” Cats can have hypersomatotropism without diabetes, suggesting current diagnosis methods may miss cases.
Parry Romberg syndrome requires awareness and teamwork in primary care for proper diagnosis and management.
11 citations
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January 2013 in “Revista Brasileira De Terapia Intensiva” Eating pacu-manteiga fish can cause Haff disease, leading to severe muscle damage.