July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
September 2024 in “The Neurohospitalist” Careful management of chronic hyponatremia is crucial to prevent severe neurological issues.
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.
June 2015 in “Annals of the Rheumatic Diseases” Managing multiple autoimmune diseases in one patient is very challenging.
1 citations
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September 2025 in “Viruses” Hantavirus survivors often face long-term health issues, needing ongoing care.
April 2026 in “SHILAP Revista de lepidopterología” Early diagnosis and treatment of myositis in SLE patients lead to better outcomes.
16 citations
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November 2008 in “Journal of the American Academy of Dermatology” Consider necrolytic acral erythema in similar cases and treat with oral zinc sulfate.
1 citations
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February 2023 in “Pediatric Dermatology” Early recognition of symptoms is crucial for treating IPEX syndrome with a stem cell transplant.
7 citations
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April 2021 in “Journal of Lower Genital Tract Disease” Erosive lichen sclerosus is a distinct subtype with specific skin features, and treatment led to complete resolution in half of the cases.
Hepatitis B vaccination can trigger HSP, and vitamin D correction and tonsillectomy can effectively manage it.
2 citations
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January 2014 in “Case Reports in Clinical Medicine” Cronkhite-Canada syndrome is a rare condition causing gut polyps, hair loss, skin changes, and nail issues, often with a poor outlook.
A woman in Sri Lanka was diagnosed with lupus after presenting with protein loss from the gut and other symptoms.
January 2025 in “Current Allergy and Asthma Reports”
May 2025 in “The Journal of Rheumatology” Early diagnosis and treatment are crucial for CAPS, and Eculizumab can be effective.
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
August 2023 in “The American Journal of Medicine” A young woman with lupus was treated with hydroxychloroquine and prednisone.
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.
29 citations
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December 2017 in “Molecular therapy” Enzyme replacement therapy improved multiple symptoms of homocystinuria in mice.
5 citations
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June 2015 in “British Journal of Dermatology” A certain medication improved severe itching in a boy with liver and bowel disease by reducing histamine levels, suggesting a new treatment target.
27 citations
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January 2013 in “Indian Journal of Dermatology, Venereology and Leprology” PCOS is a complex disorder managed by treating symptoms and requires a team of specialists.
January 2023 in “Indian Dermatology Online Journal” Uncombable hair syndrome is linked to Zellweger syndrome.
26 citations
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September 2009 in “Psychosomatics” A girl initially thought to have a psychiatric disorder was later found to have a lupus-related condition, which improved with proper treatment.
February 2025 in “Gastroenterology” Corticosteroids improved symptoms in a man with Cronkhite-Canada Syndrome.
January 2024 in “Oxford medical case reports” Standard treatment for congenital erythropoietic porphyria was ineffective over five years.
16 citations
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October 2013 in “Anais Brasileiros de Dermatologia” Scalp condition healed with prednisone and tacrolimus.
May 2022 in “Journal of Neurology Neurosurgery & Psychiatry” The woman's facial symptoms are best explained by primary Sjögren’s Syndrome.
15 citations
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April 1970 in “PubMed” Netherton's syndrome may have a familial link and doesn't always include atopy.
April 2020 in “Journal of the Endocrine Society” The patient with a misplaced pituitary gland and interrupted pituitary stalk is being treated with hormone replacement.
September 2025 in “Indian Journal of Child Health” Satoyoshi Syndrome is hard to diagnose and treat due to its rarity and complex symptoms.
September 2007 in “The American Journal of Gastroenterology” Recognizing lupus as a cause of severe gut issues is crucial for effective treatment.