January 2012 in “Modern Plastic Surgery” Toe Tourniquet Syndrome is often misdiagnosed.
October 2022 in “Rheumatology (Bulgaria)” Accurate diagnosis of progressive supranuclear palsy requires thorough neurological assessments and MRI.
1 citations
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July 2024 in “JCEM Case Reports” A new genetic variant of Woodhouse-Sakati syndrome was found in two adult sisters in Russia.
15 citations
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March 2009 in “Pediatric dermatology” A young girl developed unusually long eyelashes with a hair loss condition without other health issues or medication causes.
December 2023 in “Journal of Cutaneous Immunology and Allergy” A man developed myasthenia gravis after alopecia areata, and treatment improved his symptoms and stopped hair loss.
May 2025 in “The Journal of Rheumatology” Purpura fulminans can signal underlying autoimmune disorders, not just infections.
July 2018 in “Kidney international” Genetic testing for EGFR mutations is crucial in similar cases.
August 2013 in “Gastroenterology” A 60-year-old man with Cronkhite-Canada syndrome improved with treatment, but the condition has a high mortality rate and a risk of colorectal cancer.
3 citations
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June 2018 in “The New England Journal of Medicine” A woman with Cushing's syndrome improved after surgery to remove a tumor causing the condition.
3 citations
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December 1967 in “Australasian Journal of Dermatology” Becker's Melanosis and Hypertrichosis mainly affects young males, causing brown skin patches and extra hair on one side of the upper body.
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
1 citations
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March 2022 in “Frontiers in Medicine” Regular endoscopic checks are crucial for Cronkhite-Canada syndrome patients to catch potential cancers early.
62 citations
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January 2010 in “Hormone research in paediatrics” Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
1 citations
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January 2025 in “Pediatria i Medycyna Rodzinna” Accurate diagnosis and zinc supplements can improve life quality in acrodermatitis enteropathica, even with normal zinc levels.
5 citations
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June 2015 in “Journal of dermatology” A woman and her daughter had thallium poisoning from a herbal drink and rodenticide, causing hair loss and other symptoms.
January 2018 in “Springer eBooks” Trichotillomania is a condition where people repeatedly pull out their hair, which can be triggered by stress and has various physical signs.
The document concludes that Loose Anagen Hair Syndrome is a benign condition where hair is thin and easily pulled out, often improving with age.
A woman's Cushing's syndrome caused by adrenal cancer improved after surgery.
26 citations
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June 2004 in “Clinical Genetics” The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
April 2026 in “Diagnostics” Parry–Romberg Syndrome can involve the brain even without obvious symptoms, and a new diagnostic framework is suggested for early detection.
2 citations
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February 2021 in “The Pediatric Infectious Disease Journal” Hair loss may be a delayed side effect of Multisystem Inflammatory Syndrome in children after COVID-19.
3 citations
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March 2017 in “International journal of women’s dermatology” Some domesticated animals have the same genetic skin diseases as humans, which can help doctors understand human genetic mutations.
19 citations
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January 1991 in “PubMed” Glucocorticoid treatment improved symptoms in a girl with Satoyoshi disease.
2 citations
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August 2022 in “World Journal of Clinical Cases” Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
A 69-year-old smoker was wrongly diagnosed with lung cancer but actually had a rare lymphatic system disorder.
May 2023 in “Karnataka Pediatric Journal” Early diagnosis and aggressive treatment are crucial for managing SLE-related pancreatitis in children.
April 2017 in “IOSR journal of dental and medical sciences” Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.
October 2023 in “Journal of the Endocrine Society” A rare case of Cushing syndrome was successfully treated with one-sided adrenal gland removal, suggesting personalized treatment is important.
May 2025 in “The Journal of Rheumatology” Chronic granulomatous disease may be linked to developing systemic lupus erythematosus.
November 2024 in “Rheumatology Advances in Practice” Timely diagnosis of SLE is crucial due to symptom overlap with fibromyalgia.