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.
December 2022 in “Journal of Medical Case Reports” A 20-year-old woman was found to have a rare ovarian tumor causing symptoms like acne and a low-pitched voice, which disappeared after the tumor was removed.
9 citations
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December 2012 in “Indian Journal of Dermatology Venereology and Leprology” Two sisters had rare, widespread cysts and complete hair loss, suggesting a genetic link.
November 2024 in “Rheumatology Advances in Practice” Timely diagnosis of SLE is crucial due to symptom overlap with fibromyalgia.
October 2024 in “Journal of the Endocrine Society” Early detection of ovarian steroid cell tumors is crucial to prevent lasting symptoms.
November 2023 in “Gastroenterology” A woman with Budd-Chiari syndrome improved after treatment and needs a liver transplant, highlighting the importance of considering non-criteria antiphospholipid syndrome in similar cases.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
13 citations
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December 2010 in “Annales de Dermatologie et de Vénéréologie” The conclusion is that skin, mucous, and eye problems after Stevens-Johnson syndrome and Lyell syndrome significantly affect patients' lives, highlighting the need for comprehensive care and eye check-ups.
13 citations
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February 2004 in “Clinical and Experimental Ophthalmology” A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.
July 2021 in “International Journal of Homoeopathic Sciences” Certain factors can trigger hormonal imbalances and cyst formation, leading to Polycystic Ovarian Syndrome (PCOS).
14 citations
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January 2014 in “Annals of Dermatology” Some cases of folliculotropic mycosis fungoides may progress slowly and not need aggressive treatment.
4 citations
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September 2013 in “Journal of Plastic Surgery and Hand Surgery” A girl with a rare syndrome had successful hair loss treatment with no relapse after 4 years.
October 2013 in “The American Journal of Gastroenterology” The man's diarrhea was caused by a rare disorder called Cronkhite-Canada syndrome, which improved with specific medications.
5 citations
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May 2011 in “European Journal of Medical Genetics” A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
October 2024 in “Journal of the Endocrine Society” Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
71 citations
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January 2011 in “Orphanet Journal of Rare Diseases” IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
4 citations
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October 2023 in “Children” Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.
18 citations
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January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
February 2024 in “Cureus” A large scalp tumor was removed from an elderly woman, who was later diagnosed with schizophrenia.
July 2018 in “Nasza Dermatologia Online” Frontal fibrosing alopecia and ulerythema ophryogenes may be related and can evolve from one to the other.
44 citations
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September 2011 in “Journal of Pediatric Gastroenterology and Nutrition” NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
February 2022 in “Obstetrics and gynaecology cases - reviews” PCOS can cause unusual symptoms like late puberty and enlarged clitoris, making diagnosis difficult.
14 citations
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December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
September 2015 in “Philippine Journal of Internal Medicine” Recognizing and treating overlap syndrome in connective tissue diseases is crucial.
20 citations
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January 1997 in “Dermatology” The patient with EEC syndrome had scarring alopecia due to deep folliculitis, possibly linked to abnormal hair structure.
52 citations
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October 1997 in “American Journal of Psychiatry” Trichotillomania is a complex condition involving compulsive hair pulling that causes distress and hair loss.
August 2025 in “The Nishinihon Journal of Dermatology” Prednisolone treatment improved symptoms and hair regrowth in a patient with Cronkhite-Canada Syndrome.
January 2026 in “JCEM Case Reports” A rare case of Cushing's syndrome and pheochromocytoma requires careful re-evaluation to avoid complications.
8 citations
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April 2017 in “American Journal of Dermatopathology” Inflammation may cause nail issues in Cronkhite–Canada Syndrome.
23 citations
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April 2021 in “International Journal of Dermatology” COVID-19 may trigger systemic lupus erythematosus, requiring careful diagnosis and treatment.