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.
December 2007 in “Röntgenpraxis” Popliteal Artery Entrapment Syndrome (PAES) is a rare but possible cause of leg pain during walking, even in untrained women.
3 citations
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December 2022 in “The Neurologist” CARASIL, a rare genetic disorder, was confirmed in an Arabic woman, highlighting its rarity and need for stroke prevention.
October 2024 in “Medicine” Cronkhite-Canada syndrome is rare, has a poor prognosis, and requires early diagnosis and ongoing treatment.
3 citations
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September 2005 in “Experimental dermatology” The cornified envelope is crucial for skin's barrier function and involves key proteins and genetic factors.
July 2025 in “Pediatric Transplantation” A rare skin infection in a 10-year-old kidney transplant patient was successfully managed by adjusting medication.
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.
1 citations
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February 2014 in “Italian journal of medicine” An 80-year-old woman with Cronkhite-Canada syndrome had multiple polyps and symptoms like diarrhea, hair loss, nail issues, and dark skin.
June 2006 in “Annales de Dermatologie et de Vénéréologie” Tranexamic acid effectively reduced swelling episodes in a girl with a rare form of hereditary angioneurotic edema.
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.
2 citations
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August 2014 in “PubMed” Losartan may help treat Postural Orthostatic Tachycardia Syndrome (POTS) symptoms.
1 citations
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January 2018 in “Journal of SAFOMS” A rare ovarian tumor can cause unusual male-like symptoms, but surgery usually leads to a good outcome.
1 citations
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November 2022 in “Diagnostics” A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
19 citations
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January 1991 in “PubMed” Glucocorticoid treatment improved symptoms in a girl with Satoyoshi disease.
March 2005 in “Journal of the American Academy of Dermatology” Recognizing minor skin lesions can help identify serious cancer syndromes.
October 2021 in “Dermatology practical & conceptual” A Saudi girl was diagnosed with Loose Anagen Hair Syndrome, a rare condition causing easy hair loss without scarring.
31 citations
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June 2011 in “Movement Disorders” The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
Recognize Rapunzel syndrome in children with unexplained stomach issues for timely treatment.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
January 2025 in “Genetics in Medicine Open” A new gene variant in a girl with Coffin-Lowry Syndrome may link the condition to early puberty.
January 2025 in “Case Reports in Oncological Medicine” Consider Sertoli-Leydig cell tumors in Peutz-Jeghers syndrome patients with adnexal masses.
April 2026 in “Human Genome Variation” The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
22 citations
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July 2006 in “Annals of The Royal College of Surgeons of England” Hair or fiber wrapped tightly around a toe can lead to serious injury if not treated quickly.
January 2024 in “Genetics in Medicine Open” Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
October 2022 in “Miscellaneous” A rare, non-cancerous ovarian tumor was successfully treated with surgery, improving the patient's symptoms.
May 2025 in “The Journal of Rheumatology” Catatonia can be a rare sign of lupus, needing careful diagnosis and treatment.
16 citations
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July 2021 in “American Journal of Medical Genetics Part A” Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
47 citations
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June 2011 in “Movement Disorders” The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.
January 2021 in “Dermatology online journal” One twin girl has Loose anagen syndrome with poorly anchored hair, diagnosed with a simple hair pull test, while her identical twin does not have the condition.
March 2024 in “Indian Journal of Dermatology” The man was diagnosed with Cronkhite-Canada syndrome, a rare disorder with GI polyps, skin issues, hair loss, and nail problems.