42 citations
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May 2013 in “Oral Diseases” Kennedy's disease leads to muscle weakness without a cure, but exercise and managing symptoms may help patients live a normal lifespan.
October 2017 in “Anesthesia and Pain Medicine” Repeated left stellate ganglion blocks may improve skin elasticity, water content, and hair follicle density on the treated side.
May 2022 in “Journal of Neurology Neurosurgery & Psychiatry” The woman's facial symptoms are best explained by primary Sjögren’s Syndrome.
September 2006 in “Plastic and Reconstructive Surgery” The SGAP flap effectively treats large sacral pressure sores with good results and minimal complications.
10 citations
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March 1997 in “Pediatric Dermatology” A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
28 citations
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January 1985 in “Journal of the American Academy of Dermatology” A girl with citrullinemia developed pili torti, suggesting a link between the hair condition and the metabolic disorder.
September 2025 in “Cureus” Early recognition and multidisciplinary management are crucial for improving outcomes in Parry-Romberg syndrome.
17 citations
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April 2022 in “Frontiers in Pharmacology” PRP injections help with carpal tunnel symptoms short-term, but more research is needed for long-term effects.
6 citations
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July 2023 in “Spine Surgery and Related Research” PRP shows promise for spinal pain but needs more guidelines before widespread use.
July 2023 in “Clinical, cosmetic and investigational dermatology” Plica neuropathica can be a sign of schizophrenia and improves with antipsychotic treatment.
May 2025 in “The Journal of Rheumatology” Early diagnosis and treatment are crucial for CAPS, and Eculizumab can be effective.
3 citations
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September 2018 in “JAAD case reports” A Japanese man with rare skin conditions improved with hydroxychloroquine treatment.
65 citations
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September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
The study aims to find the best PRP dose for treating moderate carpal tunnel syndrome.
July 2025 in “Clinical Case Reports” A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
1 citations
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April 2009 in “PM&R” A multidisciplinary approach is crucial for treating stress fractures and related complications in athletes.
1 citations
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December 2018 in “Journal of genetic medicine” A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
April 2016 in “Journal of the American Academy of Dermatology” A 4-year-old girl had a rare hair disorder affecting only part of her scalp.
2 citations
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January 2008 in “International Journal of Neuroscience” A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.
June 2025 in “Proceedings of the National Academy of Sciences” A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.
October 2022 in “Clinical Cosmetic and Investigational Dermatology” Pneumatic compression can cause skin bruising even in healthy individuals.
May 2025 in “The Journal of Rheumatology” Correct diagnosis is crucial for treating overlapping conditions like NMOSD and SLE effectively.
14 citations
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August 2006 in “Clinical and Experimental Dermatology” A girl with no hair neglect developed plica neuropathica in the hospital, lost all her hair, but it grew back.
June 2025 in “المجلة العلمية لعلوم التربية الرياضية” Combining physical rehab with PRP injections helps athletes recover from supraspinatus tendonitis.
A 44-year-old woman with Down's syndrome was diagnosed with both rheumatoid and gouty arthritis and treated with multiple medications.
February 2026 in “Trials” The study aims to find the best platelet-rich plasma dose to relieve moderate carpal tunnel syndrome symptoms.
16 citations
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June 1992 in “PubMed” Steroid pulse therapy improved symptoms in a man with Satoyoshi syndrome.
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.
31 citations
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September 2014 in “Spinal Cord” 3 citations
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April 2017 in “Medicine” An 11-year-old boy in Saudi Arabia has a rare case of hypoparathyroidism with severe brain calcifications but normal development and no known cause.