7 citations
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March 2022 in “The FASEB journal” Adult mice with CBS deficiency show minimal health issues and normal lifespan despite high homocysteine levels.
August 2025 in “Annals of the Rheumatic Diseases” SLE is likely one disease with various symptoms, not multiple distinct diseases.
39 citations
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July 1997 in “American Journal of Medical Genetics” The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.
Controlling Tslp can improve health in AEC syndrome patients.
October 2024 in “Journal of the Endocrine Society” Early detection of ovarian steroid cell tumors is crucial to prevent lasting symptoms.
112 citations
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January 2013 in “Experimental dermatology” Faulty Notch signalling may cause hair follicle changes and inflammation in hidradenitis suppurativa.
February 2024 in “International Journal of Dermatology” Cryptococcoid Sweet syndrome can be linked to hydralazine use and multiple autoantibodies, requiring high clinical suspicion and more research.
3 citations
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April 2015 in “Cleveland Clinic Journal of Medicine” The woman has scurvy and needs more vitamin C.
December 2025 in “Clinical Cosmetic and Investigational Dermatology” A rare lupus case on the chin was successfully treated with steroids and immunomodulators after accurate diagnosis using advanced imaging techniques.
January 2025 in “JCEM Case Reports” Ketoconazole improved symptoms of ACTH-independent Cushing syndrome despite inconclusive initial scans.
February 2026 in “Medico Research Chronicles” Homeopathy improved hair growth, gut health, and emotions in a boy with Down syndrome.
May 2022 in “CMAJ. Canadian Medical Association journal” Rosella C. believes an earlier diagnosis of Cushing disease could have prevented severe symptoms.
35 citations
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June 1997 in “Annals of the New York Academy of Sciences” Early diagnosis and multidisciplinary care are crucial for managing PCOS in adolescents.
2 citations
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June 2022 in “International Journal of Molecular Sciences” Lower levels of certain genes in hair cells improve hair loss treatment outcomes.
3 citations
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August 2021 in “European journal of medical research” Microbial biofilms may cause red scrotum syndrome.
September 2022 in “Indian Journal of Paediatric Dermatology” Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
68 citations
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August 2009 in “American Journal of Medical Genetics Part A” A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
18 citations
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October 2012 in “Dermatologic Clinics” Early diagnosis and aggressive treatment are key for managing rare scalp disorders that cause permanent hair loss.
13 citations
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October 2003 in “Clinical pediatrics” Steroid treatment greatly improved the symptoms of a boy with a rare disorder called Satoyoshi syndrome.
3 citations
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January 2013 in “Türk veterinerlik ve hayvancılık dergisi/Turkish journal of veterinary and animal sciences” A cat in Turkey had Ehlers-Danlos syndrome, showing very stretchy skin and easy bruising.
January 2024 in “Medicinska istrazivanja” Timely treatment of EPDS can reduce scarring.
1 citations
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November 2024 in “AME Medical Journal” Vitamin C deficiency can persist in high-risk patients despite supplementation.
22 citations
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March 2020 in “Journal of The American Academy of Dermatology” DSC cell injections significantly improved hair density and diameter, showing potential as a hair loss treatment.
September 2023 in “Clinical, cosmetic and investigational dermatology” A new surgical method using special sutures significantly reduced wound size and prevented disease return in patients with a scarring scalp condition.
January 2026 in “Figshare” January 2026 in “Figshare” 4 citations
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January 2017 in “Acta dermato-venereologica” A new EDA gene mutation was found in a Chinese family with a specific skin disorder.
January 2018 in “Journal of clinical and investigative dermatology” Dermoscopy is a useful, low-cost method for diagnosing various types of hair loss disorders known as Cicatricial Alopecia.
April 2023 in “Journal of Investigative Dermatology” Chronic graft-versus-host disease in the skin shows strong Th1 immune response and unique barrier issues.
8 citations
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December 1997 in “International Journal of Dermatology” The patient has a leg condition caused by vein issues, needing lifestyle changes and leg care.