15 citations
,
January 2013 in “European Journal of Pediatrics” Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
71 citations
,
January 2011 in “Journal of cutaneous pathology” A rare skin condition was confirmed to be associated with a specific virus in a young girl.
1 citations
,
January 2017 in “The Annals of Clinical and Analytical Medicine” Vitamin D receptor gene changes don't affect alopecia areata risk.
6 citations
,
May 2012 in “Pediatric Dermatology” Satoyoshi syndrome can cause hair loss and other serious health issues, and is hard to diagnose.
3 citations
,
April 2011 in “Journal of the American Academy of Dermatology” A 19-year-old man had a rare skin condition on one side of his face that looked like another skin disease.
6 citations
,
November 2011 in “Journal of Dermatological Science” A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
717 citations
,
June 2010 in “Nature” Alopecia areata involves both innate and adaptive immunity, with specific genes linked to the disease.
October 2019 in “Journal of Evolution of Medical and Dental Sciences” A 56-year-old man was diagnosed with Cronkhite-Canada Syndrome after showing symptoms like diarrhea, weight loss, and skin changes.
A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.
20 citations
,
April 2014 in “Autoimmunity” A specific gene variant (rs4833095) is linked to a higher risk of alopecia areata in Koreans.
7 citations
,
July 2013 in “International Journal of Dermatology” No link found between Coxsackie viruses and pemphigus.
11 citations
,
March 2020 in “American Journal of Medical Genetics Part A” A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
April 2018 in “Journal of Investigative Dermatology” The role of γδT-cells in causing alopecia areata remains unclear.
1 citations
,
June 2021 in “Cureus” A girl with hereditary chorea, likely Huntington's disease, had her condition worsened by lupus.
2 citations
,
January 2014 in “Case Reports in Clinical Medicine” Cronkhite-Canada syndrome is a rare condition causing gut polyps, hair loss, skin changes, and nail issues, often with a poor outlook.
May 2025 in “Frontiers in Genetics” A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
January 2014 in “Repository KITopen (Karlsruhe Institute of Technology)” Autoimmune diseases need combined therapy of tolerance induction and immunosuppression.
115 citations
,
October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
Understanding genetics is crucial for treating heart and skin diseases.
23 citations
,
January 2017 in “BMC Medical Genetics” A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
8 citations
,
September 2022 in “Human genomics” Key genes and pathways involved in thyroid eye disease were identified, aiding potential treatment and diagnosis.
1 citations
,
January 2022 in “Annals of Dermatology” A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
March 2025 in “Clinical Cosmetic and Investigational Dermatology” The Tru9I variant in the VDR gene may influence alopecia areata risk and vitamin D levels.
29 citations
,
July 2008 in “British Journal of Dermatology” The patient had paraneoplastic pemphigus without mucosal involvement.
March 2024 in “Clinical, cosmetic and investigational dermatology” Tofacitinib successfully treated vitiligo in a patient with lupus without side effects.
April 2020 in “Journal of the Endocrine Society” A patient with myotonic dystrophy had several autoimmune disorders and thyroid cancer, suggesting a possible link between these conditions.
September 1997 in “Journal of The European Academy of Dermatology and Venereology” The document concludes that corticosteroids effectively treat vasculitis allergica in over 90% of cases, with long-term kidney issues being the main adverse outcome.
February 2026 in “Journal of Advances in Biology & Biotechnology” Alopecia areata causes unpredictable hair loss and requires personalized treatment.
February 2025 in “Journal of the European Academy of Dermatology and Venereology” Mogamulizumab can cause hair loss, often linked to a better treatment response.
1 citations
,
September 2024 in “Journal of the American Academy of Dermatology” Farudodstat may effectively treat alopecia areata without harmful side effects.