April 2017 in “Journal of Investigative Dermatology” Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
April 2017 in “IOSR journal of dental and medical sciences” Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.
December 2016 in “Springer eBooks” Chrousos Syndrome is caused by mutations that make the body less sensitive to glucocorticoids, leading to various symptoms and requiring high-dose treatment.
September 2016 in “Journal of Dermatological Science” Björnstad syndrome causes twisted hair from birth.
April 2016 in “Journal of The American Academy of Dermatology” Lichen planus may be associated with a higher risk of metabolic syndrome.
April 2016 in “Journal of The American Academy of Dermatology” People with Down syndrome are more likely to experience hair loss, and using dermoscopy can help diagnose it.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
Controlling Tslp can improve health in AEC syndrome patients.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
IL6 is linked to higher risk of heart disease in people with a certain mouth condition.
September 2015 in “Turkish Journal of Endocrinology and Metabolism” Consider Werner syndrome in young patients with early aging signs and metabolic issues.
August 2015 in “Postgraduate obstetrics & gynecology” Women with PCOS often have insulin resistance, abnormal lipid levels, and a higher risk of diabetes and heart disease; lifestyle changes and medication like metformin can help manage these risks.
August 2015 in “Postgraduate obstetrics & gynecology” Women with PCOS often have metabolic issues like insulin resistance and a higher risk of diabetes and abnormal lipid levels.
July 2015 in “Cambridge University Press eBooks” The document concludes that careful history and physical exams are crucial for accurately diagnosing polycystic ovary syndrome and distinguishing it from other similar conditions.
January 2015 in “IP Indian journal of clinical and experimental dermatology” The study concluded that women with female pattern hair loss had higher waist circumference, triglyceride levels, lower HDL, and blood glucose levels compared to those without hair loss.
Older age, obesity, hirsutism, and having children increase metabolic risk in women with PCOS.
January 2013 in “Journal of Endocrinology and Diabetes Mellitus” Cushing syndrome often causes low testosterone and sexual issues in men.
January 2013 in “International Journal of Trichology” A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
September 2012 in “Annals of saudi medicine/Annals of Saudi medicine” The twins' condition is unique and doesn't match any known syndromes.
July 2012 in “American Journal of Clinical Pathology” Hair examination is crucial for diagnosing Netherton syndrome in patients with certain skin symptoms.
April 2012 in “The Journal of Urology” Patients with metabolic syndrome had lower Gleason scores when diagnosed with prostate cancer.
January 2012 in “Yearbook of Dermatology and Dermatologic Surgery” Studying acne-related syndromes helps us understand acne causes and can lead to new treatments.
February 2009 in “Journal of The American Academy of Dermatology” A man with Klinefelter syndrome had a leg ulcer that didn't heal well, even with treatment.
December 2008 in “The Internet journal of surgery” A 16-year-old girl with a hair-eating disorder needed surgery to remove a hairball from her stomach and small bowel.
August 2008 in “Obstetrics & gynecology science” Polycystic Ovary Syndrome (PCOS) is a complex disorder with both immediate and long-term health effects, including menstrual issues, infertility, and increased risk of diabetes and heart disease.
January 2008 in “Humana Press eBooks” Women with PCOS have higher risks of heart disease, type 2 diabetes, and endometrial cancer.
January 2006 in “Dianzi xianwei xuebao” Netherton syndrome causes specific skin and hair changes that help in early diagnosis.
February 2005 in “Journal of The American Academy of Dermatology” Metabolic syndrome can cause serious health issues and should be considered when treating women with severe acne.
January 1983 in “Journal of the Japan Veterinary Medical Association” Daily treatment eventually improved the dog's symptoms.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.