5 citations,
December 2014 in “Molecular cytogenetics” A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
November 2016 in “Elsevier eBooks” Genetic mutations can affect female sexual development, requiring personalized medical care.
42 citations,
October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the KRT85 gene cause hair and nail problems.
32 citations,
January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.
October 2022 in “Medičnì perspektivi” Darier-White disease causes skin and nail issues, starts around age 20, worsens until 40-50, and has poor treatment options.
43 citations,
April 2017 in “Experimental Dermatology” Female pattern hair loss has unclear causes, possibly involving genetics, hormones, and environment, and needs better treatments.
33 citations,
September 2008 in “Dermatologic therapy” Doctors should know how to diagnose and treat PCOS, which often involves checking for high male hormone levels and using medications to manage symptoms.
June 2022 in “Indian journal of clinical and experimental opthalmology” The report shows a young man with Hutchinson-Gilford Progeria Syndrome had typical and additional eye problems related to the disease.
August 1996 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that PCOS in adolescents is complex and requires comprehensive care to manage its symptoms and associated health risks.
258 citations,
July 2016 in “Reproductive Biology and Endocrinology” The document concludes that insulin resistance is key in PCOS development and early treatment is crucial to prevent complications.
150 citations,
October 2010 in “The American Journal of Pathology” The document concludes that more research is needed to better understand and treat primary cicatricial alopecias, and suggests a possible reclassification based on molecular pathways.
97 citations,
July 2006 in “Dermatologic therapy” The document concludes that accurate diagnosis and personalized treatment are important for skin problems in women with PCOS.
31 citations,
September 2006 in “International journal of gynaecology and obstetrics” New treatments for PCOS focus on insulin resistance and reducing testosterone levels, along with traditional hormone therapies.
27 citations,
January 2015 in “Current problems in dermatology” The document concludes that primary scarring alopecias cause permanent hair loss, have unpredictable outcomes, and lack definitive treatments, requiring personalized care.
14 citations,
July 2010 in “Experimental Dermatology” A new mutation in the HR gene causes hair loss in a specific family.
6 citations,
August 2020 in “JCRPE” A boy with a rare form of early puberty caused by a new gene mutation responded well to treatment aimed at reducing testosterone and preserving adult height.
6 citations,
February 2016 in “American Journal of Dermatopathology” The boy with woolly hair nevus had thinner hair and abnormal hair follicles, which improved with treatment but worsened when treatment stopped.
6 citations,
September 2015 in “Journal of Investigative Dermatology” Using special RNA to target a mutant gene fixed hair problems in mice.
2 citations,
January 2015 in “Springer eBooks” Early diagnosis and aggressive treatment are crucial for Cicatricial Alopecia, and treatment effectiveness varies among patients.
1 citations,
October 2019 in “International journal of contemporary pediatrics” A 12-year-old boy with twenty nail dystrophy, a condition affecting all nails, was treated conservatively due to its self-limiting nature and good prognosis.
67 citations,
September 2003 in “Journal of cutaneous pathology” Skin problems are very common in people with end-stage kidney disease.
43 citations,
October 2019 in “Pediatric Research” Lifestyle changes are the main treatment for PCOS, which is a complex condition requiring early management to reduce its health impacts.
32 citations,
April 2013 in “Anais Brasileiros de Dermatologia” The document concludes that inherited epidermolysis bullosa is a challenging genetic condition requiring multidisciplinary care and new treatments.
29 citations,
June 2013 in “Journal of the Saudi Society of Dermatology & Dermatologic Surgery” Alopecia areata is an autoimmune hair loss condition treated with corticosteroids, and histologic confirmation is the best diagnosis method.
16 citations,
July 2012 in “Current pharmaceutical biotechnology” New treatments for skin conditions related to the sebaceous gland are being developed based on current research.
13 citations,
September 1989 in “International Journal of Dermatology” Carbamazepine may cause reversible nail detachment.
3 citations,
February 2020 in “The journal of gene medicine” A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
3 citations,
May 2018 in “Experimental Dermatology” Young HS patients often have other physical and mental health issues, and research on HS covers a wide range of topics including genetics, triggers, treatments, and the need for more data.
2 citations,
July 2018 in “Elsevier eBooks” Trichoscopy is a useful tool for diagnosing and managing hair and scalp conditions, often better than traditional methods.