103 citations,
March 2015 in “Nature Communications” A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
21 citations,
June 2010 in “Anais Brasileiros De Dermatologia” The document reports the first Brazilian case of a girl with Becker nevus syndrome, characterized by skin changes, breast underdevelopment, and scoliosis.
4 citations,
August 2018 in “Journal of pediatric neurology” Becker's Nevus Syndrome is a rare condition with a skin patch and possible bone and muscle abnormalities, treated mainly for appearance.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
23 citations,
September 2014 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Laser treatments are the most effective for porokeratotic adnexal ostial nevus.
10 citations,
October 2016 in “Monoclonal antibodies in immunodiagnosis and immunotherapy” Researchers created specific antibodies that detect a protein important in development and various conditions, and can be used for research and diagnosis.
9 citations,
May 2014 in “BMC medical genetics” A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
A 44-year-old woman with Down's syndrome was diagnosed with both rheumatoid and gouty arthritis and treated with multiple medications.
32 citations,
April 1994 in “Journal of the American Academy of Dermatology” High androgen levels and genetic factors likely cause Becker's nevus and related symptoms.
14 citations,
January 2015 in “Acta dermato-venereologica” Acitretin significantly reduced inflammatory attacks in a woman with Naevus Comedonicus Syndrome but caused side effects.
12 citations,
January 2016 in “Endocrinology, diabetes & metabolism case reports” Testosterone therapy improved physical and social health in a male with 49,XXXXY syndrome.
5 citations,
September 1986 in “Pediatric Dermatology” A family showed a new condition with inherited hair loss and skin changes, possibly due to one genetic disorder.
June 2002 in “Surgery (oxford)” The document says that treating burns late focuses on improving function, appearance, and helping patients return to normal life, using both non-surgical and surgical methods.
506 citations,
January 2012 in “Molecular and Cellular Endocrinology” Melatonin affects many body functions beyond sleep by interacting with specific receptors in various tissues.
379 citations,
May 2016 in “Cochrane library” Corticosteroids, especially prednisone, improve short-term muscle strength in Duchenne muscular dystrophy but have manageable side effects.
245 citations,
January 2018 in “Bone Research” TGF-β is crucial for tissue repair and can cause diseases if not properly regulated.
155 citations,
August 1991 in “Journal of The American Academy of Dermatology” Methotrexate treats various disorders by inhibiting DNA synthesis, but careful monitoring is needed to avoid toxicity and manage side effects.
144 citations,
March 2013 in “Circulation Research” K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.
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.
101 citations,
July 2020 in “Dermatologic therapy” COVID-19 can cause skin issues like rashes and "COVID toes," and people with skin conditions should adjust their treatments if they get the virus.
56 citations,
April 2015 in “American journal of medical genetics. Part A” Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
53 citations,
June 2012 in “Annales d'Endocrinologie” The document concludes that recognizing and properly diagnosing lipodystrophy syndromes is crucial for effective management and treatment.
52 citations,
September 1996 in “Obstetrics & Gynecology” People often struggle to consistently use contraceptives and other medications, and long-acting options might be better for those who want to avoid daily doses.
47 citations,
March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
45 citations,
February 2001 in “Joint bone spine” Gonadal dysgenesis, like Turner's and Klinefelter's syndromes, negatively affects bone health, but hormone treatments can help.
43 citations,
December 2013 in “Seminars in Cell & Developmental Biology” Genetic mutations can cause hair growth disorders by affecting key genes and signaling pathways.
41 citations,
October 2011 in “American journal of clinical dermatology” Eruptive vellus hair cysts are a cosmetic skin condition, more common in young adults, with few effective treatments.
39 citations,
January 2019 in “Cells” Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
38 citations,
January 2014 in “International Journal of Endocrinology” Adrenal disorders can cause lasting brain and behavior issues in children.
31 citations,
January 2014 in “Journal of endocrinological investigation” Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.