May 2010 in “Current Women's Health Reviews” The document concludes that early diagnosis and treatment of PCOS in teenagers is important for managing symptoms and preventing long-term health problems.
January 2010 in “The Year book of perinatal/neonatal medicine” Early skin biopsy helps diagnose and manage severe skin conditions in babies.
September 2009 in “Pediatric Dermatology” UVB is good for a skin condition in Asian kids, a lotion works for head lice, a drug helps with a skin blistering disorder, a foam reduces itchiness in skin inflammation, birthmarks can be more widespread, and criteria for a neurocutaneous disorder were agreed upon.
June 2008 in “British Journal of Dermatology” UK medical students lack dermatology education, liver biopsy patients with risk factors show more fibrosis, and certain fungi resist drugs due to melanin; genetics may influence female hair loss.
April 2008 in “Obstetrics, gynaecology and reproductive medicine” Hirsutism is often caused by high male hormone levels and can be treated with lifestyle changes and medications.
October 2007 in “Journal of Investigative Dermatology” The document suggests a bacteria plays a significant role in acne rosacea and that white hair can regain color after transplant, meriting more research on reversing grey hair.
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
May 1991 in “Current problems in dermatology” Skin issues can indicate immune system problems.
July 1980 in “Journal of The American Academy of Dermatology” The conference concluded that understanding hair and nail disorders is important, iron deficiency may be linked to hair loss, and while some treatments for skin conditions are effective, they may have risks and high costs.
24 citations,
July 2014 in “Journal of Investigative Dermatology” Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
January 2024 in “Clinical, cosmetic and investigational dermatology” A child with a rare vitamin D-resistant condition improved with treatment.
1 citations,
September 2019 in “Steroids” Two new mutations in the AR gene linked to severe androgen insensitivity were found.
September 2022 in “Annals of medicine and surgery” Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
71 citations,
February 2012 in “The American Journal of Human Genetics” A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
44 citations,
January 2004 in “American journal of clinical dermatology” Understanding genetic mutations helps diagnose and treat skin disorders like ichthyosis.
18 citations,
January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
74 citations,
July 2008 in “Journal of Dermatological Case Reports” Trichoscopy is a quick and easy way to diagnose most genetic hair problems without invasive methods.
51 citations,
October 2019 in “Cells” Baricitinib reduces inflammation and improves cell health in premature aging cells.
36 citations,
January 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
6 citations,
July 2019 in “Experimental Dermatology” Skin can produce blood cells, often due to disease, which might lead to new treatments for skin and blood conditions.
1 citations,
May 2013 in “Hair transplant forum international” Non-classical 21 hydroxylase deficiency is an underdiagnosed cause of female hair loss and polycystic ovarian syndrome.
136 citations,
April 2010 in “British Journal of Dermatology” Acitretin is effective for severe skin conditions but has significant side effects and requires careful monitoring.
25 citations,
September 2005 in “Journal of the American Academy of Dermatology” Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
15 citations,
October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
13 citations,
June 2017 in “Biochimie open” All five human steroid 5α-reductase enzymes are found in the endoplasmic reticulum.
11 citations,
November 1998 in “Journal of dermatological science” Knocking out certain genes in mice helps understand skin and hair growth problems.
8 citations,
December 2019 in “Molecular genetics and metabolism reports” Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
5 citations,
January 2015 in “Case reports in medicine” A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
2 citations,
January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
2 citations,
December 2020 in “Frontiers in genetics” Researchers found genes linked to feather growth speed in Shouguang chickens, highlighting two genes that might explain differences in feathering.