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.
September 2017 in “Pediatric Dermatology” The document concludes that an experimental drug may help wound healing in Epidermolysis Bullosa, links Hydroa vacciniforme to EBV, discusses diagnosing hair loss disorders, finds many children with eczema have allergies, reviews the safety of a skin medication in children, notes side effects of a Duchenne's treatment, and identifies a marker for pediatric mastocytosis.
7 citations,
January 2016 in “Case reports in pediatrics” A girl with Becker's nevus syndrome showed good improvement in breast development using spironolactone.
4 citations,
September 2013 in “Journal of Plastic Surgery and Hand Surgery” A girl with a rare syndrome had successful hair loss treatment with no relapse after 4 years.
1 citations,
November 2021 in “Biomedicines” Understanding how acne develops in different diseases could lead to new treatments.
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.
March 2014 in “Journal of the American Academy of Dermatology” Alopecia areata is relatively common in children, has a variable course, and shows different responses to treatment; thyroid testing is recommended for those affected.
December 2016 in “British Journal of Dermatology” The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
36 citations,
March 2019 in “European Journal of Human Genetics” The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.
1 citations,
July 2016 in “Elsevier eBooks” Understanding skin structure and development helps diagnose and treat skin disorders.
November 2019 in “Harper's Textbook of Pediatric Dermatology” The document is a detailed medical reference on skin and genetic disorders.
The document is a detailed guide on skin conditions and treatments for dermatologists.
32 citations,
February 2008 in “Journal of the American Academy of Dermatology” KFSD is a genetic disorder causing hair loss and skin issues, with no effective treatment.
20 citations,
February 2003 in “Facial Plastic Surgery” Treat adult facial vascular anomalies with lasers, surgery, or observation, depending on the patient's specific condition.
2 citations,
April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
1 citations,
September 2019 in “Journal of Investigative Dermatology” The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
September 2019 in “Journal of Investigative Dermatology” People with pattern hair loss have higher polyamine levels in the top of their head compared to the back.
September 2019 in “Journal of Investigative Dermatology” Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.
September 2019 in “Journal of Investigative Dermatology” Specialized ribosomes affect aging in human skin cells.
July 2013 in “British Journal of Dermatology” The document reviews key historical figures and discoveries in dermatology.
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.
27 citations,
December 2015 in “Mayo Clinic Proceedings” The document concludes that lifestyle changes and medical treatments can significantly reduce symptoms of Hidradenitis Suppurativa, a chronic skin condition.
7 citations,
December 2008 in “Expert Review of Dermatology” The document concludes that various childhood hair and nail disorders exist, some may improve on their own, and advances in genetics and immunology could enhance treatment and counseling.
11 citations,
February 2003 in “Baillière's best practice & research. Clinical obstetrics & gynaecology/Baillière's best practice and research in clinical obstetrics and gynaecology” Acne and increased body hair in teenage girls are normal but severe cases may need hormone evaluation and treatment can prevent diabetes linked to PCO.
May 1993 in “Current problems in dermatology” Skin symptoms are important for diagnosing infections in children.
5 citations,
December 1942 in “Journal of the American Medical Association” Choline and biotin are important for liver health and preventing certain deficiencies in animals, and more research is needed to understand their benefits in humans.
2 citations,
January 2011 in “Elsevier eBooks” Early treatment of acne is crucial to prevent scarring and psychological effects.
63 citations,
September 2020 in “Frontiers in Microbiology” Probiotics show promise for health benefits but need more research to understand how they work.
12 citations,
February 2023 in “Journal of Personalized Medicine” Type 1 diabetes often occurs with other autoimmune diseases, and personalized treatment based on genetics can improve outcomes.
48 citations,
November 1992 in “International Journal of Dermatology” Toxic epidermal necrolysis is a severe skin reaction often linked to drugs, requiring careful medication use and supportive care.