January 2009 in “Springer eBooks” The document concludes that managing skin conditions during pregnancy is important and requires specialized care.
July 2024 in “Journal of Dermatological Treatment” Botanical extracts and Minoxidil improved hair condition in a boy with a genetic disorder.
[object Object] 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.
19 citations,
February 2016 in “Journal of Biological Chemistry” KCNQ potassium channels help control the sensitivity of touch receptors in the skin.
11 citations,
January 2015 in “PubMed” A specific laser treatment can promote hair growth in mice by increasing certain protein levels.
January 2025 in “Frontiers in Medicine” Hair follicles are key to treating vitiligo and alopecia areata, but challenges exist.
September 2021 in “Pediatrics in review” A baby with KID syndrome died from infections and organ failure at 18 months old.
11 citations,
September 2021 in “American Journal of Medical Genetics Part A” Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
1 citations,
September 2023 in “Stem cell research & therapy” Mesenchymal stem cells could help treat aging-related diseases better than current methods.
January 2018 in “Indian Dermatology Online Journal” A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.
12 citations,
October 1996 in “Dermatologic clinics” Advances in genetics may lead to targeted treatments for hair disorders.
January 2022 in “International journal of dermatology and venereology” A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
152 citations,
April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
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.
[object Object] 80 citations,
February 2021 in “Cureus” Many COVID-19 survivors continue to experience symptoms like fatigue and concentration problems after recovery, possibly needing rehabilitation.
11 citations,
March 2013 in “Journal of Ophthalmic Inflammation and Infection” Alopecia can be reversed with timely steroid treatment in VKH and SO diseases.
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.
3 citations,
November 2019 in “Journal of the ASEAN Federation of Endocrine Societies” A 20-year-old woman with a rare form of Turner syndrome showed improvement with hormonal therapy and needs comprehensive care.
1 citations,
March 2023 in “Medicine” Satoyoshi syndrome can cause eye problems like uveitis and retinal vein issues.
28 citations,
January 2011 in “Hearing Research” Gene therapy, especially using atoh1, shows promise for creating functional sensory hair cells in the inner ear, but dosing and side effects need to be managed for clinical application.
May 2012 in “Nature Genetics” Blond hair in Solomon Islanders is due to a unique genetic variant, not European ancestry.
9 citations,
November 2018 in “Drug Discovery Today” Using skin stem cells and certain molecules might lead to scar-free skin healing.
11 citations,
January 2011 in “Developmental neurobiology” Ptprq has multiple forms that change during inner ear development.
103 citations,
June 2018 in “International Journal of Molecular Sciences” FGF signaling is a promising target for developing treatments for wounds, metabolic diseases, and cancer.
68 citations,
August 2012 in “Journal of the American Academy of Dermatology” Dermatoscopy is a useful tool for diagnosing hair disorders and can help choose samples for more detailed analysis.
17 citations,
September 2010 in “Pediatric dermatology” A 15-year-old with KID syndrome developed a rare skin condition called PEHFN.
10 citations,
March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
9 citations,
November 2017 in “Journal of Glaucoma” Latanoprost eye drops may cause skin depigmentation.
7 citations,
January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
5 citations,
November 2021 in “Saudi medical journal” The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.