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.
October 2023 in “Case reports in dermatological medicine” A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
11 citations,
November 2011 in “The Journal of Dermatology” Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
April 2017 in “Journal of Investigative Dermatology” Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
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.
April 2017 in “Journal of Investigative Dermatology” Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
April 2017 in “Journal of Investigative Dermatology” Eating a lot of fat increases PKCβ and inflammation in skin fat cells, which affects skin and hair health.
April 2017 in “Journal of Investigative Dermatology” The PON1 192R gene variant is linked to a higher risk of psoriasis and heart disease in Western Mexico.
April 2017 in “Journal of Investigative Dermatology” Researchers created a skin graft that senses blood glucose and could treat diabetes using CRISPR-edited stem cells.
April 2017 in “Journal of Investigative Dermatology” Found new possible treatments for hair loss.
6 citations,
July 2011 in “British Journal of Dermatology” A man with KID syndrome developed a rare cancer in a long-term skin infection.