6 citations
,
March 2017 in “Journal of the European Academy of Dermatology and Venereology” Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.
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.
76 citations
,
May 2011 in “Liver transplantation” Liver transplantation is a viable option for children with propionic acidemia, improving quality of life and diet, but does not remove all risks and long-term brain outcomes are uncertain.
5 citations
,
January 2021 in “Indian Journal of Pharmacology” Nilotinib can cause generalized keratosis pilaris.
1 citations
,
July 2022 in “BMJ Case Reports” A woman was wrongly diagnosed with lupus but actually had leprosy.
5 citations
,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” The research linked PLCD1 gene variants to the development of trichilemmal cysts.
14 citations
,
November 2016 in “Lupus” Lenalidomide effectively and safely treats skin symptoms in pediatric lupus, reducing the need for prednisone.
12 citations
,
June 2009 in “Journal of Cosmetic Dermatology” Loose Anagen Hair syndrome occurs in dark-skinned children and often improves on its own.
April 2021 in “International Journal of Research in Dermatology” A child with a rare scalp condition regrew hair after treatment.
1 citations
,
August 2019 in “Chinese Medical Journal” A man developed facial skin lesions after a stem cell transplant, which improved with specific treatments.