NovelELOVL4mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34)

Pierre R. Bourque, Jodi Warman-Chardon, Daniel A. Lelli, Lauren LaBerge, Carly Kirshen, Scott H. Bradshaw, Taila Hartley, Kym M. Boycott
2018 Neurology: Genetics  
Erythrokeratodermia (EK) is a rare skin disorder, likely genetic and usually present from infancy. 1 There is patchy symmetrical involvement over the body surface, manifested in progressive figurate plaques of hyperkeratosis and more transient areas of erythema. There is significant overlap in the clinical and genetic features of the "variabilis" and "progressiva" forms of EK. Restricted cutaneous syndromes of EK have been described associated with mutations in the connexin (GJB3, GJB4, and
more » ... ) and loricrin (LOR) genes. The majority of patients with EK, however, have no pathogenic mutations in the GJB genes or LOR.
doi:10.1212/nxg.0000000000000263 pmid:30065956 pmcid:PMC6066365 fatcat:56svydx7jvfuldab75wj7d6sau