Costello syndrome with special cutaneous manifestations and HRAS G12D mutation: A case report and literature review

Abstract

Costello syndrome (CS) is a rare autosomal dominant genetic disease, which was first described by Costello in 1997 based on its distinctive phenotype. The characteristic symptoms of CS are as follows: growth delay, intellectual disability, dermatologic anomalies, cardiac problems, musculoskeletal abnormalities, special facial features, and a predisposition to developing neoplasia (Rauen, 2007). In most cases, Costello syndrome is caused by specific heterozygous, de novo variants in HRAS gene (

Multidisciplinary Management of Costello Syndrome: Current Perspectives

“… 15 , 17 , 19–21 , Recently, the p.Gly12Asp variant was described in a 31-year-old patient with special but milder manifestations. 22 Only seven patients have been reported with p.Gly12Val. This amino acid change is associated with a severe lethal phenotype, including severe hypertrophic cardiomyopathy (HCM), fetal hydrops, and hepatomegaly.…”