Syndrome in question. Costello syndrome.
Costello syndrome (CS) is a rare genetic disorder, first described by Costello in 1971, caused by mutations in the HRAS proto-oncogene. Clinical findings include facial dysmorphism, skin disorders, cognitive impairment, cardiac and musculoskeletal defects. There is an increased risk of malignancies in these patients, due to the proto-oncogene mutation, and also sudden death secondary to heart disease. We report a case with characteristic phenotype, highlighting the peculiar skin changes.
Amazonas Federal University, Manaus, AM, Brazil.
Isy Lima
IL
Peixoto
Amazonas Federal University, Manaus, AM, Brazil.
Ana Maria
AM
Carreno
Amazonas Federal University, Manaus, AM, Brazil.
Vania Mesquita Gadelha
VM
Prazeres
Amazonas Federal University, Manaus, AM, Brazil.
Caroline Albuquerque Rodrigues
CA
Chirano
Amazonas Federal University, Manaus, AM, Brazil.
Gabriel Maroja
GM
Ihara
Amazonas Federal University, Manaus, AM, Brazil.
Patricia Bandeira de Melo
PB
Akel
D056685:Costello Syndrome / Q000150:complications / Q000473:pathology* / Q000503:physiopathology; D019066:Facies; D005260:Female; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000473:pathology; D000090063:Proto-Oncogene Mas; D012868:Skin Abnormalities / Q000473:pathology*; D055815:Young Adult