Syndrome in question

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...

Full description

Bibliographic Details
Published in:Anais Brasileiros de Dermatologia
Main Authors: Isy Lima Peixoto, Ana Maria Carreno, Vania Mesquita Gadelha Prazeres, Caroline Albuquerque Rodrigues Chirano, Gabriel Maroja Ihara, Patricia Bandeira de Melo Akel
Format: Article
Language:English
Published: Sociedade Brasileira de Dermatologia 2014-12-01
Subjects:
Costello syndrome
Genes, ras
Proto-oncogenes
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962014000601005&tlng=en
Description
Summary: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.
ISSN:0365-0596

Similar Items