Syndrome in question
An. bras. dermatol
; 89(6): 1005-1006, Nov-Dec/2014. graf
Article
in En
| LILACS
| ID: lil-727653
Responsible library:
BR1.1
ABSTRACT
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.
Key words
Full text:
1
Index:
LILACS
Main subject:
Skin Abnormalities
/
Costello Syndrome
Limits:
Female
/
Humans
Language:
En
Journal:
An. bras. dermatol
Journal subject:
DERMATOLOGIA
Year:
2014
Type:
Article