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Syndrome in question. Costello syndrome.

Peixoto IL, Carreno AM, Prazeres VM, Chirano CA, Ihara GM, Akel PB - An Bras Dermatol (2014 Nov-Dec)

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Amazonas Federal University, Manaus, AM, Brazil.

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.

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Related in: MedlinePlus

Deep palmar lines and skin with soft and loose aspect
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f02: Deep palmar lines and skin with soft and loose aspect


Syndrome in question. Costello syndrome.

Peixoto IL, Carreno AM, Prazeres VM, Chirano CA, Ihara GM, Akel PB - An Bras Dermatol (2014 Nov-Dec)

Deep palmar lines and skin with soft and loose aspect
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4230678&req=5

f02: Deep palmar lines and skin with soft and loose aspect
Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Amazonas Federal University, Manaus, AM, Brazil.

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.

Show MeSH
Related in: MedlinePlus