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Case Reports
. 2014 Nov-Dec;89(6):1005-6.
doi: 10.1590/abd1806-4841.20143062.

Syndrome in question. Costello syndrome

Isy Lima Peixoto  1 , Ana Maria Carreno  1 , Vania Mesquita Gadelha Prazeres  1 , Caroline Albuquerque Rodrigues Chirano  1 , Gabriel Maroja Ihara  1 , Patricia Bandeira de Melo Akel  1
Affiliations
Case Reports

Syndrome in question. Costello syndrome

Isy Lima Peixoto et al. An Bras Dermatol. 2014 Nov-Dec.

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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Conflict of interest statement

Conflict of Interests: None

Figures

FIGURE 1
FIGURE 1
Typical facies found on the syndrome in question. Note epicanthic fold, downward slant of palpebral fissure, wide nose, thickened earlobe, large lips, marked frontal pleats with aspect of redundant skin
FIGURE 2
FIGURE 2
Deep palmar lines and skin with soft and loose aspect
FIGURE 3
FIGURE 3
Plantar hyperkeratosis
See this image and copyright information in PMC

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References

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