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Cutaneous Manifestations in Costello and Cardiofaciocutaneous Syndrome: Report of 18 Cases and Literature Review

Authors

  • Fanny Morice-Picard M.D.,

    Corresponding author
    1. Pediatric Dermatology Unit, Department of Dermatology, National Reference Centre for Rare Skin Disorders, Bordeaux, France
    2. Department of Clinical Genetics, Bordeaux Children's Hospital, CHU de Bordeaux, Bordeaux, France
    • Address correspondence to Fanny Morice-Picard, M.D., Unité de dermatologie pédiatrique, Service de Génétique médicale, Hôpital Pellegrin-Enfants, Place Amélie Raba-Léon, F-33076 Bordeaux Cedex, France, or e-mail: fanny.morice-picard@chu-bordeaux.fr.

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  • Khaled Ezzedine M.D., Ph.D.,

    1. Pediatric Dermatology Unit, Department of Dermatology, National Reference Centre for Rare Skin Disorders, Bordeaux, France
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  • Marie-Ange Delrue M.D.,

    1. Department of Clinical Genetics, Bordeaux Children's Hospital, CHU de Bordeaux, Bordeaux, France
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  • Benoit Arveiler M.D., Ph.D.,

    1. Department of Clinical Genetics, Bordeaux Children's Hospital, CHU de Bordeaux, Bordeaux, France
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  • Patricia Fergelot M.D., Ph.D.,

    1. Department of Clinical Genetics, Bordeaux Children's Hospital, CHU de Bordeaux, Bordeaux, France
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  • Alain Taïeb M.D., Ph.D.,

    1. Pediatric Dermatology Unit, Department of Dermatology, National Reference Centre for Rare Skin Disorders, Bordeaux, France
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  • Didier Lacombe M.D., Ph.D.,

    1. Department of Clinical Genetics, Bordeaux Children's Hospital, CHU de Bordeaux, Bordeaux, France
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  • Franck Boralevi M.D., Ph.D.

    1. Pediatric Dermatology Unit, Department of Dermatology, National Reference Centre for Rare Skin Disorders, Bordeaux, France
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Abstract

Costello syndrome (CS) and cardiofaciocutaneous syndrome (CFCS) are congenital disorders involving the Ras-MAPK pathway with phenotypic overlap. These two entities are thought to share common cutaneous findings, although so far they have been poorly studied. The objective of this prospective observational study was to describe the spectrum of skin findings in CS and CFCS and to highlight those specific to each of these two diseases. Patients with a confirmed diagnosis of CFCS or CS underwent a systematic skin examination during the annual workshop organized by the French CS association in 2007 and 2009 in Bordeaux, France. Eighteen patients were included in the study. Specific skin abnormalities, including cutis laxa, curly hair, pruritus, and hyperhidrosis, are shared by CFCS and CS, whereas others may help to differentiate between these two syndromes. Acanthosis nigricans, papillomas, and loose thick skin of the dorsum of the hands are characteristic of CS, whereas sparse eyebrows and dry hyperkeratotic skin are suggestive of CFCS. Our results highlight that a systematic cutaneous examination, in addition to dysmorphologic and noncutaneous anomalies, may be helpful in establishing the diagnosis of CFCS and CS. The physiopathologic link between constitutional Ras-MAPK pathway activation and the observed ectodermal findings remains to be investigated.

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