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Crouzon syndrome with acanthosis nigricans: a case-based update

  • Case-Based Update
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Abstract

Background

Crouzon syndrome with acanthosis nigricans also named Crouzono-dermo-skeletal is a clinically and genetically distinct entity. It associates a craniofacial phenotype to anomalies of the skin and long bones. This syndrome is due to a specific mutation in FGFR3 gene that can be identified by genetic testing.

Illustrative cases

As in our two patients, not all these features might be present and some will be patent only in the infancy or early childhood. Moreover, other organs such as the kidneys might be affected.

Discussion

Because several organs might be affected the recognition of such syndrome is important for a correct management of the patient as well as a proper information and genetic counseling of the families.

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Authors and Affiliations

  1. Unité de Chirurgie Craniofaciale, Neurochirurgie Pédiatrique Hôpital Necker Enfants Malades, Centre de Référence Maladies rares Dysostoses Craniofaciales, 149 rue de Sèvres, 75015, Paris, France

    Federico Di Rocco, Eric Arnaud & Dominique Renier

  2. Service de Biochimie et de Biologie Moléculaire, Hôpital Lariboisière, Paris, France

    Corinne Collet

  3. INSERM U781, Hôpital Necker Enfants Malades, Université Paris Descartes, Paris, France

    Laurence Legeai-Mallet & Martine Le Merrer

  4. Service de Dermatologie, Centre de référence des Maladies Génétiques à Expression Cutanée (MAGEC), Hôpital Necker Enfants Malades, Université Paris Descartes, Paris, France

    Smail Hadj-Rabia

Authors
  1. Federico Di Rocco
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  2. Corinne Collet
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  3. Laurence Legeai-Mallet
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  4. Eric Arnaud
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  5. Martine Le Merrer
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  6. Smail Hadj-Rabia
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  7. Dominique Renier
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Correspondence to Federico Di Rocco.

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Di Rocco, F., Collet, C., Legeai-Mallet, L. et al. Crouzon syndrome with acanthosis nigricans: a case-based update. Childs Nerv Syst 27, 349–354 (2011). https://doi.org/10.1007/s00381-010-1347-z

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  • DOI: https://doi.org/10.1007/s00381-010-1347-z

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