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Severe neonatal-onset panniculitis in a female infant with Prader–Willi syndrome

Authors

  • Muthukumar Sakthivel,

    1. Department of Genetic Medicine, Central Manchester Foundation Trust University Hospitals, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK
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  • Stephen M. Hughes,

    1. Department of Paediatric Immunology, Central Manchester Foundation Trust University Hospitals, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK
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  • Phil Riley,

    1. Department of Paediatric Rheumatology, Central Manchester Foundation Trust University Hospitals, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK
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  • Peter D. Arkwright,

    1. Department of Paediatric Immunology, Central Manchester Foundation Trust University Hospitals, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK
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  • Anindya Mukherjee,

    1. Department of Paediatrics, Fairfield General Hospital, Bury, UK
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  • Simon Ramsden,

    1. Department of Genetic Medicine, Central Manchester Foundation Trust University Hospitals, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK
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  • Jill Urquhart,

    1. Department of Genetic Medicine, Central Manchester Foundation Trust University Hospitals, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK
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  • Yanick J. Crow

    Corresponding author
    1. Department of Genetic Medicine, Central Manchester Foundation Trust University Hospitals, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK
    • Professor, Genetic Medicine, 6th Floor, St Mary's Hospital, Oxford Road, Manchester M13 9WL, UK.
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  • How to Cite this Article: Sakthivel M, Hughes SM, Riley P, Arkwright PD, Mukherjee A, Ramsden S, Urquhart J, Crow YJ. 2011. Severe neonatal-onset panniculitis in a female infant with Prader–Willi syndrome. Am J Med Genet Part A 155: 3087–3089.

Abstract

The panniculitides are a group of heterogeneous inflammatory diseases involving the subcutaneous fat, the pathogenesis of which is poorly understood. Here, we report on a female infant with Prader–Willi syndrome who developed a systemic inflammatory disorder in the neonatal period demonstrating recurrent panniculitis as a prominent feature. This is the second report of an association between Prader–Willi syndrome and panniculitis. Such an association might be explained by the unmasking of a recessive allele as a consequence of hemizygosity, in the case of a 15q11 deletion, or homozygosity, in the case of maternal isodisomy. © 2011 Wiley Periodicals, Inc.

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