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

Muthukumar Sakthivel, Stephen M Hughes, Phil Riley, Peter D Arkwright, Anindya Mukherjee, Simon Ramsden, Jill Urquhart, Yanick J Crow

    Research output: Contribution to journalArticlepeer-review


    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.
    Original languageEnglish
    Pages (from-to)3087-3089
    Number of pages2
    JournalAmerican Journal of Medical Genetics. Part A
    Issue number12
    Publication statusPublished - Dec 2011


    • Panniculitis
    • Prader-Willi syndrome


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