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Severe neonatal‐onset panniculitis in a female infant with Prader–Willi syndrome
Author(s) -
Sakthivel Muthukumar,
Hughes Stephen M.,
Riley Phil,
Arkwright Peter D.,
Mukherjee Anindya,
Ramsden Simon,
Urquhart Jill,
Crow Yanick J.
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.34318
Subject(s) - panniculitis , medicine , pathogenesis , allele , pediatrics , pathology , genetics , biology , gene
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.