title: Severe neonatal-onset panniculitis in a female infant with Prader-Willi syndrome.
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.
authors: Department of Genetic Medicine, Central Manchester Foundation Trust University Hospitals, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK.
authors: Muthukumar
authors: M
authors: Sakthivel
authors: Stephen M
authors: SM
authors: Hughes
authors: Phil
authors: P
authors: Riley
authors: Peter D
authors: PD
authors: Arkwright
authors: Anindya
authors: A
authors: Mukherjee
authors: Simon
authors: S
authors: Ramsden
authors: Jill
authors: J
authors: Urquhart
authors: Yanick J
authors: YJ
authors: Crow
mesh_terms: D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D017809:Fatal Outcome; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D015434:Panniculitis / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D011218:Prader-Willi Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D012867:Skin / Q000473:pathology