Document Detail


Cryopyrin-associated periodic syndrome: an autoinflammatory disease manifested as neutrophilic urticarial dermatosis with additional perieccrine involvement.
MedLine Citation:
PMID:  21062341     Owner:  NLM     Status:  In-Process    
Abstract/OtherAbstract:
A female newborn presented with a congenital urticarial rash that consisted of fluctuating well-demarcated pink or pale reddish macules or slightly raised papules and plaques. In addition, purulent cerebrospinal fluid was present in the absence of evidence of congenital infection. Skin biopsy revealed a sparse infiltrate throughout the entire dermis, including the eccrine adventitia. The infiltrate was composed mostly of neutrophils, but rarely lymphocytes and eosinophils could also be seen. No vasculitis was present. Because of the presenting attributes, a diagnosis of cryopyrin-associated periodic syndrome (CAPS) was considered and the neonatal-onset multisystem inflammatory disorder (NOMID) that represents the most severe expression of the CAPS clinical spectrum was favored. Diagnosis was confirmed by identification of a mutation in the cold-induced autoinflammatory syndrome-1 gene and by an observed response to treatment with the interleukin-1 receptor antagonist anakinra. Both the clinical and histopathological findings of the presented case may represent a distinct entity within the spectrum of aseptic neutrophilic dermatitis. We refer to this spectrum as neutrophilic urticarial dermatosis (NUD), which may serve as a cutaneous marker of autoinflammation. NUD with perieccrine involvement should prompt consideration of CAPS, especially NOMID, in the context of neonatal multisystem disease.
Authors:
Athanassios Kolivras; Anne Theunis; Aline Ferster; Dan Lipsker; Ursula Sass; Anneliese Dussart; Josette André
Publication Detail:
Type:  Journal Article     Date:  2010-11-10
Journal Detail:
Title:  Journal of cutaneous pathology     Volume:  38     ISSN:  1600-0560     ISO Abbreviation:  J. Cutan. Pathol.     Publication Date:  2011 Feb 
Date Detail:
Created Date:  2010-12-23     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0425124     Medline TA:  J Cutan Pathol     Country:  Denmark    
Other Details:
Languages:  eng     Pagination:  202-8     Citation Subset:  IM    
Copyright Information:
Copyright © 2010 John Wiley & Sons A/S.
Affiliation:
Department of Dermatology and Dermatopathology, Brugmann, HUDERF and Saint-Pierre Hospitals, Université Libre de Bruxelles, Brussels, Belgium. kolivras@gmail.com
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