Document Detail


Omenn syndrome: a rare case of neonatal erythroderma.
MedLine Citation:
PMID:  17337397     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Omenn syndrome is a severe combined immunodeficiency characterized by erythroderma, hepatosplenomegaly, lymphadenopathy and failure to thrive, with activated oligoclonal T lymphocytes and an absence of circulating B cells.A 3 day-old boy presented with a congenital erythroderma. Investigations revealed a marked neutropenia and lymphopenia and the absence of a thymus. Genetic studies showed RAG 1 mutations. He was successfully treated with an HLA identical bone marrow transplantation. Omenn syndrome is a rare severe combined immunodeficiency. Most cases are due to mutations in the RAG genes with autosomal recessive transmission. Our observation is original because of an incomplete clinical presentation. During the course of the disease, the child had no failure to thrive, no organomegaly and no recurrent infection. Immunodeficiency must be excluded in every case of neonatal erythroderma and an immunological assessment should be performed without delay.
Authors:
E Puzenat; P Rohrlich; P Thierry; P Girardin; M Taghian; M Ouachee; E Plouvier; A Fischer; P Humbert; F Aubin
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2007-03-02
Journal Detail:
Title:  European journal of dermatology : EJD     Volume:  17     ISSN:  1167-1122     ISO Abbreviation:  Eur J Dermatol     Publication Date:    2007 Mar-Apr
Date Detail:
Created Date:  2007-03-15     Completed Date:  2007-05-31     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9206420     Medline TA:  Eur J Dermatol     Country:  France    
Other Details:
Languages:  eng     Pagination:  137-9     Citation Subset:  IM    
Affiliation:
Department of Dermatology, University Hospital, 25030 Besançon cedex, France. e1puzenat@chu-besancon.fr
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MeSH Terms
Descriptor/Qualifier:
Bone Marrow Transplantation
Child, Preschool
Dermatitis, Exfoliative / blood,  diagnosis*,  pathology,  therapy
Diagnosis, Differential
Humans
Male
Pedigree
Severe Combined Immunodeficiency / blood,  diagnosis*,  pathology,  therapy

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