OMENN DISEASE
 
PEDBASE.org - The Pediatric Database - Detailed information of OMENN DISEASE
 

OMENN DISEASE

 

DEFINITION:

An immunodeficiency disorder of both T- and B-cells characterized by recurrent infections, typical skin eruptions, and eosinophilia.

EPIDEMIOLOGY:

  • incidence: rare
  • age of onset:
    • ?
  • risk factors:
    • familial - autosomal recessive
      • chrom.#: ?
      • gene: ?

PATHOGENESIS:

1. Background

  • considered a variant of severe combined immunodeficiency disease (SCID) and in this type, the skin eruptions are similar to those seen in Letterer-Siwe Syndrome (which is characterized by a severe seborrhea and characteristic histiocytic infiltration)

2. Genetic Defect

  • genetic defect -> ? deficiency of ectoenzyme 5'-nucleotidase

CLINICAL FEATURES:

1. Immunodeficiency Manifestations

1. Recurrent and Severe Infections

1. Respiratory

  • pneumocystis pneumonia (common presenting symptom)

2. Gastrointestinal

  • chronic diarrhea
  • hepatomegaly/hepatosplenomegaly
  • easily palpable lymph nodes
  • failure to thrive

2. Cutaneous Manifestations

1. Chronic Skin Eruptions

  • erythematous maculopapular, seborrheic, and/or scaly
  • may represent manifestation of a chronic graft vs host disease

INVESTIGATIONS:

1. Serum

1. Humoral-Mediated

  • marked eosinophilia and elevated IgE
  • hypogammaglobulinemia
  • ? normal lymphocyte function tests

2. Cell-Mediated

  • normal T-cell number but decreased function

2. Biopsy

  • histiocytic infiltration of lymph nodes with depletion of lympho-cytes
  • effaced lymphoid tissue

MANAGEMENT:

1. Bone Marrow Transplantation

  • treatment of choice

 

 

 

 

 

Pediatric Database - OMENN DISEASE

 

Pediatric Organization - Pedbase [at] Gmail.com

 
1994 -2007 Pedbase.org 

Powered by Database of Pediatrics- OMENN DISEASE