Form of severe combined immunodeficiency (SCID)
characterized by erythroderma, desquamation, chronic diarrhea, failure to
thrive, lymphadenopathy, and hepatosplenomegaly. Clinically, patients
develop fungal, bacterial, and viral infections typical of SCID.
Erythroderma and desquamation of the skin on the arms and hands of a
14-month-old patient with Omenn Syndrome.
Omenn syndrome can also affect the feet, as seen in this infant with
extensive desquamation of the skin.
Familial Reticuloendotheliosis Syndrome; Erythroderma Desquamation
Frequency in the United States is difficult to
ascertain; however, the prevalence of all forms of SCID is estimated to be
1:50,000 population. Although this disorder has been reported throughout the
world, it occurs mainly in North America and Europe.
Autosomal recessive transmission.
Immunodeficiency secondary to defective T
lymphocytes and lack of B cells. Treatment often includes steroids,
immunosuppressants, and interferon. This disease is uniformly fatal
without bone marrow transplantation. It could be caused by a defect in an
ectoenzyme 5′-nucleotidase. Lymphocytosis results from expansion of
an oligoclonal population of activated and antigen-stimulated T-helper type
2 (Th2) cells that produce elevated levels of interleukin (IL)-4) and IL-5.
The latter cytokines mediate eosinophilia and elevated immunoglobulin E
Diagnosis based on clinical and immunologic criteria,
including erythema, pachyderma, alopecia, failure to thrive, elevated T-cell
counts (in contrast to other SCIDs), increased IgE, eosinophilia, and DNA or
HLA typing confirming that T cells are of host origin.
Early presentation (approximately 4 months of age).
It is characterized by pulmonary infections, skin eruption (maculopapular rash and severe seborrhea
with histiocytic infiltration). Hepatosplenomegaly, lymphadenopathy,
diarrhea (66%), lung infections (41%), opportunistic infections
(23%), candidiasis (16%), fever (16%), sepsis (16%) have been reported.
Check blood counts, chest
radiograph, and fluid and electrolyte status must be obtained. All blood products should be
irradiated to prevent graft-versus-host disease transmission.
Aseptic technique. Use only irradiated
blood to prevent lethal graft-versus-host disease reaction. Consider the use of leukocyte
depletion filters. Temperature regulation and monitoring are mandatory.
Administration of preoperative
steroid must be considered. Any anesthetic medication resulting in histamine
release should be used judiciously.
Stephan JL: Severe combined immunodeficiency: A retrospective
single-center study of clinical presentation and outcome in 117 patients. J Pediatrics