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Exfoliative erythroderma, recurrent infections, generalized lymphadenopathy and hepatosplenomegaly in a newborn: Omenn syndrome.

Omenn syndrome is characterized by a generalized erythematous skin rash, lymph node enlargement, hepatosplenomegaly, increased serum IgE levels and evidence of combined immune deficiency. We describe a newborn boy who presented with exfoliative erythroderma and was found to have Omenn syndrome. On admission the patient was 5 days old. He had scaly skin and respiratory distress. His birth had been a normal vaginal delivery at his parents home in the 39th gestational week with no complications. According to the history obtained from his parents, he had experienced an episode of cyanosis within a few hours after delivery. The parents were first cousins (their mothers were sisters), but their medical histories were otherwise unremarkable. On physical examination, the patient s general condition was poor. He had respiratory distress, diffuse exfoliative erythroderma, lymphadenopathy, hepatosplenomegaly and alopecia (absence of eyelashes and eyebrows) (Fig. 1). Chest X-ray showed infiltration bilaterally, and no thymus shadow was visible. The blood smear was normal except for hypereosinophilia (26%). Serum immunoglobulin levels were low for his age group, except for IgE, which was normal. Flow cytometric analysis of lymphocytes revealed high T-lymphocyte levels and low B-lymphocyte levels. Coagulase-negative staphylococci were cultured from blood and cerebrospinal fluid. A diagnosis of sepsis was made, and broad-spectrum antibiotics and intravenous immunoglobulin were started. We suspected an immune deficiency syndrome given the severe sepsis and skin findings. In light of the physical examination and laboratory findings the diagnosis of Omenn syndrome was made. The patient s clinical condition, including skin findings and infection, progressively improved after the start of treatment. On postnatal day 24 he was referred to another centre for bone marrow transplantation. After two recurrences of sepsis, he died 2 months after discharge from our hospital. The parents are considering the possibility of another pregnancy, and because of the autosomal recessive nature of Omenn syndrome we have referred them to genetic counselling. Omenn syndrome is a rare form of severe combined immunodeficiency, first described in 1965. It is characterized by exfoliative erythroderma, recurrent infections, generalized lymphadenopathy, hepatosplenomegaly, hypogammaglobulinaemia, lymphocytosis and eosinophilia. Mortality and morbidity are high in patients with Omenn syndrome, and the only effective treatment is allogenic bone marrow transplantation. In Omenn syndrome, T-cell levels are elevated while B-cell levels are decreased, and this may be due to a defect in the recombination activating genes RAG1 or RAG2. It appears that these mutations reduce the capacity of the modified proteins to properly initiate T-cell receptor/B-cell receptor gene rearrangements. Antigenic triggering of these poorly regulated immature T-lymphocyte clones seems to favour secretion of cytokines of the Th2 type (interleukins 4,5,10) as well as activated lymphocytes of the memory phenotype. Excess production of the Th2 cytokines by these clones could also explain the eosinophilia and increased IgE production and possibly the clinical picture. Clinical and laboratory findings in our patient are consistent with those of reported cases of Omenn syndrome, except for our patient s normal levels of serum IgE. However, cases of Omenn syndrome without elevated IgE have been described. In newborns and infants, conditions that might be confused with Omenn syndrome include collodion baby, atopic dermatitis, seborrhoeic dermatitis, psoriasis, ichthyosis, Netherton syndrome, Sjögren–Larsson syndrome, maternal or fetal graft versus host syndrome, IgA deficiency and severe combined immune deficiencies other than Omenn syndrome. In conclusion, Omenn syndrome is a rare but curable disease of the newborn. As the most evident manifestation of the disease is exfoliative erythroderma, dermatologists may have the opportunity to provide early diagnosis, which can be life-saving.