Cyclosporin Treatment Improves Skin Findings in Omenn Syndrome

• DOI: 10.1111/pde.12522
• Publication Date: 2015-02-26T07:00:10Z
• Authors: Sule Caglayan Sozmen; Sakine Isik; Zeynep Arikan Ayy...; Kaan Yildiz; Yasemin Cakır; Erdener Ozer; Suna Asilsoy; Nevin Uzuner; Ozkan Karaman; Ozden Anal
• Keywords: Erythroderma; Hepatosplenomegaly; Lymphocytosis; Skin biopsy; Leukocytosis

Abstract Omenn syndrome is a combined immunodeficiency characterized by generalized erythematous skin rash, enlarged lymph nodes, hepatosplenomegaly, severe susceptibility to infections, eosinophilia, and hyperimmunoglobulinemia E. A 3‐month‐old girl was admitted our hospital with history of recurrent sepsis. Physical examination revealed erythroderma, lymphadenopathy, failure thrive. Laboratory findings leukocytosis, lymphocytosis high CD 3 T‐cells, 4: 8 ratio, absence 19 B‐cells, eosinophil count, low immunoglobulin levels. heterozygote RAG1 gene mutation found. She had itchy, scaling, ichthyosiform erythroderma protracted diarrhea. Cyclosporin treatment up 10 mg/kg effectively resolved lowered total counts, she gained weight during treatment. Since extensive itching causes patient discomfort in syndrome, cyclosporin can be considered while waiting for hematopoietic stem cell transplantation.