Cyclosporin treatment improves skin findings in omenn syndrome.

Abstract

Omenn syndrome is a combined immunodeficiency characterized by a generalized erythematous skin rash, enlarged lymph nodes, hepatosplenomegaly, severe susceptibility to infections, eosinophilia, and hyperimmunoglobulinemia E. A 3-month-old girl was admitted to our hospital with a history of recurrent sepsis. Physical examination revealed severe erythroderma, hepatosplenomegaly, lymphadenopathy, and failure to thrive. Laboratory findings revealed leukocytosis, lymphocytosis with high CD3 T-cells, a high CD4:CD8 ratio, absence of CD19 B-cells, high eosinophil count, and low immunoglobulin levels. A heterozygote RAG1 gene mutation was found. She had itchy, scaling, ichthyosiform erythroderma and protracted diarrhea. Cyclosporin treatment up to 10 mg/kg effectively resolved erythroderma and lowered total eosinophil counts, and she gained weight during treatment. Since extensive erythroderma with generalized itching causes patient discomfort in Omenn syndrome, cyclosporin treatment can be considered while waiting for treatment with hematopoietic stem cell transplantation.

• Authors: Sule Caglayan Sozmen, Sakine Isik, Zeynep Arikan Ayyildiz, Kaan Yildiz, Yasemin Cakır, Erdener Ozer, Suna Asilsoy, Nevin Uzuner, Ozkan Karaman, Ozden Anal
• Journal: Pediatric dermatology (Pediatr Dermatol) 2015 Mar-Apr Vol. 32 Issue 2 Pg. e54-7 ISSN: 1525-1470 [Electronic] United States
• PMID: 25727345 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2015 Wiley Periodicals, Inc.

Chemical References

• Cyclosporine

Topics

• Abnormalities, Multiple (diagnosis)
• Administration, Oral
• Cyclosporine (therapeutic use)
• Dermatitis, Exfoliative (drug therapy, etiology, physiopathology)
• Disease Progression
• Dose-Response Relationship, Drug
• Drug Administration Schedule
• Fatal Outcome
• Female
• Hematopoietic Stem Cell Transplantation
• Humans
• Infant
• Multiple Organ Failure
• Recurrence
• Risk Assessment
• Sepsis (diagnosis, etiology)
• Severe Combined Immunodeficiency (diagnosis, drug therapy)
• Severity of Illness Index
• Waiting Lists