Cyclosporin treatment improves skin findings in omenn syndrome.
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.
Division of Pediatric Allergy and Immunology, Faculty of Medicine, Dokuz Eylul University, İzmir, Turkey.
Sule
S
Caglayan Sozmen
Sakine
S
Isik
Zeynep
Z
Arikan Ayyildiz
Kaan
K
Yildiz
Yasemin
Y
Cakır
Erdener
E
Ozer
Suna
S
Asilsoy
Nevin
N
Uzuner
Ozkan
O
Karaman
Ozden
O
Anal
D000015:Abnormalities, Multiple / Q000175:diagnosis; D000284:Administration, Oral; D016572:Cyclosporine / Q000627:therapeutic use*; D003873:Dermatitis, Exfoliative / Q000188:drug therapy* / Q000209:etiology / Q000503:physiopathology; D018450:Disease Progression; D004305:Dose-Response Relationship, Drug; D004334:Drug Administration Schedule; D017809:Fatal Outcome; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007223:Infant; D009102:Multiple Organ Failure; D012008:Recurrence; D018570:Risk Assessment; D018805:Sepsis / Q000175:diagnosis / Q000209:etiology; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis* / Q000188:drug therapy*; D012720:Severity of Illness Index; D014850:Waiting Lists
D016572:Cyclosporine