Diagnosing Omenn syndrome
- Resource Type
- Authors
- Richard Parslew; Louise Cutts; Maeve Walsh; Karen Eustace; Arti Bakshi
- Source
- Pediatric dermatologyREFERENCES. 38(2)
- Subject
- medicine.medical_specialty
Erythroderma
Dermatology
Timely diagnosis
030207 dermatology & venereal diseases
03 medical and health sciences
0302 clinical medicine
RAG2
medicine
Humans
Immunodeficiency
Homeodomain Proteins
medicine.diagnostic_test
business.industry
Infant, Newborn
Syndrome
medicine.disease
Omenn syndrome
030220 oncology & carcinogenesis
Pediatrics, Perinatology and Child Health
Skin biopsy
Mutation
Severe Combined Immunodeficiency
business
Dermatitis, Exfoliative
- Language
- ISSN
- 1525-1470
Omenn syndrome is a rare combined immunodeficiency mostly associated with RAG1 and RAG2 mutations; the clinical manifestations are well-described and include neonatal erythroderma. Mortality due to opportunistic infections is a serious risk, and a timely diagnosis with a skin biopsy is an important part of the diagnostic workup. We wish to highlight key clinical features of Omenn syndrome and discuss the relevance of a skin biopsy.