Abstract
A case of hyperimmunoglobulinemia E syndrome with craniosynostosis is reported. A 2-year-old boy presented with erythemas, pustules and paplues on the head, face, trunk and extremities for 1 year and aggravated for 2 weeks. Laboratory and auxiliary examinations showed a high level of IgE (>2000 IU/L), and head CT scan indicated scaphocephaly (sagittal suture, squamous temporal suture and herringbone stitch fused prematurely). Clinical data and peripheral blood samples were collected from the patient and his parents. The mutation of STAT3 gene was not found in the patient by DNA sequencing. The diagnosis of hyperimmunoglobulinemia F. syndrome with craniosynostosis was made.
| Original language | English |
|---|---|
| Pages (from-to) | 439-442 |
| Number of pages | 4 |
| Journal | Journal of Clinical Dermatology |
| Volume | 44 |
| Issue number | 7 |
| State | Published - 5 Jul 2015 |
Keywords
- Craniosynostosis
- Hyperimmunoglobulinemia E syndrome