Atopic dermatitis, short stature, skeletal malformations, hyperimmunoglobulin E syndrome, hypereosinophilia and recurrent infections: a case report

特应性皮炎、身材矮小、骨骼畸形、高免疫球蛋白E综合征、嗜酸性粒细胞增多症和反复感染:病例报告

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Abstract

INTRODUCTION: We report an interesting clinical case which could represent a new syndrome never described previously in the literature. CASE PRESENTATION: A 15-year-old Caucasian boy presented to our institution with recurrent respiratory infections, severe atopic dermatitis, short stature and skeletal malformations. Laboratory tests showed a high level of immunoglobulin E, hypereosinophilia with a normal white blood cell count and a low level of somatomedin C. The patient had had atopic dermatitis resistant to treatment since the age of 6 months. His height did not increase despite receiving cyclic therapy with recombinant growth hormone. CONCLUSION: We hypothesized the presence of several diseases not confirmed by any genetic tests. Our patient could have an unknown disease. Further research is needed to identify this possible new syndrome.

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