A child case of hyper‐IgE syndrome

Abstract

Hyper-IgE syndrome (HIES) is a rare and complex primary immunodeficiency disorder characterized by recurrent staphylococcal infection of the skin and lung, chronic eczema/atopic dermatitis, defective granulocyte chemotaxis and markedly high serum IgE level (1–3). We report the case of a 10-year-old girl with generalized molluscum contagiosum, oral candidiasis and pneumonia. She suffered from multiple episodes of generalized papules and pruritic eczematous lesions, recurrent infections since her early childhood. Physical examination showed numerous sessile, dome-shaped, umbilicated, flesh-colored to dull red and mildly tender nodules on her scalp, face, trunk and perinaeum, gluteal areas, varying in size from 5 mm to more than 2 cm (Fig. 1). Craniofacial features included a broad nasal bridge, bulky nasal tip and rough facial skin. Intra-oral examination revealed 10 deciduous teeth, gingival hypertrophy, irregular and carious teeth. Mycotic infections of nails are apparent. Marked growth retardation (height 120 cm, weight 22 kg) was noticed. There was no evidence of scoliosis or hyperextensibility of joints. Serum IgE levels were determined by using UniCAP/Pharmacia CAP System (Fully automated UniCAP(r) 100E Instrument. Phadia AB, Sweden.). Results showed the total serum IgE level was 5000 IU/ml (normal value 0–100 IU/ ml), but Phadiatop and fx5E were negative. Complete blood count yielded a white blood cell count of 10.34/ml with 73% of granulocytes, 5.4% of eosinophils. Although levels of immunoglobulins A and G were normal, the immunoglobulin M level was slightly low, at 0.535 g/l (normal, 0.63–2.77 g/l). Levels of CD3 was low at 55.1% and CD8 was low at 19.3% (normal, 20–35 g/l); CD4 and CD4/CD8 were within the normal range. Serum anti-HIV antibody detected by enzyme-linked immunosorbent assay was negative. Pathologic periodontal changes presented as inflammatory granuloma. Diagnosis of molluscum contagiosum was confirmed by pathohistology of her skin lesion. Chest radiographs showed pneumonia. Candida albicans was identified from culture of pseudomembranousc plaques in her oral cavity and finger nail. Dual-energy X-ray absorptiometry of the lumbar spine (L1-4) showed low bone mineral density (BMD 756 mg/cm; T-3.0, Z-1.3) which tells us she also had osteoporosis. Because a tendency toward osteoporosis and increased risk of spontaneous fractures has been reported (4), we measured bone density although the patients did not have a history of fractures. Markedly low bone density in relation to bone area (BMDa) has been found. We did not find hyperextensibility of joints or scoliosis, which have been found among as many as 68% and 76% of patients with hyper-IgE syndrome. Poor oral hygene, gingivitis, retention of teeth and prolonged exfoliation of deciduous teeth were detected in oral examination of this patient. We also confirmed the presence of typical facial features, such as a prominent forehead and broad nasal bridge in our patient. HIES has been classified into type 1 and type based on clinical and Hyper-IgE syndrome is not only an immunodeficiency but also is a multisystem disorder. ALLERGY Net