Acta Dermato-Venereologica 99-7CompleteContent | Page 24

697 SHORT COMMUNICATION Hyper IgE Syndrome with Large Recurrent Head Abscesses Misdiagnosed as Folliculitis Puyu ZOU, Rui TANG, Pan CHEN, Xiangning QIU, Guiying ZHANG, Yi ZHAN* and Rong XIAO* Department of Dermatology, The Second Xiangya Hospital, Central South University, Changsha, 410011, Hunan, China. *E-mails: xiaorong65@ csu.edu.cn, [email protected] Accepted Mar 21, 2019: E-published Mar 21, 2019 Hyper IgE syndrome (HIES) is a rare primary immuno- deficiency disease. Most cases of HIES occur early in life. Nondescript symptoms lead to either misdiagnosis or a delay in diagnosis. We report a case of a child with hyper IgE syndrome who initially presented with recur- rent head abscesses and was misdiagnosed as suffering from “folliculitis”. CASE PRESENTATION A 5-year-old child was admitted to our hospital with a 4-year history of recurrent head abscesses and aggravation for 1 month. He had been clinically diagnosed with folliculitis and treated with antibiotics, with minimal relief. One month prior to admission, his condition had taken a turn for the worse when several scattered cold abscesses each grew to the size of a fist (Fig. 1a). Further questio- ning revealed that the patient had a past medical history of repeated eczema, frequent upper respiratory infections (> 10 times/year), and one hospitalization due to supposed septicemia. He had no family history of HIES or any other immunodeficiency disease. There was a characteristic appearance with forehead carina, widely-spaced eyes, and a broad nasal ridge. Other significant physical findings included residual root and tooth defects of the deciduous teeth in the upper and lower jaw, as well as mild lumbar scoliosis (Fig. 1b, c). Laboratory analysis revealed serum IgE levels > 6,000 ng/ml (0–691.4 ng/ml), with an ESR of 29 mm/h (0–15 mm/h) and C-reactive protein of 6.13 mg/l (0–3 mg/l). Routine blood tests revealed a white blood cell count of 14.47 × 10 9 /l (5.0–12.0 × 10 9 /l), a neutrophil count of 8.07 × 10 9 /l (1.8–6.3 ×10 9 /l), an eosinophil count of 1.88 × 10 9 /l (0.02–0.52 × 10 9 /l), and an eosinophil ratio of 13.00% (0.5–5.0 × 10 9 /l). Staphylococcus aureus was detected in the patient’s abscesses. The lumbar plains showed slight scoliosis and the oral plains suggested a high arched palate. The patholo- gical section showed that mixed inflammatory cells, including eosinophils and neutrophils, had infiltrated into the subcutaneous tissue, with associated abscess formation, PAS (–) (Fig. 2a). Urine routine, stool routine, chest X-ray, bone density, and T-cell subsets were all within normal limits. In 1999, the National Institutes of Health established HIES diag- nostic criteria (1) (Table I). In this case, clinical evidence, together Fig. 2. Pathologic section: mixed inflammatory cells including eosinophils and neutrophils that had infiltrated into the subcutaneous tissue, with associated abscess formation (hematoxylin–eosin; original magnification: a) × 40; b) × 200). with laboratory and histopathological findings, clearly indicated a diagnosis of hyper IgE syndrome (total score: 42 points; see Table I). Significant improvement was noted in the patient following vancomycin and fusidic acid ointment as systematic and topical treatments, respectively. DISCUSSION HIES is a rare disease, with an annual incidence ranging from 1 in 500,000 to 1 in 100,000 (2). There are 2 dis- tinct forms of HIES: Type 1, autosomal-dominant HIES (AD-HIES), is negatively correlated with mutations in STAT3, which is the most prevalent mutation described and accounts for the majority of HIES cases; Type 2, au- tosomal-recessive HIES (AR-HIES), is mainly caused by dysregulation in DOCK8, TYK2, PGM3, and SPINK5 (3). HIES is a multisystem disorder associated with varied clinical manifestations. An eczematoid rash is usually the initial clinical manifestation of HIES, generally starting on the scalp and face (4). Recurrent skin infection with S. aureus results in “cold” abscesses lacking the usual features of warmth and erythema, and is a nearly universal feature of HIES. Sinopulmonary infections caused by S. aureus are also common in HIES. A total of 97% of patients have serum IgE > 2,000 ng/ml, and 83% of HIES patients exhibit typical facial features that include a prominent forehead, facial asymmetry, sunken eyes, broad nasal ridge and fleshy nose, prognathism, and craniosynostosis. Fig. 1. a. Fist-sized abscesses; b. Forehead carina, widely-spaced eyes, broad nasal Approximately 65% of HIES patients have mus- bridge; c. Residual root and tooth defects of deciduous teeth in the upper and lower jaw. This is an open access article under the CC BY-NC license. www.medicaljournals.se/acta Journal Compilation © 2019 Acta Dermato-Venereologica. doi: 10.2340/00015555-3182 Acta Derm Venereol 2019; 99: 697–698