Hyper IgE syndrome (Job syndrome) in Syria: a case report
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Hyper IgE syndrome (HIES) is a rare hereditary primary immunodeficiency. It is characterized by a classical triad of high immunoglobulin E (IgE) levels, recurrent pneumonia with pneumatocele and recurrent cold skin abscesses from staphylococcus infections. Patients also suffer from chronic candidiasis and have ophthalmic manifestations such as conjunctivitis, spontaneous corneal perforation and strabismus.

A 17-year-old male came with swollen left knee and forefinger. He previously had diagnosed with multiple cold abscesses. The patient also had itchy eczematous and desquamating eruptions on the trunk and scalp around the age of six months. Atopic dermatitis was subsequently diagnosed and managed conservatively.

By the age of two, the patient had a pea-sized lateral abscess in the neck that reached the size of a golf ball in one year. It was managed by antibiotics and drainage with culture yielding Staphylococcus aureus. Afterwards around the age of five, an abscess was formed on the scalp behind the ear. By the age of six, an abscess was formed on the skin on the right parotid gland. By the age of ten, an abscess was formed in the groin extending to the right scrotum. Around the age of 12, an abscess was formed on the lateral side of the left thigh, and the knee was also swollen. Finally by the age of 14, the patient had a swollen left forefinger. The histopathology revealed a xanthoma in the scalp and xanthogranuloma with abscess formation in the salivary gland with no malignant or tuberculosis features.

On examination, the current swelling on the knee and forefinger were solid, non-tender and not warm to touch. The patient had minor desquamating and peeling skin over the soles and palms. He had a broad nasal bridge, a depressive asymmetric face, a mild prognathism and coarse features.

Serum protein electrophoresis showed a high gamma protein level, with low alpha 1 and albumin levels. Knee and finger X-rays revealed an enlargement of soft tissue with intact bones. Knee MRI showed a subcutaneous loculated effusion, and hematomas in the sub- and supra-patellar and the popliteal fossa. MRI of the neck demonstrated an elliptical segmented lesion with thick walls in the right parapharyngeal space that measured 5?×?6?×?8 cm, which was suggestive of an abscess.

Source: https://academic.oup.com/omcr/article/2020/11/omaa106/5999209