![]() No scoliosis was noted, but the patient had a distinguished facies ( Fig. The patient had minor desquamating and peeling skin over the soles and palms. On examination, the current swelling on the knee and forefinger were solid, non-tender and not warm to touch ( Fig. The patient declared that he had normal teeth development and no ophthalmological symptoms. The histopathology revealed a xanthoma in the scalp and xanthogranuloma with abscess formation in the salivary gland with no malignant or tuberculosis features. Finally by the age of 14, the patient had a swollen left forefinger. Around the age of 12, an abscess that grew Staphylococcus aureus was formed on the lateral side of the left thigh, and the knee was also swollen. By the age of ten, an abscess was formed in the groin extending to the right scrotum. By the age of six, an abscess was formed on the skin on the right parotid gland. Afterwards around the age of five, an abscess was formed on the scalp behind the ear, which was also caused by Staphylococcus aureus. It was managed by antibiotics and drainage with culture yielding Staphylococcus aureus. 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. Atopic dermatitis was subsequently diagnosed and managed conservatively. The patient also had itchy eczematous and desquamating eruptions on the trunk and scalp around the age of six months. The child has consanguineous parents as they were first cousins. He previously had diagnosed with multiple cold abscesses. CASE REPORTĪ 17-year-old male came with swollen left knee and forefinger. These mutations may also exist in Syria as it neighbors Lebanon, and they both share a common background. ![]() HIES is caused by multiple gene defects, some of which are still being studied, and novel mutations were found in Lebanese families who had a few distinct features than typical HIES. While most cases of HIES are sporadic, some case can be familial with an autosomal dominant or recessive pattern. Patients also suffer from chronic candidiasis and have ophthalmic manifestations such as conjunctivitis, spontaneous corneal perforation and strabismus. 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. Hyper IgE syndrome (HIES) is a rare hereditary primary immunodeficiency. Hyper IgE Syndrome, Job syndrome, novel mutations, Syria, Symptoms INTRODUCTION ![]()
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