Autosomalny recesywny zespół hiper-IgE – opis rzadkiego przypadku

Hyper-IgE syndrome (HIES), also referred to as Job’s syndrome, is a rare immunodeficiency disorder characterized by eczema, recurrent infections and elevated IgE [1]. It is usually inherited in an autosomal dominant pattern, but a distinct subset with autosomal recessive inheritance has been observed.
We present a rare case of autosomal recessive HIES associated with pigmentation of oral mucosa and flexures, a feature never described in the literature to the best of our knowledge.
A two and a half year old female child presented to us with crusting over the face and flexures. The antenatal and birth history was uneventful. At 1 month of age, she developed red, oozing lesions over the face that healed with pigmentation. Such lesions occurred several times and subsided after unknown topical medications. The patient developed progressive darkening of oral mucosa and skin flexures from the age of 1 year. There was a history of recurrent skin infections, loose stools, ear discharge, breathing difficulty, fever and cough. The patient had developed varicella at the age of 6 months. She was born of a first degree consanguineous marriage. The patient had three sisters and one brother. The eldest sister and brother had a history of similar disease and died at the age of 3 years due to some ‘febrile illness of the brain’, according to the parents; the records were not available. Two siblings were normal.
On examination, the patient had a below average weight-for-age (76.9%) and normal height-for-age (87.7%). Lesions with yellow brown crusts and slight scaling were present over the forehead, neck, retroauricular creases, axillae and groin (figs. 1, 2). Crusts were particularly prominent near the lips (fig. 3). There was pigmentation of the bilateral axillae and groin (figs. 4, 5). Oral and buccal mucosae revealed diffuse violaceous pigmentation and candidiasis (fig. 3). Teeth were normal. The rest of the cutaneous examination showed no abnormality. Both the ears showed a yellowish brown discharge. The musculoskeletal examination was normal. There was no abnormality on neurological, pulmonary, cardiovascular and abdominal examination.
The patient was found to have an absolute eosinophil count of 1200 cells/mm3 and an extremely high serum IgE level of 4822 IU/ml. The stool examination was positive for Giardia lamblia and culture from the ear discharge showed Staphylococcus aureus. Chest radiograph was within normal limits. Based on the clinical...


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