The patient was a woman with a history of extensive dermatitis with facial involvement and scalp from the period of newborn to the age of 2 years, who then extended to the trunk and lower extremities, treated with topical and oral corticosteroids.
Since the age of 3 years SBO requiring salbutamol and at 5 years, inhaled corticosteroids were added.
At 6 years of hospitalization due to pneumonia (possible Mycoplasma).
Immunological tests revealed serum IgE of 4. UI/ml, with normal blood count and serum immunoglobulins.
She developed recurrent BOS, atopic dermatitis, and allergic rhinitis, which was managed with antiallergics, inhalants, and topical corticosteroids.
At 9 years he was operated of thyroglossal cyst without complications and had 1 pneumonia outpatient management.
Nine years later, AOM was treated with amoxicillin.
At the age of 13, she developed varicella over-infected, leaving psycotric lesions on her face, and comedodontic acne on her face.
To date, IgE levels are regularly monitored over 2000 IU/ml (normal range for age 0-90 IU/ml), with the rest of normal immunoglobulins.
None of the 3 cases had a family history suggestive of SHIGE, and although they had an autosomal dominant inheritance, it is common that the causal molecular defect occurs as a de novo 6 mutation.
Table 2 summarizes the most prominent characteristics of the 3 reported cases.
