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Table 1 Clinical features of atopy in the index: The atopic conditions presented in the index patient (III-4) and notes on their management are described

From: Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy

Condition

Manifestation

Management

Atopic dermatitis

Onset in the first few months of life, challenging to manage with multiple flares over the years

Chronic use of varying potency topical steroids combined with oral antibiotics for recurrent episodes of group A streptococcal impetigo

Eosinophilic esophagitis

Diagnosed at 3yo based on difficulty tolerating solid food and repeated vomiting combined with multiple upper GI biopsies repeatedly showing active esophagitis with increased intraepithelial eosinophils

Avoidance of foods with documented IgE sensitization (cow's milk, egg, peanut, and peas), use of an elemental formula, and ultimately the need for oral viscous budesonide combined with a proton pump inhibitor

Asthma

Diagnosed at 3yo requiring 3 hospital admissions, multiple emergency room visits and repeated courses of oral corticosteroids

Responsive to a maintenance controller combination of regular inhaled corticosteroids and montelukast with inhaled salbutamol used occasionally as a reliever. Recommended avoidance of environmental allergens where IgE sensitization was documented (tree, grass, and weed pollen, mold, cat, dog, and dust mite)

Food allergy

Diagnosed at 1yo on the basis of a history of anaphylactic reactions following exposure combined with positive epicutaneous testing to cow's milk, egg, peanut, and peas

Strict avoidance and ensuring availability of an epinephrine autoinjector. Attempted food challenges were difficult to interpret due to the severity of his skin inflammation

Allergic rhinoconjunctivitis

Classic symptoms and signs combined with positive epicutaneous testing to tree, grass, and weed pollen, mold, cat, dog, and dust mite

Recommended avoidance of environmental allergens where IgE sensitization was documented (tree, grass, and weed pollen, mold, cat, dog, and dust mite). Nasal corticosteroid sprays and oral non-sedating antihistamine