CASE REPORT OF A CHILD WITH HARLEQUIN ICHTHYOSIS, PROBABLE EOSINOPHILIC ESOPHAGITIS, AND MILD HYPOGAMMAGLOBULINEMIA

Abstract

Introduction Harlequin ichthyosis (HI) is an often-fatal autosomal recessive congenital ichthyosis, due to mutations in the ABCA12 gene resulting in a skin barrier defect. We report the first known case of HI with probable eosinophilic esophagitis (EoE) and second report of HI with hypogammaglobulinemia. Case Description A 36-week gestation boy was diagnosed with HI, respiratory distress, and feeding difficulty after birth. At 6 weeks of age, he developed chronic emesis on a milk-based formula requiring gastric tube placement; it persisted despite elemental formula feeds and omeprazole treatment. At 19 months of age, after some food introduction, he developed emesis and sensory feeding issues. At 22 months of age, he underwent esophagogastroduodenoscopy (EGD) showing 12 eosinophils/high power field on esophageal biopsy. At 23 months of age, IgE sensitization to multiple food and some inhalant allergens was noted. He was started on swallowed budesonide and a six-food elimination diet. Repeat EGD with esophageal biopsy after 3 months showed no esophageal eosinophils. His emesis improved, but sensory feeding issues continued. Swallowed budesonide was stopped and an elimination diet for cow's milk and soy was continued. Mild hypogammaglobulinemia (low IgG and IgM, elevated IgE) with normal post-vaccination antibody responses was noted without an infection history. Discussion We report the first known child with HI and probable EoE, and the second with HI and hypogammaglobulinemia. Epithelial barrier defects occur with HI and EoE, perhaps linking the disorders. IgE food sensitization is associated with skin barrier defects, another possible link.