Abstract Introduction. Celiac disease, or gluten-sensitive enteropathy, can be defined as a persistent intolerance of wheat gliadins and other cereal prolamines in the small intestinal mucosa of genetically susceptible individuals. The clinical picture of the disease can often be misleading because it varies greatly from patient to patient, resulting in delayed diagnosis.To analyze the clinical case of a child with celiac disease and acquired ichthyosis.Results. The disease, until a final diagnosis was established, had a severe course due to gastrointestinal and dermatological disorders. From the age of 1.5 years, the child had frequent diarrhea, bloating, which is why she was repeatedly hospitalized in the hospital at the place of residence. However, there was no effect from the ongoing therapeutic measures, and other symptoms such as vomiting, peripheral edema, deficiency of height and weight, and severe peeling of the skin joined in. The diagnosis was finally confirmed at the age of 2.5 years after the test for antibodies to tissue transglutaminase IgA (fifty-fold excess relative to the norm). A genetic study revealed alleles of genes responsible for predisposition to celiac disease. The results of a biopsy of the mucous membrane of the duodenum had signs of atrophy, lymphoid infiltration, corresponding to a lesion of the small intestine according to the classification Marsh III. Microscopic examination of the skin – hyperkeratosis with a decrease in the granular layer. On the basis of the obtained data, the diagnosis was made: Celiac disease, active phase, severe course, complicated by proteinenergy insufficiency severe degree, exudative enteropathy syndrome, 2 degree anemia, concomitant diagnosis: acquired ichthyosis. The girl was prescribed a gluten-free diet, and symptomatic drug therapy was carried out. In dynamics, the condition has improved. After 6 months, at the second visit, gastrointestinal and skin symptoms were absent, physical development was age-appropriate.Conclusions. The classic form of celiac disease usually manifests itself with several major symptoms, such as diarrhea, abdominal pain, weight loss, and nutritional deficiencies. In this article we wanted to talk about a rare combination of celiac disease with ichthyosis, therefore, practitioners should be wary of a combination of skin and gastrointestinal symptoms.
Recombinant Human Tissue Transglutaminase ELISA for the Diagnosis of Gluten-sensitive Enteropathy
