Rare Diseases Symptoms Automatic Extraction

Gastroesophageal reflux disease accompanying urticaria pigmentosa.

[cutaneous mastocytosis]

A few case reports have only been published to date, which show the possible link between mastocytosis and gastroesophageal reflux disease (GERD). Here, we present a 17-month-old boy with urticaria pigmentosa who also suffered from GERD. First skin lesions accompanied by gastrointestinal symptoms (regurgitations, appetite worsening) were noticed at the age of four months. At that time, they were misdiagnosed as symptoms of cow's milk allergy. Despite the cow's milk-free diet, the skin and gastrointestinal symptoms slowly worsened and the patient was referred to us for further diagnostics several months later. Based on the clinical presentation of skin lesions, presence of pruritus and positive Darier's sign, cutaneous mastocytosis was diagnosed; 24-hour pH-metry revealed an increased number of acidic refluxes and biopsy of duodenal mucosa showed numerous mast cells. Taking into account these findings, the gastrointestinal symptoms were supposed to be a manifestation of mastocytosis. Treatment with sodium cromoglycate, cetirizine, ranitidine and probiotics resulted in pruritus alleviation, improvement of appetite and sleeping as well as increase of body weight.