Celiac Disease and Lamellar Ichthyosis. Case Study Analysis and Review of the Literature
; Department of Pediatrics “Sapienza” University of Rome
Patrizia D’Eufemia Mauro Celli Maurizio Mennini Laura Petrarca Anna Zambrano Monica Montuori Mauro La Pietra Margherita Bonamico
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Abstracts We describe a 5-year-old female affected by lamellar ichthyosis, diagnosed in the first month of life, who attended our pediatric clinic for Mycoplasma pneumoniae pneumonia. The evidence of severe osteoporosis with hyperparathyroidism secondary to malabsorption suggested the occurrence of celiac disease. Endoscopy with multiple duodenal biopsies revealed total villous atrophy. The child started a gluten-free diet, supported by oral calcium and vitamin D. After 1-year follow-up, the girl showed complete normalization of bone mineral density. The introduction of the gluten-free diet did not lead to lesion repair, but the child reported significant improvement of her quality of life.