title: Celiac disease and lamellar ichthyosis. Case study analysis and review of the literature.
abstract: 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.
authors.affiliation: Department of Pediatrics, I Faculty, "Sapienza" University of Rome, Italy.
authors.forename: Raffaella
authors.initials: R
authors.lastname: Nenna
authors.forename: Patrizia
authors.initials: P
authors.lastname: D'Eufemia
authors.forename: Mauro
authors.initials: M
authors.lastname: Celli
authors.forename: Maurizio
authors.initials: M
authors.lastname: Mennini
authors.forename: Laura
authors.initials: L
authors.lastname: Petrarca
authors.forename: Anna
authors.initials: A
authors.lastname: Zambrano
authors.forename: Monica
authors.initials: M
authors.lastname: Montuori
authors.forename: Mauro
authors.initials: M
authors.lastname: La Pietra
authors.forename: Margherita
authors.initials: M
authors.lastname: Bonamico
mesh_terms: D015519:Bone Density; D002446:Celiac Disease / Q000150:complications* / Q000178:diet therapy / Q000378:metabolism; D002675:Child, Preschool; D055050:Diet, Gluten-Free; D005260:Female; D006801:Humans; D006961:Hyperparathyroidism / Q000209:etiology; D017490:Ichthyosis, Lamellar / Q000209:etiology*; D011788:Quality of Life