Rare Diseases Symptoms Automatic Extraction

Celiac disease and lamellar ichthyosis. Case study analysis and review of the literature.

[lamellar ichthyosis]

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.

Diseases presenting "pneumonia" symptom

  • 22q11.2 deletion syndrome
  • acute rheumatic fever
  • allergic bronchopulmonary aspergillosis
  • alpha-thalassemia
  • classical phenylketonuria
  • cohen syndrome
  • congenital diaphragmatic hernia
  • heparin-induced thrombocytopenia
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • junctional epidermolysis bullosa
  • lamellar ichthyosis
  • legionellosis
  • liposarcoma
  • lymphangioleiomyomatosis
  • monosomy 21
  • oculocutaneous albinism
  • omenn syndrome
  • pleomorphic liposarcoma
  • primary effusion lymphoma
  • proteus syndrome
  • pyomyositis
  • scrub typhus
  • severe combined immunodeficiency
  • triple a syndrome
  • waldenström macroglobulinemia
  • wiskott-aldrich syndrome
  • x-linked adrenoleukodystrophy
  • zellweger syndrome

This symptom has already been validated