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

Area of Science:

• Pediatrics
• Gastroenterology
• Endocrinology

Background:

• Lamellar ichthyosis is a severe congenital skin disorder.
• Malabsorption is a known complication of ichthyosis, potentially leading to nutritional deficiencies.
• Celiac disease, an autoimmune disorder triggered by gluten, can cause malabsorption and bone disease.

Observation:

• A 5-year-old female with lamellar ichthyosis presented with Mycoplasma pneumoniae pneumonia.
• Investigations revealed severe osteoporosis and hyperparathyroidism, suggestive of celiac disease.
• Endoscopic duodenal biopsies confirmed total villous atrophy, diagnosing celiac disease.

Findings:

• The patient initiated a gluten-free diet with calcium and vitamin D supplementation.
• After one year, bone mineral density normalized completely.
• While intestinal lesions did not fully resolve, the patient reported significant improvements in quality of life.

Implications:

• This case highlights the importance of screening for celiac disease in children with ichthyosis and malabsorption.
• Early diagnosis and dietary management of celiac disease can effectively reverse osteoporosis in affected children.
• Addressing nutritional deficiencies and associated complications is crucial for improving the overall well-being of children with rare genetic skin disorders.