Ichthyin (NIPAL4)-autosomal recessive congenital ichthyosis with atopic diathesis: Case report and literature review

Abstract

Autosomal recessive congenital ichthyosis (ARCI), is a rare form of ichthyosis with multiple mutations identified. Ichthyin (NIPAL4) gene mutation is identified in about 18% of cases. In addition to the usual ichthyosis phenotype we are presenting a new association between ARCI and atopic diathesis with multiple allergies. To the best of our knowledge this is the second case to report such an association between ARCI and atopic diathesis.

Keywords

• Ichthyosis
• Atopic dermatitis
• Ichthyin mutation