A novel ENPP1 mutation identified in a multigenerational family affected by Cole disease.

Abstract excerpt

Cole disease is a rare autosomal dominant genodermatosis with only five cases published in literature since its first description in 1976. We report a case of a 3-year-old boy of Italian ancestry who presented with hypopigmented skin patches on the upper extremities and multiple yellowish, firm papules and small plaques on his palms and soles. There were similar findings in the family, extending back at least...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Child, Preschool
• Share to Hypopigmentation
• Share to Keratoderma, Palmoplantar