Harlequin ichthyosis: a case report

Abstract

Harlequin Ichthyosis (HI) is a very rare subtype of a group of hereditary disorders that have in common the accumulation and shedding of significant amounts of hyperkeratotic epidermis. HI has a very specific clinical presentation that includes eclabium, fish mouth appearance, mouth breathing and xerostomia. The addition of a very high caloric demand to the clinical features place these affected individuals at extremely high risk for developing rampant dental decay. This case report discusses a two-year-old boy with HI that presents with severe early childhood caries. The specific accommodations that were made to accomplish required dental work under general anesthesia are presented. A case is made for the inclusion of dentists in the management of these cases once a diagnosis is made.