Harlequin ichthyosis - a rare genetic disorder : a case report

Abstract

Harlequin Ichthyosis(HI) is a type of genodermatosis. It is a rare and fatal genetic disease. Life expectancy in an affected infant is only a few days. The defect lies in mutation of ABCA12 gene. The barrier action of skin is severely compromised making the infant prone to infections and dehydration. Present treatment protocol consists mainly of conservative and supportive therapies. The authors report this case as it is a rare disease. The main purpose of this report is to create awareness about the disease and discuss the genetic factors along with micro anatomy of skin ultimately leading to this condition.

Keywords

• harlequin ichthyosis
• abca12 gene
• ectropion
• eclabium