Abstract

HARLEQUIN ICHTHYOSIS: AN AUTOSOMAL DERMATOLOGICAL DISORDER

Ashmeet Kaur, Harsharan Pal Singh

ABSTRACT

Harlequin ichthyosis is a severe and extremely rare genetically inherited disorder of skin. It is a disorder with severe erythrodermtic ichthyosis which causes a distinct and life threatening appearance at birth. It is most severe form of congential ichthyosis. The baby born with a dense armor-like scales that covers the entire body. The armor cracks and splits apart which affects the shape of the eye-lids, nose, mouth and ears. The newborn is encased within a membrane which restricts the movement of the limbs and chest cavity. The restricted movement of the chest results in respiratory and circulatory failure. These babies are at serious risk of hyperthermia and hypothermia, dehydration, seizures, skin infection, poor feeding and hypernatremia. Thus, neonates die at an early stage of life. Pathogenetic mechanism involved behind this disorder is the mutation in the ABCA12 gene. Loss of function of ABCA12 leads to defective lipid transport via lamellar granules and malformation of the intercelluar lipid layer. This results in hyperkeratotis of the skin. This genetic disorder can be diagnosed by prenatal DNA analysis by chorionic villus or amniotic fluid sampling at early stages of pregnancy. The otherwise fatal disorder can be managed with utmost nursing care with combined efforts of paediatrician, dermatologist, geneticist, ophthalmologist, reconstructive surgeon along with full involvement of parents. This has led to increased survival incidences. These babies are subjected to contempt which adversely affects their psyche and self-esteem. Thus, social and professional support should be included as an essential part of the holistic management of such babies.

Keywords: Autosomal recessive, congenital ichthyosis, microencephaly, hyperkeratotis.