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.
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