Volume : VIII, Issue : II, February - 2019

A COMPREHENSIVE REVIEW OF GENETIC DISORDER: HARLEQUIN ICHTHYOSIS

Ms. Varinder Kaur, Ms. Jyoti Shokeen

Abstract :

Harlequin ichthyosis is the most severe form of autosomal recessive congenital ichthyosis. The affected neonate is born with a massive, horny shell of dense, plate like scale and contraction abnormalities of the eyes, ears, mouth. HI case treated with acitretin, focusing on the multi–faceted management of the disease. It is usually treated with supportive care and prenatal diagnosis for early findings. The prognosis improves once the baby survives the first few weeks. Physical development may be delayed by the abnormal calorie needs their skin function demands, but mental and intellectual developments are expected to be normal.

Article: Download PDF    DOI : https://www.doi.org/10.36106/paripex  

Cite This Article:

A COMPREHENSIVE REVIEW OF GENETIC DISORDER: HARLEQUIN ICHTHYOSIS, Ms. Varinder Kaur, Ms. Jyoti Shokeen PARIPEX - INDIAN JOURNAL OF RESEARCH : Volume-8 | Issue-2 | February-2019

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