Harlequin Ichthyosis in a new born in Rwanda: A Case Report

Abstract

Harlequin Ichthyosis is a rare and most severe congenital disorder of the skin caused by a loss-of-function mutation of ABCA12 gene. Here, we presented a male neonate with hyperkeratotic, tight, armor-like skin separated by a deep erythematous fissure whose diagnosis of Harlequin Ichthyosis was made based on the typical clinical features. Supportive management for prevention of infection, prevention of dehydration and electrolyte imbalance was started for him but has died after seven days of hospital stay from respiratory failure. Lack of advanced neonatal care, absence of diagnostic facilities and lack of treatment options like systemic retinoids can be contributing factors to the high mortality of affected neonates.