Volume 12, Issue 45 (6-2005)                   RJMS 2005, 12(45): 43-48 | Back to browse issues page

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Abstract:   (18243 Views)

    Harlequin Ichthyosis (HI) describes a severe erythrodermic ichthyosis and causes a distinctive and grotesque appearance at birth. Survival is now possible therefore, harlequin ichthyosis is a more appropriate term than harlequin fetus. Incidence is 1 in 300,000 births. An autosomal recessive pattern of inheritance is seen in this disorder, but a new autosomal dominant mutation may possibly be responsible. The prognosis is ominous and most of the affected neonates die in the first hours or days of life. In this case report we present two cases of HI who were the first and the second baby of a family and their parents were cousins.

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Type of Study: case report | Subject: Pediatric Disease

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