Harlequin ichthyosis: Case report.

[harlequin ichthyosis]

Harlequin fetus is a rare and the most severe form of the congenital ichthyosis with an autosomal recessive inheritance . Incidence of the disease is nearly 1 in 3 ,00 ,000 live births . The disease might be lethal at birth and the affected babies are often premature . Harlequin ichthyosis (HI ) is marked by severe keratinized and alligator-like horned skin . The present study reports a new case with HI and adds to the collective knowledge of this rare skin disorder . HI has been linked to mutation in the ABCA 12 gene ; therefore , genetic counseling and mutation screening of this gene should be considered .

Diseases
Validation

Diseases presenting "ichthyosis" symptom

child syndrome

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

harlequin ichthyosis

hirschsprung disease

junctional epidermolysis bullosa

kallmann syndrome

lamellar ichthyosis

This symptom has already been validated