Harlequin ichthyosis (HI) is one of the most severe and rare autosomal recessive congenital ichthyosis (ARCI), characterized by severe hyperkeratosis, extensive fissuring and a variable degree of cutaneous malformations. Here we report a case of 22 years old female patient in her first pregnancy. The baby was born at 39 weeks of gestation from non-consanguineous parents. At birth the baby had thick skin with deep fissures. The baby was admitted to the neonatal intensive care unit and survived for 11 days.
Harlequin ichthyosis, hereditary, prenatal diagnosis
The authors report no conflict of interest
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