Full term delivery of a Harlequin ichthyosis baby: a case report

[摘要] 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 39eeks 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.

[学科分类] 妇产科学

[关键词] Harlequin ichthyosis;hereditary;prenatal diagnosis