Extensive vernix caseosa-like scale in newborn with suspected ichthyosis prematurity syndrome

Introduction:
Inherited ichthyoses are a heterogeneous group of disorders of cornification that are either syndromic or non-syndromic. Ichthyosis prematurity syndrome (IPS), a recently recognized rare syndromic congenital ichthyosis, is characterized by premature birth, vernix caseosa-like scale, extensive spongy hyperkeratosis and neonatal asphyxia.

Methods and Results:
A male, first child to non-consanguineous parents of French-Canadian ancestry, was born at 34 weeks with good APGAR score and a birth weight of 2.450 kg following a pregnancy complicated by polyhydramnios and premature rupture of membrane at 32 weeks. Family history reveals a case of unspecified congenital ichthyosis in the mother’s second-degree cousin. At birth, generalized edematous spongy hyperkeratotic plaques on the limbs along with extensive areas of vernix caseosa-like changes on the head and trunk were noted. Despite the presence of thickened amniotic fluid, no respiratory distress was noted. Skin abnormalities improved dramatically in the first weeks of life with liberal application of petrolatum. Histopathological and electron microscopic examination showed hyperkeratosis, acanthosis, dermal inflammation, and aggregates of curved lamellar structures in the upper epidermis. A unilaterally abnormal screening audiogram is being investigated.


Conclusions:
Based on the clinical presentation and premature birth, IPS was suspected. An important differential diagnosis for this case is KID syndrome. IPS is a rare heterogeneous group of autosomal recessive ichthyosis. It is caused by mutations in the fatty acid transporter protein 4 gene (FATP4). The characteristic features of IPS are premature birth, neonatal asphyxia, and thick vernix caseosa-like desquamating epidermis at birth evolving into a mild chronic ichthyosis with atopic manifestations. Prenatal findings include polyhydramnios, separation of the chorionic and amniotic membranes, and echogenic sediment in the amniotic fluid. Recognizing this syndrome is essential to guide optimal perinatal care and reassure parents and pediatricians about its benign course beyond the perinatal period.