Geburtshilfe Frauenheilkd 2016; 76 - P401
DOI: 10.1055/s-0036-1592855

Prenatal diagnosis of repeated Harlequin ichthyosis – Case report and review of the literature

A Möller 1, A Thomas 1, S Römer 2, J Lange 3, W Henrich 1
  • 1Universitätsklinik Charité, Klinik für Geburtsmedizin, Berlin, Deutschland
  • 2Universitätsklinik Charité, Klinik für Neonatologie, Berlin, Deutschland
  • 3Zentrum für Pränataldiagnostik und Humangenetik, Kurfürstendamm, Berlin, Deutschland

Introduction: Harlequin ichthyosis is an autosomal recessive hereditary skin disorder and an extremely severe form of congenital ichthyosis. The overall incidence is 1 in 300.000 births and it is associated with significant morbidity. Harlequin ichthyosis is characterized by its remarkable clinical presentation with hyperkeratosis and desquamation of the epidermis, ectropion, eclabium, rudimentary ear appendages, hypoplastic nose and flat profile. The massive skin thickening results in clenched fingers and toes and arthrogryposis.

Methods & Results: We report the prenatal diagnosis of a Harlequin fetus based on a three-dimensional ultrasound in a patient with a history of a previously affected child. The second trimester screen in 27+4 weeks of gestation showed a flat profile, with protrusion of the eyes and a widely opened mouth. The shape of the mouth, fixed flexion of the extremities, hyperechogenic amniotic fluid and polyhydramnion were indicative for Harlequin ichthyosis.

In a systematic review of the literature, eleven relevant publications were identified. Using two-, three- and four- dimensional morphologic scan, they all showed the specific abnormal facial features and forced position of the extremities making a prenatal diagnosis of congenital ichthyosis possible.

Conclusions: Three-dimensional (3D) ultrasound provides an important contribution to prenatal diagnosis of Harlequin ichthyosis. It is able to identify typical facial features as well as arthrogryposis and is a noninvasive alternative to a chorionic villus sampling (CVS) and analysis of amniotic fluid cells.