Other names: Harlequin Fetus
OMIM: 242500
Inheritance: autosomal recessive
Incidence: very rare
Key findings:
- skin: extremely thick scale encases the entire fetus; deep fissures in scale develop after birth; thick scale causes eversion of the lips (eclabium) and eyelids (ectropion); ears and digits may appear malformed, owing in part to the thick scale that envelops them
Associated findings: in some, none; short stature is common in survivors; neurologic, kidney and lung abnormalities have been described
Age at first appearance: birth
Long-term course: premature birth common; early death may occur from complications of prematurity and/or constriction caused by the thick scale, from infection or from dehydration; survivors have the appearance of lamellar ichthyosis or congenital ichthyosiform erythroderma
Diagnostic tests: skin biopsy for electron microscopy is highly suggestive
Abnormal gene: Research in 2005 indicates mutations in the ABCA 12 transporter underlie Harlequin Ichthyosis
