Harlequin Ichthyosis

It's always sad to see a baby with a deformity. However bizarre and horrible it is, we must not jump to conclusions that it is something else. In this case, many people have said this baby is born a snake. This is a very rare but typical case of Harlequin Icthyosis. It is characterized by plaques, measuring up to 4 or 5 cm on a side, that have a diamond-like configuration resembling the suit of a harlequin clown.

Harlequin Clown, diamond shaped design

Harlequin Ichthyosis

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: unknown; may have several causes

Source : Foundation for Icthyosis