Thursday, June 28, 2007


About Ichthyosis
Harlequin Ichthyosis

Other names: harlequin fetus


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

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  1. oh gitu ke sebabnya..keadaan bayi agak serupa dgn keadaan mayat yg dlm proses mereput.

  2. Yup... tp purata penyakit ni dlm 30,000 dalam satu kelahiran. Sesama lah kita mohon dgn Allah, minta dijauhkan dari kita. Amin~

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