Thursday, June 28, 2007

UNTUK PENGETAHUAN AGAR JANGAN TERSILAP.

About Ichthyosis
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








































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4 comments:

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

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  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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