Monday, June 18, 2012

History, Sign & Symptoms



History….


The disease has been known since 1750 and was 1st described in the diary of a cleric from Charleston, South Carolina, Rev. Oliver Hart (The diary is printed in the Year Book of the City of Charleston, S. C., for 1896.)

“On Thursday, April ye 5th, 1750, I went to see a most deplorable object of a child, born the night before, of one Mary Evans, in Chas: town. It was surprising to all who beheld it, and I scarcely know how to describe it. The skin was dry and hard, and seemed to be cracked in many places, somewhat resembling the Scales of a Fish. The Mouth was large and round, and wide open. It had no external nose, but two Holes where the Nose would have been. The Eyes appeared to be lumps of coagulated Blood, turned out, about the Bigness of a Plumb, ghastly to behold. It had no external Ears, but holes where the Ears should be. The Hands and Feet Appeared to be swoln, were crumpt up, & felt quite hard. The back part of its Head was much open. It made a strange kind of a noise, very low, which I cannot describe. It lived about eight and forty hours, and was alive when I saw it.” (source: http://archpedi.jamanetwork.com/article.aspx?volume=43&page=442)

Sign & Symptoms....

Pathophysiology
The features of the sufferers are severe cranial and facial deformities. The ears may be very poorly developed or absent entirely. The nose is also deformed, showing a flattened structure and reduce nostrils. The eyelids are severely everted (turn outward) —‘ectropion’—which leaves the eyes and the area around them very susceptible to infection. They often bleed upon birth. The lips pulled by the dry skin, are fixed into a wide grimace — ‘eclabium’. Arms, feet and fingers are almost always deformed in such a way that they cannot bend properly and may be below normal size.
They present hypoplasia in fingers, therefore they cannot grab things properly or they can barely touch them. Polydactyly, a condition in which one has more than the usual number of toes or fingers, has also been found in these infants.
They are extremely susceptible to changes in temperature due to their armour-like cracked skin, which prevent the normal heat loss. This can result in hyperthermia. Their respiration is also restricted by the skin, which impedes the chest wall from expanding and drawing in enough air. This can lead to hypoventilation and respiratory failure. Harlequins are often dehydrated as their plated skin is not well suited to keep the water in.

Epidemiology
Frequency: More than 100 cases of Harlequin Ichthyosis have been reported internationally.
Mortality/Morbidity: the mortality far harlequin ichthyosis rate is high. With neonatal intensive care and the advent of retinoid therapy, some babies have survived the new-born period. They are still at high risk of dying from systemic infection, which is the most common cause of death. A review of 45 cases by Rajpopat et. Al, found 25 survivors (56%), ranging age from 10months to 25 years, 20 deaths (44%) occurred from day 1 to day 52 and were as likely to be caused by respiratory failure as fulminant sepsis (75%) [Source: http://reference.medscape.com/medline/abstract/21339420]
Rece: No racial prediction is known for harlequins.
Sex: No increased risks of harlequin ichthyosis based on sex in known.

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