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Ichthyosis
(redirected from Harlequin ichthyosis)

   Also found in: Dictionary/thesaurus, Medical, Wikipedia 0.01 sec.
ichthyosis [‚ik·thē′ō·səs]
(medicine)
A congenital skin disease characterized by dryness and scales, especially on the extensor surfaces of the extremities.

Ichthyosis 

fish skin disease, xeroderma, a skin disease characterized by sharply increased keratogenesis and retarded keratolysis.

Incidence of ichthyosis is a familial condition in half the cases and hereditary in 25 percent. It appears in early childhood (most often around age three), intensifies at puberty, and lasts throughout life. It is expressed in dryness of the skin and the accumulation of horny masses on the skin’s surface, in the form of scales or of massive horny plates that resemble fish scales. The excretion of oil and perspiration decreases sharply. The affection spreads over the entire skin surface, except at joint folds, axillae, and inguinal folds. On the face and scalp, ichthyosis appears in the form of furfuraceous desquamation. The condition of the skin improves in the summertime as a result of increased excretion of oil and sweat. Ichthyosis is treated with hot baths containing soda or table salt, followed by lubrication of the skin with emollient creams. Cod-liver oil and vitamins may be taken internally (in particular vitamin A). In the summer, prolonged sojourns in the south can be helpful (sea bathing).

I. N. VEDROVA



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Four of Nelly's eight brothers and sisters were also born with Harlequin Ichthyosis and died as young children.
It seems that the mutated ABCA 12 gene in harlequin ichthyosis has something to do with the production of the lamellar granules in the upper layers of the skin.
Byline: Peter Grant WATCH IT Extraordinary People: (five, 9pm) LUCY and Hannah Betts and Dana and Lara Bowen are two sets of sisters with one of the rarest disorders in the world: a genetic skin condition called harlequin ichthyosis.
 
 
 
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