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Harlequin type ichthyosis(keratosis diffusa fetalis)

What is it?

• Harlequin-type ichthyosis is a skin disease, characterized by the thickening of the keratin layer in the skin of human fetuses.

• Extremely rare.• First documented in 1750.

Characteristics

• Massive, diamond-shaped scales• Red skin• Malformed eyes, ears, mouth and limbs,

• Little or no movement.• Cracks in the skin.• Skin sheds 10 times faster than a healthy human.

• Deep fissures.• Harder than diamonds.

Causes

• Mutations in the ABCA12 gene.

How Is It Diagnosed?

• Fetal Skin Biopsy• Ultrasound• 3D Ultrasound

How Is It Treated?

• Isotretinoin (Acutane)

What Is It Like To Have It?

• Fatal At Birth• They can’t move, eat, or breath well because of their armour-plating.

• Few reach adolescence and even fewer reach adulthood.

Research

• Centre for Cutaneous Research• The Genome Centre at Barts and the London

• Queen Mary, University of London

• Real Lives: The Harlequin Sisters

• The American Journal of Human Genetics

Interesting Information• First documented in the diary of Rev. Oliver Hart:

"On Thursday, April þe 5, 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 open. It had no external nose, but two holes where the nose should have been. The eyes appeared to be lumps of coagulated blood, turned out, about the bigness of a plum, ghastly to behold. It had no external ears, but holes where the ears should be. The hands and feet appeared to be swollen, were cramped up and felt quite hard. The back part of the head was much open. It made a strange kind of noise, very low, which I cannot describe. It lived about forty-eight hours and was alive when I saw it."

Bibliography• Wikipedia (The Free Encyclopedia)• The Internet Journal of Pediatrics and Neonatology

• Foundation For Ichthyosis & Related Skin Types

• Geneva Foundation for Medical Education and Research

• http://www.10news.com/health/3919722/detail.html

• http://www.thefetus.net• http://video.google.com/videoplay?docid=6587474718312939442

• http://www.youtube.com/watch?v=7xW4TVRLSgg