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Baby With Harlequin Ichthyosis - Extreme Genetic Disorder

submitted by Zonbie

1 decade 5 years 10 months 4 weeks ago

This baby is afflicted with a rare gentic disorder that produces, an underdeveloped body, hardened skin, with cracks and fissures - I am not exactly sure of the direct origin of this video.

From Genetics Home Reference link Harlequin Ichthyosis Information

What is harlequin ichthyosis?

Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin. Infants with this condition are born with very hard, thick skin covering most of their bodies. The skin forms large diamond-shaped plates separated by deep cracks (fissures). These skin abnormalities affect the shape of the eyelids, nose, mouth, and ears, and restrict movement of the arms and legs. Restricted movement of the chest can lead to breathing difficulties and respiratory failure.

The skin normally forms a protective barrier between the body and its surrounding environment. The skin abnormalities associated with harlequin ichthyosis disrupt this barrier, making it more difficult for affected infants to control water loss, regulate their body temperature, and fight infections. Infants with harlequin ichthyosis often experience an excessive loss of fluids from the body (dehydration) and develop life-threatening infections during the newborn period.
How common is harlequin ichthyosis?

Harlequin ichthyosis is very rare; its exact incidence is unknown.