Monday 13 June 2016

Harlequin Ichthyosis

Harlequin Ichthyosis-
is a rare genetic skin disorder. Infants who are affected by this condition are born with thick, yellow and very hard skin. The skin has large, diamond shaped plates separated by deep fissures. The disorder affects shapes of all the organs.

Mutations in the ABCA12 gene cause the disease.
The ABCA12 protein plays a major role in transporting fats in cells that make up the outermost layer of skin. Severe mutations in the gene lead to absence or partial production of the ABCA12 protein.
This results in lack of lipid transport and as a result the skin development is affected by varying degrees according to the severity of the mutation.

For a baby to inherit this condition, both father and mother, should be carriers of the mutated ABCA12 gene. ( autosomal recessive pattern.)

And guys there is no cure..
The oldest person survived was 23 yer old female and is a mother of two kids. But still it is a fatal condition!

Medinotes :)

2 comments:

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