Odisha reported its first-ever case of a baby born with harlequin ichthyosis, a rare genetic condition, at a hospital in Berhampur in the state’s Ganjam district.
Context
Odisha reported its first-ever case of a baby born with harlequin ichthyosis, a rare genetic condition, at a hospital in Berhampur in the state’s Ganjam district.
- The disease affected one in three million births and is caused due to a mutated gene inherited from the parents.
- The disease sees the skin form large diamond-shaped plates across the body that are separated by deep cracks (fissures).
- The skin is dry and scaly, almost like fish skin and hence the term ‘icthyosis’, derived from ‘ikthus’, Greek for fish.
What is the cause of the disease?
- Mutations in the ABCA 12 gene are stated to cause harlequin ichthyosis.
- The ABCA12 protein plays a major role in transporting fats in cells which make up the outermost layer of skin.
- Severe mutations in the gene lead to the 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.
- The disease is rare and only a handful of cases have been recorded across the world.
