Odisha’s first case of harlequin ichthyosis

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Odisha’s first case of harlequin ichthyosis

WHY?

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, a doctor said citing a research paper on the disease.

Condition: The facial features of the baby, including the mouth, eyes and ears were deformed, restricting breathing and eating. 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.

Imp Points:

Odisha reported its first-ever case of a baby born with harlequin ichthyosis in Ganjam district. India’s first case was recorded in Nagpur, Maharashtra in 2016.
The disease is an extremely rare genetic disorder that resulted in thickened skin forming over nearly the entire body at birth.
Causes - The disease is caused due to mutations in the ABCA 12 gene (a mutated gene inherited from the parents).
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, which results in lack of lipid transport.

Occurrence - The disease affects one in three million births. There are around 200 to 250 such cases across the world. India’s first recorded case of a baby born with harlequin ichthyosis was in 2016, at a private hospital in Nagpur, Maharashtra. Such cases were also reported in Delhi, Patna and West Bengal.

Source: DTE

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