25 October, 2020

Epidermolysis Bullosa: A Rare Genetic Disorder

Epidermolysis bullosa is a genetic condition that results in fragility of the skin and mucous membranes, causing blisters after minor trauma or spontaneously.

Epidermolysis Bullosa: A Rare Genetic Disorder
outlookindia.com
2019-06-14T11:51:41+05:30

It is impossible to imagine what a day in the life of a parent of a child suffering from epidermolysis bullosa (EB) is like. Nilesh Patil’s six-year-old son Amit (names changed) was born with a wound on his foot. After several rounds of tests, it was diagnosed as the result of the rare genetic disorder—its incidence is one in 50,000 live births. A genetic condition that results in fragility of the skin and mucous membranes, causing blisters after minor trauma or spontaneously, it is caused by specific mutations in one of at least 18 genes res­ponsible for production of proteins vital to the skin’s structural integrity. In the most severe clinical subtypes, EB also affects other organs and systems such as cardiovascular, gastrointestinal, eyes, bones and joints, resulting in limb mutilation, malnutrition, carcinomas and other complications. As tests during pregnancy for genetic disorders are too expensive for most people, parents find out only after the birth of their child, usually with wounds on the feet. Living with such a child involves dressing the...

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