5-year-old ‘butterfly’ boy at PGI for treatment

Shimona Kanwar| TNN | Updated: Apr 12, 2018, 11:13 IST
Full text: https://timesofindia.indiatimes.com/city/chandigarh/5-year-old-butterfly-boy-at-pgi-for-treatment/articleshow/63720834.cms



CHANDIGARH: A five-year-old suffering from dystrophic Epidermolysis Bullosa (EB), a painful and rare genetic skin disease, is being treated in PGI. Kids with EB are often referred to as ‘butterfly children’.
The kid has a new genetic alteration, which caused the rare skin disease. A collaborative research between the Institute of Genomics and Integrative Biology (IGIB), New Delhi, and PGI has been able to uncover some novel variants in India causing EB. Consequently, molecular diagnosis and prenatal screening have recently helped one such case to terminate the pregnancy as the feotus was found to have a genetic mutation for the rare genetic condition, which makes the skin extremely fragile, almost like a butterfly’s wing. The ‘butterfly kids’ are prone to blisters.

In the area of genetic skin diseases, IGIB has been collaborating with the department of dermatology, PGI, and has been able to solve a number of cases of such diseases with molecular diagnosis. PGI has 40 families affected by this rare skin disease.

In this rare condition, the skin becomes fragile and breaks down in case of any minor pressure or trauma. EB is caused due to mutations, which affect the proteins involved in the architecture and anchoring of the skin layers. The disease has multiple levels of severity (less to moderately severe i.e. dystrophic). People with severe form EB can ultimately die.

“In the recent paper, we described the utility of genomics approach (whole exome sequencing). This approach makes it cost-effective, time-effective and efficient for clinical applications,” said Dr Vinod Scaria, senior scientist, IGIB.

The authors including Dr Rahul Mahajan and Dr Sanjeev Handa from the dermatology department, PGI, have described how this genomic approach could enable diagnosis, prognosis as well as prevention of the disease through appropriate prenatal testing, using the case example of two families.

“In case of both the families, the identification of the genetic variants confirmed clinical diagnosis. In the second family, the identification of novel variants also offered them a possibility to avail prenatal genetic testing,” said Dr Scaria.