A 15-year-old woman in the northern province of Yen Bai has given birth to a boy with Harlequin ichthyosis, a rare disease.
The baby was covered with thick, hard white skin, with deep cracks and bleeding.
The baby weighing over 2kg was born in the 37th week of pregnancy at the General Hospital of Nghia Lo, Yen Bai province by cesarean section. The body was covered with thick, hard white skin, with deep cracks and bleeding.
The mother is a 15-year-old ethnic Mong in Tram Tau district, Yen Bai province. During the pregnancy, the young woman never sought prenatal screening.
Dr. Bui Thi Ngoc Quynh, head of the Obstetrics and Gynecology Ward of the General Hospital of Nghia Lo, told VietNamNet that the infant suffers from a genetic skin disorder called Harlequin Ichthyosis, also known as fish-scale disease.
The baby was unable to suckle by himself so he was transferred to the Paediatrics Ward for special care. After a few days, the infant could be fed by a spoon, and was in good health.
Because the child has a rare disease that needs complicated care, doctors suggested transferring the child to the Central Children's Hospital in Hanoi for treatment, but the family disagreed. On the 10th day, the family insisted on taking the baby home.
According to Dr. Quynh, Harlequin Ichthyosis is a rare disease with the rate of 1 per 500,000 children. It is a severe genetic disorder that mainly affects the skin. The newborn is covered with plates of thick skin that crack and split apart. The thick plates can pull at and distort facial features and can restrict breathing and eating. Mutations in the ABCA12 gene cause harlequin ichthyosis.
There is no treatment method for the disease. The only treatment is to regularly apply moisturizer to help soften the skin and reduce cracks.
Dr. Quynh said that it is difficult to detect fish scales disease by usual fetal ultrasound, but from the ninth week of pregnancy, women can have a NIPT test to detect genetic defects.
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