Recently, Quang Ninh Obstetrics and Pediatrics Hospital received a 27-year-old pregnant woman, Dao ethnic group, residing in Van Don, Quang Ninh province, who gave birth prematurely at 32 weeks. The baby was born with abnormal dry skin all over the body, and was diagnosed with Hereditary skin disorder Harlequin Ichthyosis. It is known that the mother gave birth for the 6th time, did not go for a check-up and fetal monitoring, and did not perform prenatal screening tests. However, the baby’s entire body’s skin is hard and thick, with deep cracks that cause pain.

Doctor Dang Hong Duyen, Department of Neonatology, Quang Ninh Obstetrics and Children’s Hospital, said that Harlequin Ichthyosis is an extremely rare and severe form of dry skin disease like ichthyosis, belonging to the group of recessive genetic diseases with an incidence of about 1. /500,000. The disease makes the dermis 10 times thicker than normal and the skin grows 7 times faster than in normal people.

Children with rare skin diseases

Hereditary skin disorder Harlequin Ichthyosis in a simple way, in the evolutionary process of our ancestors, to switch from the water environment in the mother’s uterus to the dry environment after birth, the body Humans have developed a skin self-protection mechanism called keratinization, the technical term is Keratinization.

The cause of the disease is a recessive gene mutation on chromosome 2, the ABCA12 gene (2595 aa) that regulates the synthesis of ABCA12 (ATP-binding cassette transporter 12) protein in the skin – a protein that plays a role in transporting lipids to the epidermis. Creates a protective barrier for the skin. Deficiency or absence of ABCA12 Protein in the skin layer causes lipids to not be transported out but deposited in the cell membrane, making the stratum corneum increasingly thick and hard.

The mutation is autosomal recessive, so the child “inherits” both mutated genes from both parents.

According to doctors, genetic mutations cause the absence or deficiency of this protein, causing fat to not be transported, leading to serious changes in areas of the skin. In the stratum corneum, lipids are deposited inside the cell membrane, causing the stratum corneum to become increasingly thicker and harder, cracking into deep crevices.

Pregnant women should go for prenatal screening to avoid the fetus having birth defects.