Recently, Quang Ninh Obstetrics and Gynecology Hospital received a 27-year-old mother, Dao ethnic group, residing in Van Don, Quang Ninh province, who gave birth at 32 weeks prematurely. The baby was born with an abnormality of dry skin all over the body and was diagnosed with the disease. Harlequin Ichthyosis, an inherited skin disorder. It is known that the mother gave birth for the 6th time, did not go to the doctor and monitor the pregnancy, did not perform prenatal screening tests. However, the baby’s whole body skin is hard and thick, accompanied by deep cracks that cause burning pai

Dr. Dang Hong Duyen, Department of Neonatology, Quang Ninh Obstetrics and Gynecology Hospital, said that Harlequin Ichthyosis is an extremely rare and severe form of dry skin like fish scales, belonging to a 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 growth rate 7 times faster than in normal people.

Rare: Having a genetic skin disorder, an infant has dry skin all over the body – Photo 1.

Children with rare skin diseases

The genetic skin disorder Harlequin Ichthyosis in a simple way, is that 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 formed a self-protective mechanism of the skin called keratinization, the technical term is Keratinization.

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

The type of mutation is recessive on the autosomal chromosome, so the child “inherits” both the mutated gene from both parents.

According to doctors, genetic mutations cause the absence or deficiency of this protein, which prevents fat from being transported, leading to severe changes in areas of the skin. In the stratum corneum, lipids are deposited inside the cell membrane, making the stratum corneum thicker and harder, cracking into deep crevices.

Pregnant women should go for prenatal screening to avoid birth defects