A Vietnamese girl with a rare disease is reported to be the first case in the world

A 16-year-old girl from Hanoi has a rare, recessive gene KRT1 with a new mutation in superficial epidermal ichthyosis combined with hirsutism. This is also the first case reported in the world.

Ho Chi Minh City University of Medicine and Pharmacy Hospital has just reported the world's first case of recessive gene KRT1 with a new mutation in superficial epidermal ichthyosis combined with hirsutism.

This rare case was also reported at the annual American Dermatology conference with the participation of delegates from more than 100 countries around the world held in March 2024.

Accordingly, the patient is NHP (16 years old, living in Hanoi). The patient's family said that when P. was born, he was normal, but just a few days later, his skin was swollen like a burn, filled with water inside, and when touched, his skin slipped, and he could not wear clothes. The family took him to many hospitals for examination and treatment; sent his sample abroad for testing and was diagnosed with congenital epidermolysis bullosa.

The family was told by the doctor that there was no treatment for the disease. It is recommended not to expose the baby to chemicals, so P. does not use bath soap and applies skin softening cream. As he gets older, his condition gets better.

In 2023, P. was taken to Ho Chi Minh City by his family for examination. Dr. Hoang Van Minh, Professional Consultant of the Hemangioma Center, University of Medicine and Pharmacy Hospital, Ho Chi Minh City, Campus 3, said that at the time of admission, the patient was found to have scaly, wavy, rough gray skin localized on the wrists, elbows, knees, ankles, armpits, folds, back of the hands and feet combined with widespread hirsutism and dry skin all over the body.

At this time, the doctor immediately thought of superficial epidermal ichthyosis and had the patient sequence the entire coding gene and sent the sample to Korea for testing. The patient's parents were then also genetically sequenced.

Image showing patient's condition in August 2023

The results showed that in the child (patient P.), a complex heterozygous variant of KRT1 was identified: one variant, p.Gly537IlefsTer77, inherited from the mother and another variant, p.Arg386Ter, inherited from the father. Notably, the p.Arg386Ter mutation is a new finding, not previously reported.

Dr. Hoang Van Minh said, this is a difficult case, difficult to treat and the treatment time is long. Currently, the treatment for this case is mainly symptomatic treatment, with topical medications that soften and moisturize the skin... to avoid peeling of the patient's scales.

According to doctors, Superficial epidermolytic ichthyosis (SEI) is a rare genetic skin disease characterized by epidermal blisters, mild hyperkeratosis in the folds, and the development of superficial flaky skin without erythema. While mutations in the KRT1/KRT10 gene cause Superficial epidermolytic ichthyosis, autosomal dominant mutations in the KRT2 gene cause Superficial epidermolytic ichthyosis.

Accordingly, the patient is NHP (16 years old, living in Hanoi). The patient's family said that when P. was born, he was normal, but just a few days later, his skin was swollen like a burn, filled with water inside, and when touched, his skin slipped, and he could not wear clothes. The family took him to many hospitals for examination and treatment; sent his sample abroad for testing and was diagnosed with congenital epidermolysis bullosa.

The family was told by the doctor that there was no treatment for the disease. It is recommended not to expose the baby to chemicals, so P. does not use bath soap and applies skin softening cream. As he gets older, his condition gets better.