A 16-year-old Vietnamese girl has been reported as the first case in the world to have the recessive gene KRT1 with a new mutation in superficial epidermolytic ichthyosis (SEI) combined with hypertrichosis, a combination of conditions that has never been recorded in medical history.

The University Medical Center Ho Chi Minh City on Tuesday provided details of the case.

The case had been earlier reported at the U.S. annual dermatology conference on March 10 this year with the attendance of representatives of over 100 countries and territories.

Doctor Hoang Van Minh, an advisor to the Hemangioma Center at the University Medical Center Ho Chi Minh City, said the center admitted the patient, N.H.P., a resident of Hanoi.

P.’s family took her to the hospital as she developed symptoms of hard, wavy, scaly, and gray skin, mainly on her wrists, elbows, knees, ankles, armpits, back of hands, and insteps, as well as full-body dry skin.

N.T.A., the father of P., said she was normal when she was born. However, several days after her birth, her skin swelled up like burns with water inside, so she could not wear clothes at the time.

She was taken to many hospitals and had her specimen sent abroad for testing. She was diagnosed with innate epidermolysis bullosa.

Doctors said there was no medication for the conditions and told her to avoid chemicals, so she does not use soap for showers and instead applies emollient cream, A. recalled.

He added that her conditions were better when she was older. She suffers from dry skin but still goes to school and does daily activities like normal children.

He has recently taken her to Ho Chi Minh City for treatment.

He told doctors there that his daughter’s blisters have reduced over time. She also incurs hirsutism.

Doctors realized that she has a special case of ichthyosis, so they had her undergo whole genome sequencing and sent her specimen to South Korea for testing.

The genome sequencing results showed that her disease was caused by autosomal recessive inheritance.

The disease can be treated by protecting the skin from being dry, softening it to prevent skin scaling.

Doctor Minh said superficial epidermolytic ichthyosis is a rare skin disease.

The combination with hypertrichosis is even more uncommon.

Superficial epidermolytic ichthyosis and hypertrichosis are two different medical conditions with no direct connection, the doctor noted.

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