Hanoi girl diagnosed with world's 1st known case of disease

Dr Hoang Van Minh of the HCMC University of Medicine and Pharmacy Hospital said Wednesday her case was reported at an annual U.S. conference on dermatology last month.

The girl came to the hospital in July 2023 with scaly skin in certain areas like the wrists, kneecaps, armpits, and feet. The skin throughout her body was dry and hairy.

As doctors realized her condition was a unique form of ichthyosis, they ran genetic sequencing and sent samples to South Korea for testing.

It was found that the cause of her condition has to do with an autosomal recessive hereditary mutation.

While cases of superficial epidermolytic ichthyosis-hypertrichosis been reported before, the girl is the first with such mutations.

A girl in Hanoi is diagnosed with superficial epidermolytic ichthyosis-hypertrichosis. Photo courtesy of doctors

The girl’s family said her condition began just a few days after birth. Her skin was blistered as if burned, preventing her from wearing clothes properly.

She was taken to several hospitals, and when samples were shipped abroad for testing, she was diagnosed with epidermolysis bullosa, which has no cure.

Superficial epidermolytic ichthyosis (SEI) is a hereditary skin condition, resulting in blisters and keratinization, the acquisition of a horn-like character by the epithelial tissue in many parts of the body.

The condition usually begins in childhood and does not affect a patient’s general health.

Hypertrichosis refers to abnormal growth of hair in certain areas of the body, and might be caused by genetic factors or other health conditions.