Vietnamese girl reported as world’s 1st case containing gene mutation in SEI plus hypertrichosis

April 18, 2024

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. 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. She suffers from dry skin but still goes to school and does daily activities like normal children. Superficial epidermolytic ichthyosis and hypertrichosis are two different medical conditions with no direct connection, the doctor noted.

The source of this news is from Tuoi Tre News