The first patient with Cantú syndrome is treated for hair removal by the doctors in HCM City Hospital of Dermato Venereology. — VNA/VNS Photo
HCM CITY — The country's first case of Cantú syndrome was discovered by doctors of the HCM City Hospital of Dermato Venereology, health authorities announced Thursday.
Cantú syndrome is a rare genetic condition characterised by excess hair growth (hypertrichosis), a distinctive facial appearance, heart defects, and several other abnormalities. The features of the disorder vary among affected individuals, according to the medical definition.
There have been 74 cases recorded worldwide so far.
According to doctor Nguyễn Ánh Tú, vice head of the Cosmetology Department, the patient is a 6-year-old girl living in the southern province of Bà Rịa-Vũng Tàu Province.
Earlier last month, the girl registered with the department for a medical check and body hair removal.
The girl had full body hair after birth. The hair is described as very thick and dense especially on her face, neck, nape, waist and limbs.
The girl is about to enter first grade this September. She began to feel self-conscious about her body hair so her parents decided to take her to the hospital for hair removal.
Finding other strange symptoms, the doctors decided to perform further tests.
The test results showed that the young patient suffered from many musculoskeletal abnormalities, such as a very flat nose, long distance between her eyes, eye puffiness, long and clear philtrum, increasing diametre of rib cage, breastbone protruding forward, uneven shoulders, and scattered mature hair on cheeks, chin, neck, nape, arms, legs and spine.
Along with abnormal development of hair and bones, the girl has abnormalities in the cardiovascular system with leaking physiological heart and aortic valves, and undilated heart chambers.
Her brain also has unusual features, with scattered white matter in the frontal lobe and semi-oval centre on both sides and light vasodilation.
Especially, the genetic analysis results showed that she has a heterozygous mutation c.3460C>T (Arg1154Trp) of gene ABCC9 that is the basis for identifying with Cantú syndrome, said doctor Nguyễn Ánh Tú.
The girl was given a free medical examination and hair removal services.
The doctors have consulted with the patient's family and referred to relevant faculties to address her other health issues. — VNS