First Vietnamese girl diagnosed with excessive hair syndrome

 

The first patient with Cantú syndrome is treated for hair removal by the doctors in HCM City Hospital of Dermato Venereology. (Photo: VNA)

HCM City (VNA) – Vietnam’s first case of Cantú syndrome was discovered by
doctors of the , health official
said on July 16.

Cantú
syndrome is a rare characterised by excess hair growth
(hypertrichosis), a , 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 Tran Nguyen Anh Tu, vice head of the Cosmetology Department, the patient
is a 6-year-old girl living in the southern province of Ba Ria-Vung Tau.

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
, said doctor Tu.

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./.