Acne, discolored skin patches and epilepsy might individually be symptomatic of many diseases and disorders, but together they are signs of a relatively rare genetic disorder called Tuberous Sclerosis Complex (TSC), which is thought to affect more than 2,000 people in the nation, the Taiwan TSC Association said yesterday.
TSC is a rare, multisystem genetic disorder that causes benign tumors to form in various organs, including the brain, lungs and kidneys, physicians said.
While it is estimated that more than 2,000 Taiwanese have TSC, fewer than 500 patients have been diagnosed, University Hospital Department of Medical Genetics physician Chen Pay-long (陳沛隆) said, attributing the low diagnosis rate to insufficient public awareness about the genetic disease.
To raise awareness about TSC, the association has joined with Taipei 101 to mark this year’s TSC Global Awareness Day by illuminating the skyscraper in blue — the representative color of the illness — tomorrow, association director-general Lu Hsien-lung (魯賢龍) said.
A 17-year-old man named Chou Po-hsuan (周伯軒) exhibited light-colored spots on his skin and eczema 58 days after his birth, symptoms first attributed by his parents to an ordinary skin irritation, Lu said.
“To Chou’s parents’ shock, a dermatologist ordered cranial and heart ultrasounds for the infant, as well as magnetic resonance imaging. The physician said that their son had to live with a rare condition they had never heard of, TSC, for the rest of his life,” Lu told a news conference in Taipei yesterday to herald TSC Global Awareness Day.
The disease has variable manifestations because it can affect multiple organs, Chen said.
“For instance, some develop cardiac tumors in early infancy, while 95 percent of TSC-affected individuals experience benign skin growths, discolored skin patches or pimple-like bumps,” Chen added.
Those who develop abnormal growths in the brain can experience seizures and cognitive impairment, while patients with pulmonary cysts might be prone to coughing up blood and collapsed lungs, he added.
TSC is caused by a mutation in the DNA of either the TSC1 or TSC2 gene, with one-third of the patients inheriting the disease from an affected parent and two-thirds from spontaneous genetic mutations, Chen said.
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