5-year-old Nguyen Thu Tr. is diagnosed with Congenital Erythropoietic Porphyria (CEP), which is sometimes referred to as "vampire" or "Dracula" disease. The worldwide prevalence of the disease is estimated to be between 1 in 500 and 1 in 50,000 people.
Vietnam has for the first time diagnosed and successfully treated a case of Gunther's disease, thanks to doctors at the Hanoi-based National Dermatology Hospital.
The 5-year-old patient from Hanoi, identified only as Nguyen Thu Tr., was diagnosed with the disease, known medically as Congenital Erythropoietic Porphyria (CEP), after she was admitted earlier this year with many blisters and skin deformations on her face, legs and arms"”all areas exposed to sunlight.
Tr. was in bad shape when she was admitted, according to a Nguoi Lao Dong report last Friday.
She weighed only 13 kilograms, the weight of a normal child less than two years old, and was suffering anemia with an abnormally big spleen, and shrunk finger tips due to skin scarring from the disease.
The hospital's Dr. Nguyen Tien Thanh said the girl was the first case of the rare genetic disease the hospital had ever encountered.
Thanh said the girl has been discharged after one month of treatment. The damaged skin has healed and no new blisters have occurred, he said.
She also underwent a spleen surgery to treat the anemia.
She has been suffering skin problems her whole life, but most intensely during spring and summer, as direct sunlight fuels the problem. A brother of hers died at age 7 with similar symptoms though no conclusive diagnosis was made at the time.
The disease is caused by the imbalance of porphyrins a metal-containing pigment in tissues, thus comes the name porphyria.
Porphyrins combined with iron form hemes in the blood. Prophyrin imbalance will lead to the imbalance of heme contents, which cause gastrological problems like stomach cramping and nausea, neurological and psychological disorders, photosensitivity, changes of skin color, and anemia.
It is sometimes referred to as "vampire" or "Dracula" disease as the skin burns under direct sunshine similar to legends about vampires, said Dr. Nguyen Duy Hung, general secretary of Vietnam Dermatology Association, who helped with the diagnosis.
The doctor said the girl has only been treated for symptoms of the disease and needs to come back for re-examinations, protect herself from direct sunshine with long coats and lotions, and wear sunglasses to avoid eyelid damage that can lead to blindness.
"Just a little contact with sun light will bring back the burns, which can cause infections and skin cancer," Hung said, according to Nguoi Lao Dong.
The worldwide prevalence of the disease is estimated to be between 1 in 500 and 1 in 50,000 people.
Scientists have not come up with an official treatment, besides solutions for its symptoms such as increasing hemoglobin levels and curing damaged skin.
Current technology allows doctors to detect the disease from the 16th week of the embryo.
The disease is not contagious and proper care can allow the patient to live up to 60 years, according to scientists.
But the condition is often mistaken for others like Epidermolysis Bullosa (EB), an inherited connective tissue disease caused by problems with chemicals that cement the layers of skin together, and thus the patients are not properly protected from sunlight.
"The discovery of this case is an important and meaningful improvement in Vietnam's dermatology development," Dr. Thanh said in a report by Suc Khoe & Doi Song (Health & Life).
"We are improving in diagnosing rare diseases that would have been ignored previously. Further cooperation by medical agencies will bring more hope to these patients," he said.