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BS.CKI. Hoang Van Minh examined a relative of a family of 3 with a rare disease – Photo: provided by the hospital
It is dry pigmentation. This is a very rare condition with an incidence of only 1 in 1,000,000 people.
Doctors said that with laser treatment that combines simple sun protection measures, such as wearing a wide-brimmed hat and sunglasses, the three patients in the family receive effective treatment and can live in the ban. days in discreetly armored condition.
In which, typical is Mrs. TTKP, 37 years old. After 10 years of follow-up treatment, Ms. P. only needs to laser 9 times instead of having to operate many times to remove the skin lesions.
To find out the cause of the disease and how to treat this rare disease, doctors have conducted a genetic mutation study for Ms. P.’s family since 2013.
TS. Bui Chi Bao, Ho Chi Minh City National University School of Medicine, a professional advisor to the DNA Medical Technology Center, said the doctors had embarked on a study to record a detailed phenotypic analysis of the pathology. Dermatology, ophthalmology, and neurology are based on a family of individual family severity scoring systems.
15 people of 3 generations of this family also underwent intensive genetic analysis, according to the new generation of genetic code (Whole Exome Sequencing, WES), in coordination with clinical evaluation.
The results of the genomic analysis found an error in the ERCC2 gene, a heterozygous mutation that has recently been found to be inherited in family members. Furthermore, experimental studies have shown that fibroblasts isolated from the patient’s skin cannot recover from UV damage on their own.
According to BS.CKI. Hoang Van Minh – Director of the Blood Tumor Center at Ho Chi Minh City Medical University Hospital, scientists have yet to find a cure for dry pigmentation, which is a very interesting scientific topic. at many specialized dermatology conferences. However, research on new genetic mutations opens prospects for investigating treatments for this rare disease.
BS.CKI Tran The Vien, Professor of Dermatology, University of Medicine and Pharmacy, Ho Chi Minh City, said that dry pigmentation (Xeroderma pigmentosum, XP) is a very rare disease.
This is a disease that makes the patient’s skin unable to repair itself when damaged by ultraviolet rays. As a result, severe sunburns are accompanied by irritation and blisters, dry skin, freckles, increased and decreased pigmentation.
The patient also has eye symptoms such as photophobia, photosensitivity, vision problems, and cataracts. The average life expectancy of the patient does not usually exceed 40.
In particular, about 25% of patients have neurological abnormalities, including cognitive impairment, loss of reflexes, and progressive hearing loss.
The world has recorded many cases of patients who are isolated from normal life, they can only go out at night to limit sun exposure. These patients also often require surgery to remove skin lesions that are at risk of turning into cancer.
With older treatments, patients must wear sunscreen every hour, wear an astronaut-like hat and gloves to protect themselves from the sun. Some people must also have UV filters in their homes.
BS.CKI Hoang Van Minh recommends dry pigmentation as a rare disease with many dangerous complications if it is not detected and treated early.
As soon as symptoms of blisters, dry skin, freckles, severe hyperpigmentation appear when exposed to sunlight or hypersensitivity to light, the patient should take sun protection measures immediately. and specialized medical facilities for prompt examination and treatment.
Although there is no complete treatment, this disease can be well controlled if it is detected early and the treatment and sun protection methods are followed according to the doctor’s instructions.
Facial hyperpigmentation disorder
