China News Service, Wuhan, February 24 (Wu Yili Qiao Lingling) Skin becomes cancerous when exposed to the sun, so he can only go to school in rainy weather. A 4-year-old boy soldier (a pseudonym) has a rare skin disease. Department of Dermatology, Wuhan First Hospital received surgery.
Bingbing came from Huangshi, Hubei. When he was 3 months old, several brown spots of various sizes grew on his face for unknown reasons. His parents felt abnormal and took him to Wuhan for medical treatment.
According to the results of dermoscopy and skin CT, combined with clinical symptoms, Chen Liuqing, a rare disease expert in the Department of Dermatology, Wuhan First Hospital, diagnosed him as xeroderma pigmentosum.
Subsequently, Bingbing's parents also carried out genetic testing, the results showed that both parents are recessive carriers of xeroderma pigmentosum.
Chen Qing introduced that xeroderma pigmentosum is an autosomal recessive genetic disease.
Such patients are very sensitive to ultraviolet light. The DNA in the epidermal cells will be damaged under ultraviolet light and cannot be repaired, which will cause blistering sunburn, epidermal tissue necrosis and various skin cancers.
Because of a rare skin disease, Bingbing's parents tried their best to maintain his normal life. Only in rainy weather did Bingbing take him to kindergarten.
If the sun suddenly appears, the soldiers will not be able to go out, and the kindergarten teachers will put on sun hats for him and stay indoors "fully armed".
With age, the number of fading macules on Bingbing's face increased, and it developed to the scalp, neck, and upper limbs, and several dark-gray patches appeared on the scalp and face and continued to increase.
Bingbing could only stop all outings and came to the Wuhan No. 1 Hospital to be hospitalized recently. He underwent skin lesion resection, flap transplantation and laser treatment, and removed the cancerous parts that can be found so far.
"Bingbing will continue to see whether the skin will become cancerous or not. This is beyond human control. The only thing that can be done at present is to continue to take good care of sun protection." Chen Liuqing said that at present, no relevant drugs have been developed internationally for such rare diseases. Patient use.
Chen Liuqing said that such rare diseases are genetic diseases. Parents with family history need to perform genetic screening on the fetus. He hopes that the medical community will strengthen attention to rare diseases and drug development to break through the "dilemma" of rare diseases.
(Finish)