LAHORE: Researchers at the University of Health Sciences (UHS) have discovered a 25-year-old patient in Lahore with five types of tumours on his face and might need hundreds of surgeries in his life time; a case which is one of its kind in the world.
The team which is headed by UHS Histopathology Department Head Prof AH Nagi, consists of Dr Usman Shams, Dr Raees Abbas Lail and Dr Ehsan Ullah. The case, which has been recently presented at 31st Symposium of International Society of Dermatopathology held in Barcelona, Spain, is unique in the sense that this patient has got five different types of skin tumours out of which four are cancers.
“Such patients require hundreds of surgeries in their life time. A female patient suffering from the same disease underwent 114 surgeries in 23 years in America,” said Prof Nagi. Dr Ehsan, who is also an MPhil student, said that the condition was termed xeroderma pigmentosum which was a very rare genetic disease that showed recessive pattern of inheritance.
Patients suffering from this disorder could not repair their DNA damage which was caused by the ultra violate light present in the environment, he said, adding that, as a result of this inability to repair genetic material such patients were prone to develop different cancers of the body but specially skin cancers.
He further said these patients had a two thousand times more risk of developing skin cancers as compared to a normal human being. It occurred around the globe and its frequency showed large geographical variations.
“Incidence of up to one in 1,000,000 population has been reported for this disease”, he informed.
Dr Raees Abbas, a postgraduate scholar involved in the research project, said that it was a terrible and mutilating disease in which occurrence of multiple cancers on the body and their repeated surgical treatments resulted in serious psycho-social implication for the patient as well as for his family.
He said the patient, whose identity could not be disclosed due to ethical reasons, had already undergone six surgeries since he was first diagnosed cancer at the age of 8 years. Another researcher Dr Usman Shams disclosed that these disorders were not so rare in Pakistan.
“We came across another patient of xeroderma pigmentosum with two unusual skin cancers. Later, another family from Faisalabad came to us with all three sons affected by this disorder”.
He said they were arranging for technical resources for doing research on these diseases locally and for creating a fund for helping these highly distressed patients who had to undergo surgical procedures and laboratory testing very frequently.
“Although cure of this disease is not yet discovered, preventive and palliative measures can enhance the quality of life of these patients. This needs public awareness as well as the education of the patients and their families”, he emphasized.
