UHS researchers report a rare disease

Researchers at the UHS come across an unusual case where a 25-year-old has five types of tumours on his face.

LAHORE: Researchers at the University of Health Sciences (UHS) claim that they have come across a unusual case where an 25-year-old has five types of tumours on his face.

The man might need hundreds of surgeries for the tumours, four of which are malignant, say the researchers. The condition is termed xeroderma pigmentosum, a very rare genetic disease.

The case was recently presented at the 31st Symposium of International Society of Dermatopathology held in Barcelona, Spain. The team, headed by UHS histopathology department’s head Prof AH Nagi, included Dr Usman Shams, Dr Raees Abbas Lail and Dr Ehsan Ullah.

“A female patient who also had multiple tumours underwent 114 surgeries in 23 years in America” said Prof Nagi.

Dr Ehsan said, “The disease shows a recessive pattern of inheritance. Patients suffering from this disorder cannot repair the damage to their DNA caused by the ultra violet rays.” The patients who suffer from the condition are two thousand times more likely to develop skin cancers. One person in a million has the disease.

Dr Raees Abbas said that the large number of surgeries that the patients had to go through had psycho-social implications for the patients as well as for their families.  The patient has already undergone six surgeries since he was first diagnosed at the age of 8.

Dr Shams, another member of the team, told reporters that they had come other patients with xeroderma pigmentosum. “One of them had two unusual skin cancers. There was a family from Faisalabad who came to us with all three of their sons affected,” he said.

Though a cure for this disease is yet to be discovered palliative measures can enhance the quality of life for the patients.

The identity of the patient was not disclosed because of “ethical reasons” according to the panel.

Published in The Express Tribune, December 4^th, 2010.