Image Based Question – 67329

A 6 year old child was brought to the clinic because his parents were concerned with excessive lesions and blistering in the facial and neck area.The parents noted that the lesions did not go away with typical ointments and often become worse when the child was exposed to sunlight.On examination,the child’s facial appearance looked as shown in the image.Poor muscle tone was also found..Doctor found this condition to be an Autosomal recessive disease.Regarding this condition,which of the following options are true?

A. Patients should avoid exposure to any source of UV light.

B. Most patients die of cancer.

C. Occurs due to abnormal Nucleotide excision repair.

D. All of the above.

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Correct Answer » D Explanation

Ans:D. All of the above.

The patient is probably suffering from Xeroderma Pigmentosum.

Xeroderma pigmentosum

• It is a rare autosomal recessive disease characterized by photosensitivity, pigmentary changes, Skin freckling,ulcerations,premature skin ageing, neoplasia and abnormal Nucleotide excision repair.

• Carcinomas and Melanomas appear early in life and most patients die of cancer.

• The most common deficiency occurs in the excision endonuclease.

• This disease can be diagnosed by measurement of the relevant enzyme excision endonuclease in white cells of blood.

• Patients with the disease should avoid exposure to any source of UV light.