This young boy has multiple skin cancers in the sun exposed
a. What is the most likely diagnosis?
There is development of basal cell carcinoma and squamous cell carcinoma
in the sun-exposed areas. This is due to the failure of the body
to initiate excision repair of pyrimidine dimers and other photoproducts.
b. How is this condition inhertied?
Autosomal recessive. It has an incidence of 1:250,000
c. What is the prognosis for this patient?
About 60% of the patients die before the age of 20 due to metastatic
squamous cell carcinoma.Survial depends on the severity of the disease,
early diagnosis and careful protection from sun exposure.
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