All are genetic conditions with increased risk of malignancy except
Correct Answer: Neurofibromatosis
Description: Neurofibromatosis is associated the development of smooth surfaced cafe-au-lait spots, subcutaneous neurofibromata, armpit or groin freckling and Lisch nodulesNaevoid basal cell carcinoma (Gorlin's) syndromeThis is an autosomal dominant inherited condition caused by an abnormal tumour suppressor gene on Ch. 9q 22-31 coding the 'patched' protein. 90% of patients develop multiple basal cell carcinomas (BCCs).Xeroderma pigmentosumThis syndrome is caused by an abnormality on the 'patched' gene of Ch. 9q resulting in aberrant nucleotide repair during cellular DNA maintenance.>2000-fold increase in skin cancer risk Autosomal recessive inheritanceFerguson-Smith syndromeThis is a rare, autosomal-dominantly inherited abnormality on Ch. 9q Affected individuals develop multiple self-healing squamous cell carcinomas (SCC).Ref: Bailey and Love, 27e, page: 595
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