"cardiac fibroma(s)"
"It was described by Robert James Gorlin (1923-2006) and Robert William Goltz (1923-2014) 5 in 1960 2, although cases had been reported in the literature prior to this."
"It is an autosomal dominant syndrome with complete penetrance and variable expressivity. It is related to a mutation in the PTCH tumour suppressor gene on chromosome 9, which encodes for the "Sonic Hedgehog" receptor 3. 35-50% of affected individuals are the result of new mutations. Individuals with the syndrome are sensitive to ionising radiation, with one study showing accumulation of p53 in exposed cells 3. Patients with Gorlin syndrome may be hypersensitive to and contraindicated from receiving radiation therapy."
Expected headings
"Diagnosis"
"Major criteria"
"Minor criteria"