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Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, Gorlin-Chaudhry-Moss syndrome, is a rare autosomal dominant disorder with almost complete penetrance and variable expression rates
.
The incidence is about 1/57000-1/256000, and there is no significant difference between men and women
The purpose of this study was to explore whether the severity of the disease could be predicted based on the clinical characteristics of patients, thereby providing a basis for clinical decision-making
.
The researchers collected data from 248 patients with Gorlin syndrome who visited between 2014 and 2021 from three institutions
.
Multivariate regression analysis was used to assess the predictive value of clinical characteristics for disease burden
Figure 1.
Lifetime Burden of Base Cell Cancer
Compared with patients without skeletal abnormalities, patients with skeletal abnormalities had an average of 120 additional lifetime risks of basal cell cancer
In conclusion, Gorlin syndrome patients with skeletal abnormalities may be at higher risk of developing more and more severe basal cell carcinomas and other tumors, including odontogenic keratocystic tumors and ovarian fibroids
.
Given that skeletal abnormalities can be assessed at the time of diagnosis of Gorlin syndrome, the findings of this study suggest that patients with skeletal abnormalities should be followed up more frequently
Gorlin syndrome patients with skeletal abnormalities may be at higher risk for more and more severe basal cell carcinomas and other tumors, including odontogenic keratocystic tumors and ovarian fibroids
Original source:
Nicolas J.
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