Cohort study of Gorlin syndrome with emphasis on standardised phenotyping and quality of life assessment
Journal article
Huq, Aamira J., Bogwitz, Michael, Gorelik, Alexandra, Winship, Ingrid M., White, Susan M. and Trainer, Alison H.. (2017). Cohort study of Gorlin syndrome with emphasis on standardised phenotyping and quality of life assessment. Internal Medicine Journal. 47(6), pp. 664 - 673. https://doi.org/10.1111/imj.13429
Authors | Huq, Aamira J., Bogwitz, Michael, Gorelik, Alexandra, Winship, Ingrid M., White, Susan M. and Trainer, Alison H. |
---|---|
Abstract | Background Gorlin syndrome (nevoid basal cell carcinoma syndrome) is a rare genetic predisposition to basal cell carcinomas (BCC), keratocysts of the jaw and calcification of the falx cerebri among other clinical features. With the advent of sonic hedgehog inhibitors for the treatment of BCC, it is timely to establish a cohort of individuals with Gorlin syndrome and collect standardised phenotypic information on these individuals. Moreover, the health‐related quality of life (QoL) in individuals with Gorlin syndrome is not well studied. Aim To establish a Victorian cohort of Gorlin syndrome and study the QoL in these individuals. Methods Phenotypic data were obtained by reviewing medical records of individuals attending two major tertiary/quaternary genetic referral centres in Victoria, followed by telephone or face‐to‐face interviews where possible. QoL information was obtained utilising the AQoL‐6D quality of life survey form. Results The median number of BCC in the 19 individuals studied was 17.5 (interquartile range 3–70). The number of patients with ≥100 BCC in this group was similar to a previously described national cohort (22.2 vs 27% respectively). A total of 58% of referrals to the genetics clinics originated from maxillofacial surgeons and 42% from dermatologists. Individuals with ≥100 BCC had worse median QoL scores compared to those with <100 BCC (36 vs 29, P‐value of 0.031). Conclusion The clinical features in our cohort were congruent with those previously described in Australia. The QoL is adversely correlated with increased BCC burden. |
Keywords | nevoid basal cell carcinoma syndrome (NBCCS); basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome; Basal cell carcinoma (BCC); quality of life in Gorlin syndrome; PTCH1; SUFU |
Year | 2017 |
Journal | Internal Medicine Journal |
Journal citation | 47 (6), pp. 664 - 673 |
Publisher | Wiley-Blackwell |
ISSN | 1444-0903 |
Digital Object Identifier (DOI) | https://doi.org/10.1111/imj.13429 |
Scopus EID | 2-s2.0-85020059396 |
Page range | 664 - 673 |
Publisher's version | File Access Level Controlled |
Place of publication | Australia |
https://acuresearchbank.acu.edu.au/item/867y6/cohort-study-of-gorlin-syndrome-with-emphasis-on-standardised-phenotyping-and-quality-of-life-assessment
Restricted files
Publisher's version
113
total views0
total downloads0
views this month0
downloads this month