Abstract
Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin-Goltz syndrome or Gorlin syndrome, is a rare multisystem disorder with an estimated prevalence of around 1 in 100,000 on average. Vismodegib, an oral smoothened (SMO) inhibitor that blocks the activation of the sonic hedgehog (SHH) pathway, is used in patients with NBCCS. We present an interesting case of a 38-year-old female with Gorlin-Goltz syndrome and her response to vismodegib therapy over two and a half years. She had an excellent initial response to vismodegib for a year during which all her skin basal cell carcinoma (BCC) lesions decreased in size considerably; her dentigerous cysts remained the same size. Though she continued therapy despite several side effects, this was only followed by tumor regrowth and the emergence of new BCC lesions in a more aggressive manner. We discussed the proposed mechanism of resistance to vismodegib (based on our case and literature review) along with its clinical implications. Our case highlights that vismodegib resistance might lead to progression of Gorlin syndrome to a more aggressive version, and points out the need to determine the optimal regimen (combining vismodegib with other agents) and optimal therapy duration (continuous treatment vs. discontinuation after best response) for treatment of NBCCS.
Highlights
Nevoid basal cell carcinoma syndrome (NBCCS) known as Gorlin-Goltz syndrome or Gorlin syndrome is a rare, autosomal dominant, multisystem disorder with an estimated prevalence of around 1 in 100,000 on average [1,2]
We present an interesting case of a 38-year-old female with Gorlin-Goltz syndrome and her response to vismodegib therapy over two and a half years
Our case highlights that vismodegib resistance might lead to progression of Gorlin syndrome to a more aggressive version, and points out the need to determine the optimal regimen and optimal therapy duration for treatment of NBCCS
Summary
Nevoid basal cell carcinoma syndrome (NBCCS) known as Gorlin-Goltz syndrome or Gorlin syndrome is a rare, autosomal dominant, multisystem disorder with an estimated prevalence of around 1 in 100,000 on average [1,2]. We present an interesting case of a 38-year-old female with Gorlin-Goltz syndrome and her long-term response to vismodegib therapy. Gorlin syndrome was diagnosed using diagnostic criteria [6] She had two major criteria - multiple BCC, odontogenic keratocysts of the jaw - and one minor criterion - radiologic abnormalities like bridging of sella turcica. Some of her facial lesions were treated with Mohs surgery, and all the remaining lesions were treated with ED&C. After 2.5 years of vismodegib therapy, vismodegib was discontinued due to unclear benefit, recurrence of BCC which occurred with an increased frequency as time progressed, and persistent side effects which did not improve with time
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