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PubMed This is a summary of 80 peer-reviewed journal articles Updated
Medical Genetics

Navigating Gorlin Syndrome (NBCCS)

At a Glance

Gorlin syndrome (NBCCS) is a rare, manageable genetic condition that requires a lifelong surveillance plan. Establishing a health baseline with a specialized care team and consulting a genetic counselor are crucial first steps for managing features like skin lesions and jaw cysts.

Welcome to your comprehensive guide on Gorlin Syndrome, also known as Nevoid Basal Cell Carcinoma Syndrome (NBCCS). Being diagnosed with a rare genetic condition can feel overwhelming, but you are not alone. This guide is designed to empower you with evidence-based information, translating complex medical data into clear, actionable strategies.

Whether you or your child have just been diagnosed, or you are looking to update your management plan, these pages will help you navigate the complexities of the disease. You will learn about the underlying genetics, how the condition is diagnosed, the best treatment strategies, and how to build a surveillance plan that protects your long-term health.

Please explore the following pages to build your understanding and prepare for productive conversations with your care team:

01

Understanding Your Diagnosis: An Orientation to Gorlin Syndrome

Learn about your Gorlin syndrome diagnosis, also known as NBCCS. Understand key features like BCCs and jaw cysts, and find out what to expect for care.

02

The Biology of Gorlin Syndrome: Broken Brakes and Cell Growth

Learn about the biology of Gorlin syndrome. Understand how PTCH1, SUFU, and ELP1 gene mutations affect your health risks and treatment options.

03

Solving the Puzzle: How Gorlin Syndrome is Diagnosed

Learn how Gorlin syndrome (NBCCS) is diagnosed. Understand the major and minor clinical criteria, the role of genetic testing, and signs to look out for.

04

Treating Gorlin Syndrome: A Proactive Management Plan

Learn about Gorlin syndrome treatments, including how to manage basal cell carcinomas (BCCs) and jaw cysts (OKCs), plus risks and benefits of SMO inhibitors.

05

Your Medical Roadmap: A Lifelong Surveillance Plan

Learn about the lifelong medical surveillance plan for Gorlin syndrome. Understand age-specific screening guidelines for PTCH1 and SUFU gene mutations.

06

Building Your Care Team: Living Well with Gorlin Syndrome

Learn how to build a multidisciplinary care team for Gorlin syndrome. Discover strategies for managing skin exams, jaw cysts, and the emotional toll.

A Note on Empowerment:
Remember that while Gorlin syndrome requires lifelong management, it is highly manageable. You are your own best advocate. Use this guide to organize your thoughts, understand the “why” behind your doctor’s recommendations, and ensure you are receiving the standard of care you deserve.

Common questions in this guide

What is Gorlin syndrome?
Gorlin syndrome, also known as Nevoid Basal Cell Carcinoma Syndrome (NBCCS), is a rare genetic condition. While it requires lifelong management and surveillance for issues like skin lesions and jaw cysts, it is a highly manageable condition when monitored closely.
What should I do first after being diagnosed with Gorlin syndrome?
The first step is to establish a health baseline by working with a care team experienced in the condition. You should also ask for a referral to a genetic counselor to discuss your family's specific risks and evaluate testing options.
Can Gorlin syndrome be managed effectively?
Yes, while the condition requires lifelong surveillance, it is highly manageable. By building a proactive management plan and working with a specialized care team, you can effectively monitor the condition and protect your long-term health.
What should I ask my doctor about Gorlin syndrome?
It is highly recommended to ask how many Gorlin syndrome patients they have treated and whether they collaborate with other specialists. You should also ask about the first steps to establish a health baseline and for a referral to a genetic counselor.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.How many patients with Gorlin syndrome have you treated, and do you collaborate with other specialists?
  2. 2.What is the first step we should take to establish a baseline for my or my child's health?
  3. 3.Can you provide a referral to a genetic counselor to discuss our family's specific risks and testing options?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

This guide to Gorlin syndrome is for informational purposes only and does not replace professional medical advice. Always consult your specialized care team and genetic counselor for personalized management and testing.

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