Dr. Pimple Popper is a reality TV show on TLC that follows Dr. Sandra Lee, a dermatologist and cosmetic surgeon, as she treats patients with various skin conditions. The show features Dr. Lee performing extractions of cysts, lipomas, and other skin growths. In several episodes, she has treated patients with cuteanous neurofibromas (cNF) due to NF1. Dr. Lee provides both medical care and personal support to her patients, highlighting the transformation and relief they experience from these procedures.

What are cutaneous neurofibromas?

Cutaneous neurofibromatosis is not pimples; they are tumors that grow on or under the skin. Cutaneous neurofibromas are the most common type of tumor-related to neurofibromatosis type 1 (NF1), affecting 95% of those with the condition. They are benign tumors that develop along a nerve on or under the skin. They may look like small lumps, bumps, or nodules. Cutaneous neurofibromas may develop at any time of life, but also seem to increase in number during times of hormone changes, such as during puberty or, for women, during pregnancy. Typically, adults with NF1 will develop more tumors as they age, 

Talk shows such as Oprah, Sally Jessy Raphael, The View, The Today Show, and various national and local news programs have significantly raised awareness about NF by featuring patients and their families. These appearances have provided a platform for individuals affected by NF to share their personal stories, struggles, and triumphs, helping to humanize the condition for a broad audience. Oprah and Sally Jessy Raphael were particularly impactful in the 1980s and 1990s, offering emotional interviews that highlighted the challenges faced by patients. However, not all portrayals were well-received. Oprah’s segment on NF drew criticism from the community when she mistakenly referred to it as “Elephant Man disease,” a term associated with a different condition called Proteus Syndrome. This mislabeling caused frustration, as it perpetuated confusion and stigma surrounding NF.

Despite such missteps, shows like these continue to raise awareness by blending personal stories with expert discussions on the latest research and treatments. Local news programs also contribute by spotlighting community heroes and emphasizing the importance of local support networks. While not every portrayal has been ideal, these media appearances have nonetheless played a critical role in informing the public, offering hope, and fostering solidarity among those affected by NF.

Joseph Merrick, known as the Elephant Man, was a 19th-century Englishman famous for his severe physical deformities that were, for decades, thought to be caused by neurofibromatosis. It is now known that Merrick had Proteus syndrome, a disorder characterized by overgrowth of skin, bones, and other tissues. Merrick lived a challenging life, ultimately finding refuge at the London Hospital under the care of Dr. Frederick Treves, who documented his case and helped him live with dignity​.

In November 2013, Pope Francis touched hearts around the globe when he embraced and kissed Vinicio Riva, a man living with neurofibromatosis and has visible tumors all over his face and body. During a general audience in St. Peter’s Square in Italy, Pope Francis took the time to meet Riva, gently holding his face and offering a kiss. A photograph capturing this moment quickly went viral, resonating deeply with people worldwide. Riva had said he was so used to people staring at him in shock that he was surprised by the Pope hugging him without hesitation. Read more about this moment in history. 

This underscores that one cannot catch NF – it is not contagious. People are born with it. Each NF case is as unique and individual as the person living with it.

Developments and Media Coverage

Recent advancements in research have led to new insights and treatments for individuals with NF. One significant development was the FDA approval of Koselugo (selumetinib) in 2020 for use in patients with inoperable plexiform neurofibromas, a common manifestation in neurofibromatosis type 1 (NF1). Clinical trials showed that more than 70% of patients experienced tumor size reduction, leading to improved physical function, reduced pain, and enhanced quality of life. This approval marks a major milestone for the NF community and opens the door for further advancements in treatment options for all forms of NF​​.

Read more about the FDA approval and the success stories of patients treated with selumetinib.  Get a deeper dive into some of the frequently asked questions regarding selumetinib.

In 2024, CTF’s pharmaceutical partner Alexion AstraZeneca Rare Disease informed us of a notable label change for Koselugo: patients no longer need to fast before taking the medication. This development marks a significant stride forward in patient convenience and treatment management.  Read more about the development.

A landmark study published in the New England Journal of Medicine revealed promising results for the use of brigatinib in treating NF2-related schwannomatosis (NF2-SWN). This breakthrough is a direct outcome of the Synodos for NF2 research initiative spearheaded by the Children’s Tumor Foundation, highlighting the power of collaborative research. A multi-institutional global research team, established and funded by CTF, found promising evidence that brigatinib can help shrink the tumors of patients with NF2-related schwannomatosis.  Find out the key takeaways of the study.

The media has also played a role in raising awareness about NF.. For instance, May is NF Awareness Month, during which various campaigns and events are held to educate the public and support research efforts. High-profile figures and celebrities have also contributed to the cause, sharing their personal stories and helping to destigmatize the condition. By raising awareness and understanding, we can foster a more inclusive and supportive society for individuals with neurofibromatosis.