Adam Pearson is probably the most recognized public figure living with neurofibromatosis type 1 (NF1) today. The British actor, who has prominent facial tumors caused by the condition, has appeared in major films and become an outspoken advocate for people with visible differences. But beyond Pearson, the history of NF1 intersects with art, mistaken identity, and a persistent cultural confusion that has shaped how the public understands the condition for over a century.
Adam Pearson and the Visibility of NF1
Adam Pearson first gained wide attention through the 2013 film Under the Skin, starring opposite Scarlett Johansson. His career has since expanded into advocacy, television presenting, and leading film roles. In early 2024, he starred in A Different Man, a film that foregrounded his character’s talent alongside his facial difference rather than treating it as a plot device or object of pity.1Pediatrics. Representation of Facial Differences in Animated Films Pearson has spoken publicly about growing up with NF1, the dozens of surgeries he has undergone, and the social barriers that come with having a visibly different face. His presence in mainstream cinema is unusual: people with NF1 rarely see themselves represented on screen, and when facial differences do appear in film, they tend to be attached to villains rather than protagonists.
Pearson’s visibility matters partly because NF1 is not especially rare. It affects roughly one in every 3,000 people worldwide, making it one of the more common genetic conditions. Yet public awareness remains low, and what awareness exists is often tangled up with a famous historical misidentification.
The Elephant Man Was Not the Elephant Man
For decades, Joseph Merrick, the Victorian-era Englishman exhibited as “The Elephant Man,” was assumed to have had severe neurofibromatosis. The 1980 David Lynch film The Elephant Man cemented this idea in popular culture. The problem is that Merrick almost certainly did not have NF1. Modern medical analysis points instead to Proteus syndrome, a different and far rarer condition involving overgrowth of bone, skin, and other tissues. Despite this correction, which has been established in the medical literature for years, the confusion persists in news coverage, online health resources, and even among some physicians.2PubMed Central. Neurofibromatosis type 1 and the “elephant man’s” disease: the confusion persists: an ethnographic study
This is not a harmless mix-up. Research has shown that because many doctors have limited knowledge of NF1, the lingering association with Merrick’s extreme presentation distorts expectations in both directions. Some patients report being told their condition will inevitably become severely disfiguring, when most people with NF1 have a much milder course. Others find that the dramatic imagery associated with “The Elephant Man” feeds social stigma, making people assume the worst when they hear the diagnosis. The confusion has been documented as affecting quality of life, reproductive decisions, and access to appropriate genetic counseling.3PubMed Central. Neurofibromatosis type 1 and the “elephant man’s” disease: the confusion persists: an ethnographic study
What NF1 Actually Looks Like
Neurofibromatosis type 1 was first formally described in 1882 by the German pathologist Friedrich von Recklinghausen, though earlier physicians had documented the tumors decades before.4PubMed. A history of von Recklinghausen’s NF1 It is caused by mutations in the NF1 gene on chromosome 17, which encodes a protein called neurofibromin. That protein normally helps keep cell growth in check. When it does not work properly, cells along nerves can grow unchecked, forming benign tumors called neurofibromas.5PubMed Central. Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis The protein essentially acts as a brake on a growth-promoting pathway: without it, that pathway stays switched on more than it should.6Communications Biology. The therapeutic potential of neurofibromin signaling pathways and binding partners
The hallmark early sign is café-au-lait spots: flat, coffee-colored patches on the skin that often appear in infancy. Having six or more of these spots larger than a certain size is one of the classic diagnostic criteria. Research has found a dose-response relationship: the more café-au-lait spots a person has, the higher the likelihood of developing more significant features of the condition, including plexiform neurofibromas, which are larger, deeper tumors that can grow along nerve trunks and sometimes cause serious complications.7PubMed Central. Café-Au-Lait Macules in Neurofibromatosis Type 1: Birthmark or Biomarker?
The condition is highly variable, even within the same family. Some people have only café-au-lait spots and a handful of small skin-level neurofibromas that cause few problems. Others develop hundreds of visible tumors, bone abnormalities, or, in a minority of cases, malignant tumors of the nerve sheath. This unpredictability is one of the most frustrating aspects for patients and families: the diagnosis alone does not tell you how severe the course will be.
Why NF1 Has Such a High Rate of New Cases
About half of all NF1 cases arise as new, spontaneous mutations rather than being inherited from a parent. This is an unusually high rate for a genetic condition, and it means that many people diagnosed with NF1 are the first in their family to have it. The NF1 gene is very large, which makes it a bigger target for random copying errors during DNA replication. Multiple studies over the decades have estimated the mutation rate at somewhere in the range of three to ten per 100,000 gametes per generation, making NF1 one of the highest known spontaneous mutation rates for any single-gene disorder.8PubMed. Neurofibromatosis-1: a maximum likelihood estimation of mutation rate9Journal of Medical Genetics. A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity.
This has practical implications. Parents who are told their child has NF1 often feel guilty, as though they somehow passed on a flaw. In roughly half of cases, neither parent carries the mutation at all. The condition simply appeared. Genetic counseling can help clarify this, but as the research on the “Elephant Man” confusion showed, access to informed counseling is uneven.
NF1 Is Not Just About Tumors
The public image of NF1 focuses on skin tumors and visible differences, but the condition also has significant cognitive and developmental effects that get far less attention. About half of children with NF1 experience problems with academic achievement.10PubMed. Learning disabilities in children with neurofibromatosis type 1: subtypes, cognitive profile, and attention-deficit-hyperactivity disorder These are not typically profound intellectual disabilities. Most children with NF1 have IQ scores within the normal range, though often somewhat below average. The issues tend to center on specific learning difficulties, attention problems, and executive function challenges like working memory and planning.11PubMed. Systematic Review and Meta-analysis of Executive Functions in Preschool and School-Age Children With Neurofibromatosis Type 1
There is significant overlap with ADHD: children with NF1 are diagnosed with attention-deficit-hyperactivity disorder at much higher rates than the general population.12PubMed. Learning disabilities in children with neurofibromatosis type 1: subtypes, cognitive profile, and attention-deficit-hyperactivity disorder These learning and attention differences are thought to stem from the role neurofibromin plays in brain development, not from the tumors themselves. For many families, the cognitive effects of NF1 end up having a bigger day-to-day impact than the physical ones, especially in childhood, when academic demands are highest and social hierarchies can be cruel. Yet school systems and even pediatricians sometimes fail to connect these learning struggles to the underlying diagnosis, treating them as separate issues rather than part of the same condition.
The Stigma Problem
Visible neurofibromas carry a social cost that is hard to quantify but easy to see in patient accounts. The tumors are benign, but they attract stares, unsolicited comments, and assumptions about contagion or hygiene that have no basis in reality. NF1 is genetic; you cannot catch it from someone. A recent study developing a stigma scale specifically for cutaneous neurofibromas found that stigma scores correlated with anxiety, depression, and reduced quality of life, and that the effect was especially pronounced in people with a hundred or more visible tumors.13British Journal of Dermatology. Stigmatization related to cutaneous neurofibromas in neurofibromatosis 1: development, validation and severity strata of the cNF-PUSH-D
Pop culture does not help. Film and television have a long history of using facial differences as visual shorthand for villainy. An analysis of top-grossing films over four decades found that while the number of villains with facial differences has stayed roughly stable, heroes with such features have only recently begun to appear. Villains’ facial differences also tend to be depicted as larger and more prominent than those of heroes, reinforcing the unconscious link between visible difference and moral corruption.14Empirical Studies of the Arts. Exploring Film as Popular Art Promoting Scarred Villain Trope Adam Pearson’s career pushes directly against this convention, and he has been vocal about the damage it does.
NF1 in Historical Art
While Pearson is the most visible modern figure with NF1, traces of the condition appear much further back in history, not through famous individuals but through art. A fifteenth-century painting by Andrea Mantegna, La Camera degli Sposi, depicts a maid in a court scene with features strongly suggestive of NF1, including facial neurofibromas, café-au-lait spots on the cheeks and chin, and what appear to be Lisch nodules in the irises.15JID Innovations. Accounting for Biological Sex and Gender Identity in the Pathogenesis, Artistic Depictions, and Quality of Life in Neurofibromatosis Type 1 An eighteenth-century illustration in the French naturalist Buffon’s Histoire Naturelle shows a young girl named Maria Herig with multiple skin lesions consistent with the condition, including areas of hyperpigmentation and what may be a plexiform neurofibroma encircling her trunk.16JID Innovations. Accounting for Biological Sex and Gender Identity in the Pathogenesis, Artistic Depictions, and Quality of Life in Neurofibromatosis Type 1
These historical depictions are medically interesting because they show that NF1 was present and observable long before it had a name. They are also socially interesting because of who gets depicted. Research on historical NF1 imagery has noted a gender bias: women with the condition appear in these early sources at a higher rate than medical case studies of the same period might suggest, often as anonymous figures in illustrations rather than as named patients receiving care. The condition was being seen and recorded, but the people affected were not always being treated.
NF2 and Schwannomatosis Are Different Conditions
One source of confusion worth clearing up: neurofibromatosis is not one disease but a family of related conditions. NF1, discussed throughout this article, is the most common. NF2 (now often called NF2-related schwannomatosis) involves a different gene on a different chromosome and primarily causes tumors on the nerves responsible for hearing and balance. Its hallmark is bilateral vestibular schwannomas, tumors that grow on both hearing nerves and progressively cause hearing loss, ringing in the ears, and sometimes facial weakness.17PubMed Central. Integrating Ataxia Evaluation into Tumor-Induced Hearing Loss Model to Comprehensively Study NF2-Related Schwannomatosis NF2 is much rarer than NF1 and generally does not produce the visible skin tumors that most people associate with neurofibromatosis. A third condition, schwannomatosis (caused by mutations in still other genes), produces painful tumors on peripheral nerves but typically spares the hearing nerves.18PubMed Central. Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis The three conditions share a name and some superficial overlap, but they involve different genes, different tumor types, and different clinical courses.
Treatment Advances That Changed the Landscape
For most of the history of NF1, treatment was limited to surgically removing individual tumors as they became problematic. That remains an option, and for people with hundreds of small cutaneous neurofibromas, laser ablation has become a faster alternative. CO2 lasers and erbium YAG lasers can remove large numbers of skin-level tumors in a single session. Comparative studies have found that erbium YAG laser ablation produces better cosmetic results than CO2 laser treatment or electrosurgery, with less scarring and discoloration at long-term follow-up.19PubMed. Comparative study of CO2- and Er:YAG laser ablation of multiple cutaneous neurofibromas in von Recklinghausen’s disease20PubMed Central. Carbon Dioxide Laser Treatment of Cutaneous Neurofibromas
The bigger shift came with drug therapy. In 2020, the FDA approved selumetinib (brand name Koselugo) for children with NF1 who have inoperable plexiform neurofibromas. Plexiform neurofibromas are the larger, deeper tumors that can wrap around nerves and organs. They were previously untreatable without surgery, and many are inoperable due to their location. In the trial that led to approval, 70% of children had confirmed tumor shrinkage, and most of those responses lasted at least a year.21PubMed Central. Selumetinib in Children with Inoperable Plexiform Neurofibromas Selumetinib works by blocking part of the very signaling pathway that goes into overdrive when neurofibromin is missing. A retrospective study looking at both selumetinib and a related drug, trametinib, found that while outright tumor shrinkage occurred in about a quarter of patients, the majority achieved stable disease, meaning the tumors stopped growing, which itself represented a meaningful improvement in symptoms and daily functioning.22PubMed Central. Safety and Efficacy of Mek Inhibitors in the Treatment of Plexiform Neurofibromas: A Retrospective Study
These drugs are not cures, and they come with side effects including skin rash, gastrointestinal problems, and effects on the heart that require monitoring. But for children with large, painful, or functionally disabling plexiform neurofibromas, they represent the first real medical alternative to watching and waiting. Clinical trials are ongoing to see whether MEK inhibitors can help adults with NF1 as well, and research is also exploring their potential for preventing the rare but serious transformation of benign neurofibromas into malignant nerve sheath tumors.
NF1 in Other Species
One of the stranger corners of NF1 research involves animals. Spontaneous neurofibromatosis-like conditions have been documented in several large animal species, with tumors that share biological and clinical similarities with human NF1, including neurofibromas and malignant peripheral nerve sheath tumors.23PubMed Central. Spontaneous and Engineered Large Animal Models of Neurofibromatosis Type 1 These naturally occurring animal cases have become valuable for research because they allow scientists to study how NF1-like tumors develop and respond to treatment in ways that are difficult to study in humans. Engineered animal models, particularly in pigs and other larger animals whose body size and physiology are closer to humans than mice, are helping researchers test new therapies before they reach clinical trials. The existence of NF1-like disease across species also reinforces how fundamental the Ras signaling pathway that neurofibromin regulates is to animal biology: it is conserved across a wide range of species, and disrupting it produces recognizably similar problems whether in a human, a pig, or a cow.