Skin Deep: The Stigma of Rare Skin Disease

Rare skin diseases affect over 6.8 million patients worldwide (1). Though all dermatological patients have to deal with managing physical symptoms, those with visible conditions face other harmful challenges, especially in an online world where social media judgment is rife.

In late 2022, Nancy Morel – a popular influencer with an undiagnosed, rare skin disease – was openly criticized by Azadeh Shirazi, a dermatologist with 1.9 million followers on TikTok. Shirazi, who called Morel’s condition into question, labeled the 19-year-old as a “very talented makeup artist,” and went on to say that her condition didn’t seem “natural.” The since-deleted video received thousands of views, and invited a great deal of discussion and debate, particularly around the topic of “medical gaslighting.”

“This is a hot button issue for me. I hate it when I see medical professionals – many in my field – giving unsolicited opinions and advice about other people’s bodies – bodies which they have not examined. We have the potential to really damage someone – especially if we’re wrong,” said Kelly Killeen, Plastic Surgeon at Cedars-Sinai Medical Center, Los Angeles, US (2). 

In light of Rare Disease Day, we spoke to Christine Ko, Professor of Dermatology and Pathology at Yale School of Medicine, about the stigma of living with rare skin diseases, the struggles of misdiagnosis, and the toxic effects of social media.

What challenges are faced by patients with rare diseases?
 

One major challenge for patients with rare diseases is that there can be diagnostic delay or misdiagnosis. The rarer a disease is, the less likely the patient’s physician will be familiar with it. Doctors think the same way as everyone else; there are cognitive biases that influence us all – and these are particularly relevant to rare diseases. Availability bias often means that a physician will consider more common diagnoses because they come to mind more easily. Premature closure occurs when a diagnosis is made without the consideration of other potential possibilities. Confirmation bias is when there is a greater tendency to only look at supporting data – without considering data that may contradict a favored diagnosis. The dangers of misdiagnosis are broad, but chiefly – without the correct diagnosis – it is likely that the proper treatment and management plan will not be given.

How important is the doctor–patient relationship for the diagnosis and management of a rare skin condition?
 

The doctor–patient connection is key because patients really need to feel safe in order to share their worries, concerns, and personal tribulations. This is particularly important to people with rare diseases, where there may be a lack of information on the real-world, day-to-day experiences of a patient with the condition. So, it’s very important for the patient to feel comfortable with raising issues that bring them difficulty, as there may be ways to medically manage such factors.

What responsibility do practitioners have in protecting patient safety – even on social media? And what are the effects of discreditation?
 

I believe we would all be better off if we reserve judgment and not assume that we know all that is going on from a singular video, post, or comment. Social media is filled with criticism; it is important for us all to remember that we shouldn’t make hasty decisions. Cognitive bias affects us all, and one’s response to social media is also influenced by availability, premature closure, and confirmation bias. Having a knee-jerk response to discredit a patient on social media may – or may not be – valid. Incorrectly discrediting someone on social media, however, leads to a whole host of negative effects, including misdiagnosis and its associated dangers. 

What would you like other healthcare professionals to know about rare skin conditions?
 

There is no way for a doctor, even a truly excellent one, to have in-depth knowledge about every single disease. It is very important for doctors to partner with patients to ensure they receive the best possible care – for rare diseases, as well as more common ones – because every patient is unique.