Meet Sirkku Peltonen, the professor who goes more than skin-deep

Neurofibromatosis (NF) belongs to the hereditary tumor syndromes. It affects many organs in the body — not only the skin but also the bones, eyes, blood vessels, peripheral and central nervous system, and hormonal systems*. The prefix “neuro-” (abbreviated as N) refers to nerves and a “fibroma” (F) is a benign tumor of connective tissue.

“Knowing plenty about cell or molecular biology and genetics is especially important when we meet these patients,” says Sirkku Peltonen, our new Professor of Dermatology and Venereology at the Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg.

What’s fascinating is if you don’t stop at what first meets the eye — the surface of the skin

Over the years, as her interest in epidemiology has grown, she has also begun to understand that a NF diagnosis affects much of psychosocial everyday life, not only for the person with the disorder but for the whole family and the community as well.

For many years, at Turku University Hospital, she ran her own clinic for NF and other genetic skin diseases. Patients are referred there, for consultation and review, by their treating physician.

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“It’s the only clinic specializing in NF as such, although all Finland’s university hospitals have clinics for other genodermatoses. The expert team that our clinic has access to comprises members from ten different specialties, including my husband Juha Peltonen, Professor of Cell Biology and Anatomy.”

Sirkku Peltonen was attracted to Sahlgrenska Academy by our job advertisement in the Finnish Medical Journal (Lääkärilehti). In November 2019, she flew here for an interview. Once the details had been settled, the plan was for Peltonen to start in August 2020. At the time, no one had any idea that a pandemic was imminent.

“Commuting weekly, as I first thought of doing, isn’t practicable because the flights have basically stopped running, and the whole trip by train from Gothenburg and home by ferry from Stockholm took 15 hours or so. And then there were 10 days of quarantine at home. So I’ve mostly stayed here in Sweden, and I suppose my initial time here hasn’t been as sociable and easy as one might wish for. But everyone I meet is so friendly and nice, so I’ve really enjoyed my job a lot,” she says in her charming Finnish accent.

She is trying to make the most of the time until people have been vaccinated and society can become more open again. She is greatly looking forward to being able to meet students and colleagues, and getting more involved.

Basic research in US and PhD before medical degree
Peltonen grew up in Lahti, Finland’s eighth-largest city, northeast of Helsinki. But there was no university there, so when the time came for higher education she moved to Turku to start the medical program there in 1983.

“It was only in my last high-school year that I decided a doctor was what I wanted to be. We didn’t have any physicians in the family then. Before, I’d been very interested in science and people, but I didn’t want to become a lawyer or a biologist. So medicine was a natural choice,” she says — and it is one she has never regretted.

After two years at medical school, she also began doing research alongside her studies, and did so for a further two years. Cells and basic research were what captured her interest — something she is now very grateful for.

“After my fourth year at university, I got the opportunity to move to Philadelphia, to continue my research at the Department of Dermatology & Cutaneous Biology, Thomas Jefferson University. While I was there, from 1987 to 1989, I completed my thesis on basic research about nerve connective tissue and neurofibromas, entitled The perineurial cell: expression of extracellular matrix genes in normal peripheral nerve and in cutaneous neurofibromas. But it wasn’t until I was back home in Turku, in 1989, that I gained my PhD and then completed the last two years of ‘medical school’,” Peltonen recounts.

During the two intensive years in the US, she learned a great deal about research conditions, basic research, and lab environments. This gave her experience that she believes more people — doctors and researchers alike — would benefit from early in their careers.

“The Department of Dermatology, where I worked, was headed by Jouni Uitto, a Finnish professor with a strong personality. He wasn’t that well known then, but now he’s recognized internationally for his research on connective-tissue biology and molecular genetics in connection with skin diseases. He’s still there, working as a professor at Thomas Jefferson University and a Jefferson University Physician.”

She learned more about skin and its structure, and the genes that cause skin diseases. There, too, she had colleagues who cloned genes for some genetic skin diseases. Since then, she has continued to be fascinated by this area of research.

Postdoc and mother instead of physician
“In the early 1990s, when I finished my degree, Finland was in a recession and it was almost impossible to find a job as a doctor. Instead, I started a postdoc at the University of Oulu in Northern Ostrobothnia in Finland, at the then Department of Medical Biochemistry and Molecular Biology. They had ample funding there, and I was a lab researcher for a year and a half. My husband Juha also got a job at the University of Oulu, in anatomy and cell biology.”

But after the birth of their first child, they moved home to Turku, where Peltonen took up a temporary job as a stand-in physician in specialist medical training at Turku University Hospital’s Dermatology Outpatient Clinic.

After completing her dermatology specialist training, she got a senior lecturer position that she has greatly enjoyed. She likes the teaching element and, at the same time, the job has enabled her both to stay at the Clinic and to continue with her research. She has now been there for almost 20 years.

“But in the past few years I’ve felt a desire to move on in my career, so when I saw the ad for the professorship in dermatology and venereology, I immediately sent in my application.”

Good conditions for epidemiology research thanks to Swedish Quality Registries
Basic research is important, Peltonen believes, and it has been a good background and experience for all her research. But epidemiology is now increasingly taking up her time. This involves how various environmental factors, upbringing, lifestyle and other living conditions, along with genetic factors, affect our health and diseases — both at individual level and in a population.

“In Finland, I’ve already done research about epidemiology and NF, and planned to extend it to other rare skin diseases. I’m now continuing with that work in my new position in Sweden.”

Here, at Sahlgrenska Academy and Sahlgrenska University Hospital, she has started a small research group that already includes two dermatologists. In this group, she now hopes to engage PhD and undergraduate medical students who wish to study and do research simultaneously, just as she used to do.

“In Finland, getting research funding is difficult, so being able to come to Sweden, where the situation is completely different, feels enormously advantageous. And it was impossible to turn down Peter Naredi’s stipulation — to get me to move to Sweden,” Peltonen says with a melodious Finnish laugh.

She also highlights the positive fact that there are such good national registers, and quality registries, for research in both Finland and Sweden.

Understanding of rare diseases enhanced by wide-ranging information
There are currently some 100 International Classification of Diseases (ICD) codes for rare skin diseases, but Peltonen believes there are actually about a thousand more. NF is one of the “most common” rare diseases, but for some diagnoses so few people are affected that research addressing them directly is not feasible.

The Swedish National Board of Health and Welfare has now chosen to classify these rare diseases and conditions under the heading “Rare health conditions”.

Clinic for genetic skin diseases now welcomed
Her employment contract also includes her appointment as clinical chief physician in skin diseases. And, starting in February, she is to have her own clinic for genetic skin diseases at Sahlgrenska University Hospital.

“At the Hospital, we need an expert group on NF, since people with the diagnosis often have problems with more than one organ at the same time. I hope I can now, jointly with the Center for Rare Diseases at Sahlgrenska University Hospital, contribute a team from various clinics that receive these patients.”

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Wanting to spend more time educating students
Apart from her research, Peltonen is involved in student education and contributing her experience there. But when she arrived, much planning had already been completed and, as mentioned above, the pandemic and associated restrictions made the fall different, so most contact with the students has been digital. This spring, the digital lectures will continue but, by the fall, she also hopes to meet the students in more “traditional” physical settings.

Spreading interest in basic research a challenge
“In many countries, neither medical students nor doctors are very interested in fundamental research, and if it’s done only by PhD students and researchers who aren’t physicians, the clinical orientation that generates important questions based on everyday clinical practice is lacking.”

For someone who knows nothing about cell or molecular biology and genetics, it may also be difficult to understand the mechanism of action underlying new medicines for cancer, inflammatory diseases, or the new vaccines and the like, Peltonen thinks. She wishes more people would continue to do research after finishing their theses — dare to commit, and go further and deeper.

“Studying rare diseases isn’t akin to philately, as some people like to claim, arguing that all researchers in this field are after is to find something totally unique. They’re wrong about that — the fact is that rare diseases not only have medical consequences for the ‘patients’ but also affect other factors in their lives, like their social and cognitive abilities. But there’s an even broader perspective here, since the condition also has repercussions on other, ‘healthy’ family members.”

Education, jobs and wage trends affected by NF
Just before Christmas, the research group in Finland run by Peltonen and her husband had a paper accepted for publication: “A rare disease and education: Neurofibromatosis type 1 decreases educational attainment.”.

“In it, we show that Finns with NF1 often have quite low educational attainment, and so don’t go on to higher education — especially those who develop cancer because of their NF. Another thing we found was that siblings’ educational attainment is low too, compared with other Finnish young people, although they themselves don’t have NF. The next publication, which we’re working on, will show that throughout life, people’s careers and wage trends are negatively affected by NF, compared with the controls without NF.”

In these studies, she is also collaborating with researchers in labor-market and health economics.

She now hopes that her research can also help others, such as government agencies, to understand that rare conditions affect not only people with NF but their families, too, to a much greater extent than previously thought.

“I want the public, too, to understand that skin diseases like these aren’t just superficial, on the skin, but really have major consequences that need to be considered, and not just in health care. This is true of other rare diseases as well, of course.”