Turku Neurofibromatosis Centre:
patient care and research

The Turku Neurofibromatosis Centre is the only neurofibromatosis (NF) centre in Finland. It provides consultation and follow-up for patients from all over the country. The Centre combines clinical expertise with internationally acknowledged research.

The Centre is led by Dr. Sirkku Peltonen, Department of Dermatology, University of Turku and Turku University Hospital and by professor Juha Peltonen, Institute of Biomedicine, University of Turku.

The members of the team include specialists in dermatology, ophthalmology and pulmonary medicine, and a resident in oncology.

The care of the NF patients takes place in the Turku University Hospital and the research laboratories are situated in the Institute of Biomedicine. The two facilities are closely located within the same campus (University Health Campus Turku, UHCT). 

Patient care: Multidisciplinary management and medical expertise

The NF clinic works within the Department of Dermatology and has been operative since 2000. The NF clinic provides care for patients with neurofibromatosis and other genodermatoses. The clinical team includes two physicians, a nurse and a social worker at the Department of Dermatology, and an ophthalmologist at the Department of Ophthalmology. Consultations are available from all medical specialties, laboratory and radiology, including positron emission tomography (PET). A team of doctors from various specialties meets regularly to plan treatments of complicated problems of NF1 patients.

Patients are referred to the Centre for consultations for NF and other genodermatoses by their physicians. Patients attend for out-patient appointments which include

• a clinical examination
• medical imaging
• referrals for other medical specialties, including genetic counselling and dentistry
• molecular diagnosis, if appropriate
• appointment with a social worker.

Patients from outside the catchment area of the Hospital District of Southwest Finland receive a consultation response which specifies the need for follow-up including consultations, imaging, surgery etc.  The response is sent to the patient and the referring physician for further management of the patient.  The patients from the catchment area of the Hospital District may attend for annual follow-up visits at the Centre after the first consultation.

Expert services at the Centre

• removal of disturbing cutaneous neurofibromas with CO₂ laser
• evaluation and treatment of the oral and craniofacial problems at the Department of Oral and Maxillofacial Diseases
• evaluation of bone health and treatment of osteoporosis based on the research and experience of the Centre.

​Research: From gene to population

Research published by the Turku Neurofibromatosis Centre: Neurofibromatosis group

Recent research on mutation analysis of NF1:

Uusitalo E, Hammais A, Palonen E, Brandt A, Mäkelä VV, Kallionpää R, Jouhilahti EM, Pöyhönen M, Soini J, Peltonen J, Peltonen S. Neurofibromatosis Type 1 gene mutation analysis using sequence capture and high-throughput sequencing. Acta Derm Venereol. 94(6):663-6, 2014

Epidemiology of NF:

Uusitalo E, Leppävirta J, Koffert A, Suominen S, Vahtera J, Vahlberg T, Pöyhönen M, Peltonen J and Peltonen S. Incidence and mortality of neurofibromatosis. A total population study in Finland. J Invest Dermatol 135:904-906, 2015

Uusitalo E, Rantanen M, Kallionpää RA, Pöyhönen M, Leppävirta J, Ylä-Outinen H, Riccardi VM, Pukkala E, Pitkäniemi J, Peltonen S, Peltonen J.

Distinctive Cancer Associations in Patients With Neurofibromatosis Type 1. J Clin Oncol. 34(17):1978-86, 2016

Uusitalo E, Kallionpää RA, Kurki S, Rantanen M, Pitkäniemi J, Kronqvist P, Härkönen P, Huovinen R, Carpen O, Pöyhönen M, Peltonen S, Peltonen J. Breast cancer in neurofibromatosis type 1: overrepresentation of unfavourable prognostic factors. Br J Cancer. 2016 Dec 8. doi: 10.1038/bjc.2016.403.

Craniofacial and oral symptoms of NF:

Visnapuu V, Pienihäkkinen K, Peltonen S, Happonen R-P, and Peltonen J: Neurofibromatosis 1 and dental caries. Clinical Oral Investigations 15:119-121, 2011

Visnapuu V, Peltonen S, Ellilä T, Kerosuo E, Väänänen K, Happonen R-P, Peltonen J:  Sexual Dimorphism in NF1: Periapical Cemental Dysplasia is Common in Women with NF1. Eur J Med Genet. 50(4):274-80, 2007

Visnapuu V, Peltonen S, Tammisalo T, Peltonen J, Happonen R-P:  Radiographical findings in the jaws of NF1 patients. J Oral Maxillofac Surg 70(6):1351-7, 2012

Jääsaari P, Visnapuu V, Nyström M, Peltonen S, Peltonen J, Happonen RP. Dental age in patients with neurofibromatosis 1. Eur J Oral Sci 120(6):549-52, 2012

Alivuotila L, Hakokari J, Visnapuu V, Korpijaakko-Huuhka AM, Aaltonen O, Happonen R-P, Peltonen S, and Peltonen J: Speech characteristics in neurofibromatosis type 1. Am J Med Genet A 152A:42-51, 2010

Bone abnormalities:

Heervä E, Huilaja L, Leinonen P, Peltonen S and Peltonen J: Follow-Up of Six Patients with Neurofibromatosis 1-Related Osteoporosis Treated with Alendronate for 23 Months. Calcif Tissue Int Calcif Tissue Int 94:608-612, 2014

Heervä E, Koffert A, Jokinen E, Kuorilehto T, Peltonen S, Aro HT and Peltonen J: A controlled register based study of 460 neurofibromatosis 1 (NF1) patients: Increased fracture risk in children and adults over 41 years. J Bone Miner Res 27:2333-2337, 2012