Development of a multidisciplinary clinic of neurofibromatosis type 1 and other neurocutaneous disorders in Greece. A 3-year experience

ABSTRACT

Given the complexity of neurocutaneous syndromes, a multidisciplinary approach has been advocated in order to provide optimum care.

Subjects and Methods: Retrospective analysis of a cohort of 157 patients during a 3-year period, seen at a newly developed neurocutaneous clinic in a pediatric tertiary care hospital in Athens (Greece); and systematic chart review of the patients diagnosed with neurofibromatosis type 1 during this time period.

Results: The most frequent neurocutaneous syndromes were neurofibromatosis type 1 (NF1) in 89 patients and tuberous sclerosis complex in 17. In 20.38% of patients a neurocutaneous syndrome was not confirmed. Approximately 2/3 of the NF1 patients underwent genetic analysis, and for 76.67% of them, a pathogenic mutation on the NF1 gene was revealed. Eighty-one patients manifested with generalized NF1 and eight with mosaic NF1. Dermatological manifestations included café-au-lait macules in all patients, followed by axillary and/or inguinal freckling (n = 57), external plexiform neurofibromas (n = 17), and cutaneous and subcutaneous neurofibromas (n = 11). Approximately half of patients had learning disabilities and attention deficit hyperactivity disorder, followed by mental retardation (n = 9), autistic spectrum disorders (n = 4), headaches (n = 3) and seizures (n = 2). Neuroimaging showed characteristic areas of hyperintensity on T2-weighted images in 74.07% of patients and optic pathway glioma in 19.75%. Two patients developed malignant peripheral sheath nerve tumor.

Conclusions: Neurocutaneous syndromes are clinically heterogeneous and the surveillance of potential clinical complications is challenging. The availability of genetic diagnosis and novel imaging methods in this group of disorders is likely to further expand their clinical spectrum. Guidelines for assessment and management will need to be modified based on new available data.

KEYWORDS:

• Neurocutaneous
• neurofibromatosis
• optic nerve glioma
• neurofibromin
• cafe-au-lait macules

Acknowledgments

The authors would like to thank Panhellenic Neurofibromatosis Friends' and Patients' Association, and especially its president Mrs Lambrini Sotiropoulou, for their support to the development of this multidisciplinary clinic of neurofibromatosis type 1 in Greece.

Declaration of interest

The authors report no conflicts of interest. Peer reviewers on this manuscript have received an honorarium from Postgraduate Medicine for their review work but have no other relevant financial relationships to disclose.

Contribution statement

E. Kokkinou and R Pons: research design, acquisition, and interpretation of data, drafting the paper.

E Kokkinou, K Roka, A Alexopoulos, E Tsina, I Nikas, P Krallis, I Thanopoulou, L Nasi, E Makrygianni, I Tsoutsou, K Kosma, M Tsipi, Maria T, H Fryssira, A Kattamis, R Pons: acquisition of data; revising the paper critically.

Additional information

Funding

The authors confirm there has been no significant financial support for this work that could have influenced its outcome.