Neurofibromatosis type 1: clinical cases and overview of the guidelines for surveillance
General Medicine, 2024, 26(5), 16-19.
M. Levkova1,2, M. Hachmeriyan1,2, Hr. Hristozova3,4
1 Laboratory of Medical Genetics, UMHAT “Sveta Marina” – Varna
2 Department of Medical Genetics, Medical University – Varna
3 Clinic of Children Clinical Hematology and Oncology, UMHAT “Sveta Marina” – Varna
4 Department of Pediatrics, Medical University – Varna
Abstract. Neurofibromatosis 1 (NF1) is among the common genetic diseases, which is easily recognizable due to typical neurofibromas and pigment spots of the café-au-lait type. However, even with these basic diagnostic criteria present, there may still be difficulties in identifying patients with NF1 due to the phenotypic variability of the disease. However, early diagnosis of NF1 is of utmost importance due to the increased risk of malignant diseases and the need for regular screening of patients from the moment they are diagnosed, regardless of their age. We present two clinical cases of NF1, in which the disease was diagnosed in infancy, as well as latest recommendations for monitoring such patients. In both cases, early diagnosis of NF1 allows patients to receive the necessary medical care and regular screening for malignant diseases and other complications, which is essential for the good prognosis in such patients.
Key words: neurofibromatosis type 1, café-au-lait spots, malignant diseases, screening
Address for correspondence: Mariya Levkova, e-mail: genetikavarna@svetamarina.com