MULTIPLE INTERCOSTAL NEUROFIBROMAS IN A PATIENT WITH AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE

In a 55-year-old smoking man with end-stage renal disease (ESRD) due to autosomal dominant polycystic kidney disease (ADPKD), computed tomography of the chest was performed due to chronic cough. Multiple oval tumours (largest 32 mm ¥ 15 mm ¥ 12 mm) connected to intercostal nerves were noticed. There was no pleural infiltration or bone destruction. No symptoms or signs were reported. The changes were verified by magnetic resonance imaging as intercostal neurofibromas (Fig. 1). The patient underwent examinations for other features of neurofibromatosis 1 (NF1). However, he ultimately did not met the diagnostic criteria, and NF1 was excluded. The case is interesting, as coexistence of NF1 and ADPKD may impact patient’s outcome and management. Although intercostal neurofibroma may be observed in an individual without NF1, the presence of intercostal neurofibromas might be the first sign of NF1. Coexistence of NF1 and ADPKD is a very rare phenomenon. The awareness of the NF1 diagnosis in ESRD patients may be significant, as NF1 is a risk factor for neoplastic diseases. Renal transplantation, which should be considered, is also connected to increased risk of malignancy. Therefore, in the case of transplantation in a patient with NF1, he/she should undergo careful oncological screening. Additionally, including sirolimus into the immunosuppressive regimen should be considered due to its antineoplastic properties, and due to its influence on native polycystic kidneys and polycystic liver. The diagnostic criteria for NF1 include at least two of the following features: (i) six or more café-au-lait spots; (ii) two or more neurofibromas of any type or at least one plexiform neurofibroma; (iii) freckling in the axilla or groin; (iv) optic glioma; (v) two or more Lisch nodules of the iris; (vi) dysplasia of the sphenoid bone or the thinning of the long bone cortex; and (vii) first-degree relative with NF1. Ultimately, none of these features except neurofibromas were observed in our case. To our knowledge, there are no data in the published work concerning the risk of malignancy in individuals with isolated neurofibromas. Coexistence of NF1 and ADPKD, although rare, influences the patient management and should not be omitted. In patients with ADPKD and intercostal neurofibromas, evaluation for NF1 must be performed.