Von Recklinghausen disease (neurofibromatosis type 1): beyond skin involvement.

To cite: Rocha SM, Ferreira MB, Ribeiro R, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/ bcr-2013-200033 DESCRIPTION A 35-year-old black woman with Von Recklinghausen disease (or neurofibromatosis type 1) presented multiple café-au-lait spots, axillary freckling and multiple cutaneous neurofibromas, which were more expressive in the abdomen and trunk (figure 1). In the course of the disease, she developed nodular and diffuse plexiform neurofibromas, associated with mild pain and skin disfigurement (figure 1D). A CT scan was performed when she complained of lumbar pain, although she had a normal neurological examination. This study showed a heterogeneous lumbar mass involving the neurological structures and the electrophysiological examination proved a decreased conduction velocity in the left lower limb, supporting the diagnosis of neuropathy. According to her disease, this proximal nerve hypertrophy could have two major aetiologies—a benign internal complex plexiform neurofibroma or a malignant peripheral nerve sheath tumour (MPNST). Other genetic diseases, such as Charcot-Marie-Tooth disease, Dejerine-Sottas disease and Noonan disease, were considered and excluded considering the absence of personal and family history suggestive of those diseases. Acquired causes of neuropathy, like chronic inflammatory demyelinating polyradiculoneuropathy, were also ruled out after several studies (haemoglobin, erythrocyte sedimentation rate, fasting morning glucose levels, serum urea and creatinine, electrolytes, liver function, serum immunoelectrophoresis, serum immunophenotyping, antinuclear antibody, thyroid-stimulating