Diffuse Neurofibroma in a Micronesian Male

Abstract

Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder, with variable clinical features, most commonly including café-au-lait macules and neurofibromas. The incidence of NF1 is approximately one in 3,000 individuals. Diffuse neurofibroma is the rarest subtype of neurofibromas. We present a case of a 39-year-old Micronesian male presenting with a substantially large and heavy overgrowth on his back, found to be consistent with diffuse neurofibroma on histopathologic examination. The patient also met the diagnostic criteria for NF1 based on clinical examination. Imaging showed the dermal and subcutaneous thickening without deep extension into the underlying fascial layer or muscles. A patient-centered, multidisciplinary approach was taken in the workup and management of this case. Our patient expressed disinterest in surgical interventions.