A Case of Neurofibromatosis with Giant Pigmentation, Diffuse Neurofibromas and a Pigmented Neurofibroma / 대한피부과학회지

A 31-year-old man presented with an erythematous tumor within a giant pigmentation on the left arm, which was partially covered with hairs and had a few subcutaneous nodules within it. Also he had a bluish tumor on the left palm, multiple tumors and cafe au lait spots on the upper trunk. Histologic examination from the tumor, pigmentation and subcutaneous nodules on the left arm, and the tumors on the upper trunk and left palm all revealed neurofibromas. Interestingly, the rare types of the neurofibromas, diffuse and pigmented neurofibroma were included in these.

Von Recklinghausen' s Disease with Plexiform Neurofibroma , Giant Pigmentation , and Skeletal Abnormalities / 대한피부과학회지

Plexiform neurofibroma is considered a pathognomic of Von Recklinghousen's disease, which involves the deep and large nerve trunk. These are large irregular nerve fascicles which result from an increase in endoneural matrix within individual nerve facicles, without an increased number of nerve fibers. We experenced a case of Von Recklinghausen's disease in a 24 year-old male who had variable cutaneous skeletal, and CNS lesions. He presented multiple neurofibromas, cafe-au-lait spots, and axillary freckles as common cutaneous lesions of NF-I and giant pigmentation, sacral hypertrichosis, and plexiform neurofibroma as unusual cutaneous lesions. Also he had a scoliosis, bowing deformity of the humerous and wedging deformity of the body of the 5th cervical spine as a skeletal manifestation and cortical calcification in the occipital area as a CNS manifestation.