Intramedullary and retroperitoneal melanocytic tumor associated with congenital blue nevus and nevus flammeus: an uncommon combination of neurocutaneous melanosis and phacomatosis pigmentovascularis--case report.
Neurocutaneous melanosis (NCM) is a rare condition characterized by central nervous system melanocytic tumors associated with congenital melanocytic nevi. Phacomatosis pigmentovascularis (PPV) is an association of vascular nevus with pigmentary nevus. Aberrant maturation of neural crest-derived cells is considered to be related to pathogenesis in both conditions. However, association of NCM and PPV has not been reported to the best of our knowledge. Melanocytoma, which usually involves the leptomeninges or spinal cord, is extremely rare in the retroperitoneum. We present here a case of a patient with NCM, PPV, and melanocytic tumors in the spinal cord and retroperitoneum, which were treated surgically. A 40-year-old woman had a 2-year history of dysesthesia and weakness in the left leg. History included congenital giant blue nevus-like lesion in the trunk, a port-wine stain in the sacral area, and Caesarean section performed 8 years before, when diffuse pigmentation in the peritoneum was noted. Magnetic resonance (MR) imaging of the spine revealed an intramedullary tumor at T10 level with paramagnetic signal characteristics. The spinal cord tumor was totally removed, and the histological diagnosis was melanocytoma. Three months later, a left retroperitoneal mass with histological features of melanocytic tumor was removed. Neither tumors recurred and the patient stays ambulatory 4 years after the surgery. Multiple subtypes of melanocytic tumors with distinctive features of NCM and PPV can develop simultaneously, mimicking malignant melanoma. Gross total resection of each tumor, when indicated, is beneficial.
Department of Neurologic Surgery, Dokkyo Medical University.
Ryu
R
Kurokawa
Phyo
P
Kim
Toshiki
T
Kawamoto
Hadzki
H
Matsuda
Shujiro
S
Hayashi
Soji
S
Yamazaki
Atsushi
A
Hatamochi
Shozo
S
Mori
Mitsugi
M
Shimoda
Keiichi
K
Kubota
D000328:Adult; D014408:Biomarkers, Tumor; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008543:Melanins / Q000032:analysis; D008545:Melanoma / Q000175:diagnosis; D058950:Melanoma-Specific Antigens / Q000032:analysis; D008548:Melanosis / Q000473:pathology*; D009363:Neoplasm Proteins / Q000032:analysis; D009378:Neoplasms, Multiple Primary / Q000473:pathology* / Q000601:surgery; D020752:Neurocutaneous Syndromes / Q000473:pathology*; D018329:Nevus, Blue / Q000151:congenital* / Q000473:pathology*; D009508:Nevus, Pigmented / Q000175:diagnosis / Q000473:pathology*; D019339:Port-Wine Stain / Q000473:pathology*; D019009:Proto-Oncogene Proteins c-kit / Q000032:analysis; D012186:Retroperitoneal Neoplasms / Q000473:pathology* / Q000601:surgery; D009418:S100 Proteins / Q000032:analysis; D013120:Spinal Cord Neoplasms / Q000473:pathology* / Q000601:surgery; D013904:Thoracic Vertebrae; D058951:gp100 Melanoma Antigen
D014408:Biomarkers, Tumor; D008543:Melanins; D058950:Melanoma-Specific Antigens; D009363:Neoplasm Proteins; C548637:PMEL protein, human; D009418:S100 Proteins; D058951:gp100 Melanoma Antigen; D019009:Proto-Oncogene Proteins c-kit