Segmental neurofibromatosis (a rare variant of a common genodermatosis): report of two cases
Keywords:
Neurofibromatosis, segmental neurofibromatosis, neurofibromaAbstract
Segmental neurofibromatosis is a rare variant of neurofibromatosis in which the lesions are confined to one segment or dermatome of the body. They resemble classical neurofibromas in their morphology, histopathology. However, systemic associations are usually absent. We report two cases representing with segmental distribution of neurofibromas on localized areas of the skin over back and chin respectively. They had negative family history and were lacking any systemic involvement.ÂReferences
Morse RP: Neurofibromatosis type 1. Arch Neurol 1999; 56: 364-5.
Hager CM, Cohen PR, Tschen JA. Segmental neurofibromatosis: case reports and review. J Am Acad Dermatol 1997; 37: 864-9.
Gammel JA. Localized neurofibromatosis. Arch Dermatol 1931; 24: 712-3.
Schultz ES, Kaufmann D, Tinschert S et al. Segmental neurofibromatosis. Dermatology 2002; 204: 296-7.
Ruggieri M, Huson SM. The clinical and diagnostic implications of mosaicism in the neurofibromatoses. Neurology 2001; 56: 1433-43.
Bari AU, Rahman SB. Segmental NF: An uncommon variant of a common disorder. J Coll Physician Surg Pak 2003; 13: 717-8.
Listernick R, Mancini AJ, Charrow J. Segmental neurofibromatosis in childhood. Am J Med Genet 2003; 121: 132-5.
Schwarz J, Belzberg AJ. Malignant peripheral nerve sheath tumors in the setting of segmental neurofibromatosis. Case report. J Neurosurg 2000; 92: 342-6.
Kumar S, Kumar RP. Multi-segmental neurofibromatosis. Indian J Dermatol Venereol Leprol 2004; 70: 361-3.
Tinschert S, Naumann I, Stegmann E et al. Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene. Eur J Hum Genet 2000; 8: 455-9.
Dorina LC, Antonieta DG, Josefa NS, Arturo GC. Segmental neurofibromatosis of facial localization. Int J Dermatol 2005; 44: 583-6.