Gigantism of the lower limb can occur because of plexiform neurofibromas. This condition is seen with café au lait patches and multiple neurofibromatosis in this case of von Recklinghausen neurofibromatosis. We report our patient and review literature of this uncommon condition.
Kohn SR. The elephant man [letter]. N Engl J Med1979;301:947.
2.
Riccardi VM. Von Recklinghausen neurofibromatosis. N Engl J Med1981;305:1617-1626.
3.
Crowe FW. Axillary freckling as a diagnostic aid in neurofibromatosis. Ann Intern Med1964;61:1142-1143.
4.
Lisch K. Ueber Beteiligung der Augen, insbesondere das Vorkommen von Irisknotchen bei der Neurofibromatose (Recklinghausen). Augenheilkunde 1937;93:137-43.
5.
Johnson BL, Charneco DR. Cafe au lait spot in neurofibromatosis and in normal individuals. Arch Dermatol1970;102:442-446.
6.
Nicolls EM. Somatic variation and multiple neurofibromatosis. Hum Hered1979;19:473-479.
7.
Thappa DM, Jeevankumar B, Karthikeyan K. Bilateral giant plexiform neurofibromas in neurofibromatosis type 1. Ind J Derm2002;47:41-43.
8.
Salyer WR, Salyer DC. The vascular lesions of neurofibromatosis. Angiology1974;25:510-519.
9.
Clark RD, Hutter JJ Jr. Familial neurofibromatosis and juvenile chronic myelogenous leukemia. Hum Genet1982;60:230-232.
Voutsinas S, Wynne-Davies R. The infrequency of malignant disease in diaphyseal aclasis and neurofibromatosis. J Med Genet1983;20:345-349.
12.
Evans DG, Baser ME, McGaughran J, Sharif S, Howard E, Moran A. Malignant peripheral nerve sheath tumours in neurofibromatosis 1. J Med Genet2002;39:311-314.
13.
King AA, DeBaun MR, Riccardi VM, Gutmann DH. Malignant peripheral nerve sheath tumors in neurofibromatosis 1. Am J Med Genet2000;93:388-392.
14.
Krone W, Hogemann I. Cell culture studies on neurofibromatosis (von Recklinghausen): V. Monosomy 22 and other chromosomal anomalies in cultures from peripheral neurofibromas. Hum Genet1986;74:453-455.
15.
Duncan AM, Partington MW, Soudek D. Neurofibromatosis in a man with a ring 22: in situ hybridization studies. Cancer Genet Cytogenet1987;25:169-174.
16.
Littler M, Morton NE. Segregation analysis of peripheral neurofibromatosis (NF1). J Med Genet1990;27:307-310.
17.
Lazaro C, Ravella A, Gaona A, Volpini V, Estivill X. Neurofibromatosis type 1 due to germ-line mosaicism in a clinically normal father. N Engl J Med1994;24:331:1403-1407.
