Pigmented plexiform neurofibroma: Distinction from a large congenital melanocytic nevus

Journal of the American Academy of Dermatology

Volumn 56, Issue 5, 2007, Pages 862-868

  Schaffer, Julie V ^a,b   Chang, Mary W ^a,b,d   Kovich, Olympia I ^a,c   Kamino, Hideko ^a,c   Orlow, Seth J ^a,b  

^a Departments of Dermatology

^b Pediatrics   (United States)

^c NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF CONNECTICUT SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CD57 ANTIGEN; GLIAL FIBRILLARY ACIDIC PROTEIN; MELAN A; MONOCLONAL ANTIBODY; MONOCLONAL ANTIBODY PNL2; UNCLASSIFIED DRUG;

ARTICLE; CAFE AU LAIT SPOT; CASE REPORT; CELL DIFFERENTIATION; CELL PROLIFERATION; CELL TYPE; CLINICAL FEATURE; DERMIS; DERMOEPIDERMAL JUNCTION; DIFFERENTIAL DIAGNOSIS; FEMALE; HISTOPATHOLOGY; HUMAN; HYPERPIGMENTATION; HYPERPLASIA; HYPERTRICHOSIS; IMMUNOHISTOCHEMISTRY; LENTIGO; MELANOCYTE; MELANOCYTIC NEVUS; NEUROFIBROMA; NEUROFIBROMATOSIS; NEUROSUSTENTACULAR CELL; NUCLEAR MAGNETIC RESONANCE IMAGING; PIGMENTED PLEXIFORM NEUROFIBROMA; PRESCHOOL CHILD; PRIORITY JOURNAL; SPINDLE CELL; SYMPTOM;

DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; INFANT; NEUROFIBROMA, PLEXIFORM; NEUROFIBROMATOSIS 1; NEVUS, PIGMENTED;

EID: 34147121521     PISSN: 01909622     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaad.2006.11.022     Document Type: Article

References (73)

1. Heuer G.J. Ein Fall von augedehntem Schwimmhosenartigem Nevus pigmentosus pilosus congenitus mit Hamatom des Rückens und Spina bifida occulta. Bruns Beitr Klinischen Chir 104 (1917) 388-400
2. Reed W.B., Becker Sr. S.W., Becker Jr. S.W., and Nickel W.R. Giant pigmented nevi, melanoma, and leptomeningeal melanocytosis: a clinical and histopathological study. Arch Dermatol 91 (1965) 100-119
3. Santa Cruz D.J., and Bashiti H. Bathing trunk nevus with extensive vascular involvement. J Cutan Pathol 6 (1979) 513-516
4. Solomon L., Eng A.M., Bené M., and Loeffel D. Giant congenital neuroid melanocytic nevus. Arch Dermatol 116 (1980) 318-320
5. Cawthon R.M., Weiss R., Xu G., Viskochil D., Culver M., Stevens J., et al. A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell 62 (1990) 193-201
6. Viskochil D., Buchberg A.M., Xu G., Cawthon R.M., Stevens J., Wolff R.K., et al. Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell 126 (1990) 187-192
7. Bousema M.T., Vuzevski V.D., Oranje A.P., Heule F., Stolz E., and van Joost T. Non-von Recklinghausen's neurofibromatosis resembling a giant pigmented nevus. J Am Acad Dermatol 20 (1989) 358-362
8. Zvulunov A., and Metzker A. Neurofibromatosis versus giant pigmented nevus. J Am Acad Dermatol 23 (1990) 956-957
9. Lycka B., Krywonis N., and Hordinsky M. Abnormal nevoblast migration mimicking neurofibromatosis. Arch Dermatol 127 (1991) 1702-1704
10. Whittam L.R., MacDonald D.M., and Hay R.J. A case of giant bathing trunk nevus with neurofibroma-like change. Clin Exp Dermatol 21 (1996) 167-169
11. Balloy B.C., Mallet V., Bassile G., Dubertret L., and Aractingi S. Disseminated blue nevus: abnormal nevoblast migration or proliferation?. Arch Dermatol 134 (1998) 245-246
12. Silfen R., Skoll P.J., and Hudson D. Congenital giant hairy nevi and neurofibromatosis: the significance of their common origin. Plast Reconstr Surg 110 (2002) 1364-1365
13. Gach J.E., Carr R.A., Charles-Holmes R., and Harris R. Multiple congenital melanocytic nevi presenting with neurofibroma-like lesions complicated by malignant melanoma. Clin Exp Dermatol 29 (2004) 473-476
14. McCann E., Fryer A.E., and Kokai G. Congenital melanocytic nevus with associated neurofibroma and schwannoma-like change. Clin Dysmorphol 14 (2005) 159-160
15. Sasmaz S., Celik S., Ciralik H., Arican O., and Gumusalan Y. A case of bathing trunk nevus studded with neurofibroma-like papules. Clin Dysmorphol 14 (2005) 41-43
16. Mar W.A., Bangert J., and Hansen R.C. Enlarging congenital pigmented plaque: neurofibroma. Arch Dermatol 140 (2004) 751-756
17. Sibon C., Chretein-Marquet B., Brousse N., and Fraitag S. Neurofibrome mélanotique. Ann Dermatol Venereol 131 (2004) 583-587
18. Mahé E., Zeller J., Wechsler J., Wolkenstein P., and Revuz J. Grandes taches pigmentées pileuses au cours de la neurofibromatose de type 1: une forme atypique de neurofibromes. Ann Dermatol Venereol 128 (2001) 619-621
19. Niimura M. Aspects in neurofibromatosis from the viewpoint of dermatology. J Dermatol 19 (1992) 868-872
20. Tanner M., Proksch E., and Christophers E. Neurofibromatose von Recklinghausen und dermale melanozytäre Nävi. Hautarzt 46 (1995) 263-267
21. Vabres P., de Lonlay P., Amiel J., Lyonnet S., Munnich A., and de Prost Y. Macules angiomateuses et cérulodermiques: signes cutanés précoces de la neurofibromatose de type I. Ann Dermatol Venereol 125 (1998) 593-594
22. Crowe F.W., Schull W.J., and Neel J.V. A clinical, pathological, and genetic study of multiple neurofibromatosis (1956), Charles C. Thomas Publishing, Springfield (IL) p. 181
23. Brasfield R.D., and Das Gupta T.K. Von Recklinghausen's disease: a clinicopathological study. Ann Surg 175 (1972) 86-104
24. Rubenstein A.E., Seitz S.C., Wallace S., Aron A.M., and Lebwohl M. Increased risk of congenital premalignant melanocytic nevi in neurofibromatosis. [abstract]. Neurology 35 (1985) 194
25. Castilla E.E., Dutra M.D.G., and Orioli-Parreirs I.M. Epidemiology of congenital pigmented nevi, I: incidence rates and relative frequencies. Br J Dermatol 104 (1981) 307-315
26. Gray M.H., Smoller B.R., McNutt N.S., and Hsu A. Neurofibromas and neurotized melanocytic nevi are immunohistochemically distinct neoplasms. Am J Dermatopathol 12 (1990) 234-241
27. Gray M.H., Smoller B.R., McNutt N.S., and Hsu A. Immunohistochemical demonstration of factor XIIIa expression in neurofibromas: a practical means of differentiating these tumors from neurotized melanocytic nevi and schwannomas. Arch Dermatol 126 (1990) 472-476
28. Odom R.B., James W.D., and Berger T.G. Andrews' diseases of the skin. 9th ed. (2000), WB Saunders, Philadelphia pp. 689-92
29. Grichnik J.M., Rhodes A.R., and Sober A.J. Benign hyperplasias and neoplasias of melanocytes. In: Freedberg I.M., Eisen A.Z., Wolff K., Austen K.F., Goldsmith L.A., and Katz S. (Eds). Fitzpatrick's dermatology in general medicine. 6th ed. (2003), McGraw Hill, New York 881-905
30. Mackie R.M. Disorders of the cutaneous melanocyte. In: Burns S., Breathnach S., Cox N., and Griffiths C. (Eds). Rook's textbook of dermatology. 7th ed. (2004), Blackwell Publishers, London pp. 38.1-39
31. Ball N.J., and Kho G.T. Melanocytic nevi are associated with neurofibromas in neurofibromatosis, type 1, but not sporadic neurofibromas: a study of 226 cases. J Cutan Pathol 32 (2005) 523-532
32. Shah P.A., Hassan I., and Nafee A. Bathing trunk nevus and neurofibromatosis type 1: a unique association of Friedrich's ataxia. J Indian Med Assoc 102 (2004) 327-328
33. Gallino G., Belli F., Tragni G., Ferro F., Massone P.P., Ditto A., et al. Association between cutaneous melanoma and neurofibromatosis type 1: analysis of three clinical cases and review of the literature. Tumori 86 (2000) 70-74
34. National Institutes of Health Consensus Development Conference. Neurofibromatosis statement. Arch Neurol 45 (1988) 575-578
35. DeBella K., Poskitt K., Szudek J., and Friedman J.M. Use of "unidentified bright objects" on MRI for diagnosis of neurofibromatosis 1 in children. Neurology 54 (2000) 1646-1650
36. Johnson B.L., and Charneco D.R. Café au lait spot in neurofibromatosis and in normal individuals. Arch Dermatol 102 (1970) 442-446
37. Duve S., and Rakoski J. Cutaneous melanoma in a patient with neurofibromatosis: a case report and review of the literature. Br J Dermatol 131 (1994) 290-294
38. Richetta A., Giustini S., Recupero S.M., Pezza M., Carlomagno V., Amoruso G., et al. Lisch nodules of the iris in neurofibromatosis type 1. J Eur Acad Dermatol Venereol 18 (2004) 342-344
39. De Schepper S., Boucneau J., Lambert J., Messiaen L., and Naeyaert J.M. Pigment cell-related manifestations in neurofibromatosis type 1: an overview. Pigment Cell Res 18 (2005) 13-24
40. Weidner N., Flanders D.J., Jochimsen P.R., and Stamler F.W. Neurosarcomatous malignant melanoma arising in a neuroid giant congenital melanocytic nevus. Arch Dermatol 121 (1985) 1302-1306
41. Roth M.J., Medeiros L.J., Kapur S., Wexler L.H., Mims S., Horowitz M.E., et al. Malignant schwannoma with melanocytic and neuroepithelial differentiation in an infant with congenital giant melanocytic nevus: a complex neurocristopathy. Hum Pathol 24 (1993) 1371-1375
42. Dupin E., Real C., Glavieux-Pardanaud C., Vaigot P., and Le Douarin N.M. Reversal of developmental restrictions in neural crest lineages: transition from Schwann cells to glial-melanocyte precursors in vitro. Proc Natl Acad Sci U S A 100 (2003) 5229-5233
43. Fetsch J.F., Michal M., and Miettinen M. Pigmented (melanotic) neurofibroma: a clinicopathologic and immunohistochemical analysis of 19 lesions from 17 patients. Am J Surg Pathol 24 (2000) 331-343
44. Motoi T., Ishida T., Kawato A., Motoi N., and Fukayama M. Pigmented neurofibroma: review of Japanese patients with an analysis of melanogenesis demonstrating coexpression of c-met protooncogene and microphthalmia-associated transcription factor. Hum Pathol 36 (2005) 871-877
45. Bednář B. Storiform neurofibromas of the skin, pigmented and nonpigmented. Cancer 10 (1957) 368-376
46. Bird C.C., and Willis R.A. The histogenesis of pigmented neurofibromas. J Pathol Bacteriol 97 (1969) 631-637
47. Payan M.J., Gambarelli D., Keller P., Lachard A., Garcin M., Vigouroux C., et al. Melanotic neurofibroma: a case report with ultrastructural study. Acta Neuropathol (Berl) 69 (1986) 148-152
48. Ito H., Akagi O., Nomura N., and Tahara E. Giant pigmented tumor of the scalp-a diffuse neurofibroma or a congenital nevus showing neurofibromatous changes? Immunohistochemical and electron microscopic studies. Histopathology 13 (1988) 181-189
49. Jurecka W. Pigmented neurofibroma. J Dermatol 15 (1988) 172-179
50. Smith K.J., Mezebish D., Williams J., Elgart M.L., and Skelton H.G. The spectrum of neurocristic cutaneous hamartoma: clinicopathologic and immunohistochemical study of three cases. Ann Diagn Pathol 2 (1998) 213-223
51. Schaffer J.V., and Bolognia J.L. Pilar neurocristic hamartoma. In: Nordlund J.J., Boissy R., Hearing V., King R., Oetting W., and Ortonne J.-P. (Eds). The pigmentary system: physiology and pathophysiology. 2nd ed. (2006), Blackwell, Oxford 1157-1162
52. Kos L., Aronzon A., Takayama H., Maina F., Ponzetto C., Merlino G., et al. Hepatocyte growth factor/scatter factor-met signaling in neural crest-derived melanocyte development. Pigment Cell Res 12 (1999) 13-21
53. Kunisada T., Yamazaki H., Hirobe T., Kamei S., Omoteno M., Tagaya H., et al. Keratinocyte expression of transgenic hepatocyte growth factor affects melanocyte development, leading to dermal melanocytosis. Mech Dev 94 (2000) 67-78
54. Takayama H., Nagashima Y., Hara M., Takagi H., Mori M., Merlino G., et al. Immunohistochemical detection of the c-met proto-oncogene product in the congenital melanocytic nevus of an infant with neurocutaneous melanosis. J Am Acad Dermatol 44 (2001) 538-540
55. Schaffer J.V., Orlow S.J., Lazova R., and Bolognia J.L. Speckled lentiginous nevus: within the spectrum of congenital melanocytic nevi. Arch Dermatol 137 (2001) 172-178
56. Happle R. Speckled lentiginous nevus syndrome: delineation of a new distinct neurocutaneous phenotype. Eur J Dermatol 12 (2002) 133-135
57. Finley E.M., and Kolbusz R.V. Segmental neurofibromatosis clinically appearing as a nevus spilus. Int J Dermatol 32 (1993) 358-360
58. Bhidayasiri R., and Pulst S.-M. Segmental unilateral lentiginosis in generalized neurofibromatosis type 1. Arch Neurol 59 (2002) 1331-1332
59. Selvaag E., Thune P., and Larsen T.E. Segmental neurofibromatosis presenting as a giant nevus spilus. Acta Derm Venereol 74 (1994) 327
60. Roth M.R., Martinez R., and James W.D. Segmental neurofibromatosis. Arch Dermatol 123 (1987) 917-920
61. Allegue F., España A., Fernández-García J.M., and Ledo A. Segmental neurofibromatosis with contralateral lentiginosis. Clin Exp Dermatol 14 (1989) 448-450
62. Wong S.S. Bilateral segmental neurofibromatosis with partial unilateral lentiginosis. Br J Dermatol 136 (1997) 380-383
63. Paik S.-C., Shim J.H., Lee J.-D., Cho B.K., and Kim C.W. Bilateral segmental neurofibromatosis with speckled lentiginous nevus. Int J Dermatol 35 (1996) 360-361
64. Chen W.C., Fan P.-C., and Happle R. Partial unilateral lentiginosis with ipsilateral Lisch nodules and axillary freckling. Dermatology 209 (2004) 321-324
65. Perkinson N.G. Melanoma arising in a café-au-lait spot of neurofibromatosis. Am J Surg 93 (1957) 1018-1020
66. Rütten A., and Goos M. Nevus spilus with malignant melanoma in a patient with neurofibromatosis. Arch Dermatol 126 (1990) 539-540
67. Guillot B., Dalac S., Delaunay M., Baccard M., Chevrant-Breton J., Dereure O., et al. Cutaneous malignant melanoma and neurofibromatosis type 1. Melanoma Res 14 (2004) 159-163
68. Papp T., Pemsel H., Zimmermann R., Bastrop R., Weiss D.G., and Schiffmann D. Mutational analysis of the N-ras, p53, p16INK4a, CDK4, and MC1R genes in human congenital melanocytic nevi. J Med Genet 36 (1999) 610-614
69. V600E mutation in acquired nevi and small congenital nevi, but low frequency of mutation in medium-sized congenital nevi. J Invest Dermatol 126 (2006) 2111-2118
70. Bauer J., Curtin J.A., Pinkel D., and Bastian B.C. Congenital melanocytic nevi frequently harbor NRAS mutations but no BRAF mutations. J Invest Dermatol 127 (2007) 179-182
71. Perry A., Roth K.A., Banerjee R., Fuller C.E., and Gutmann D.H. NF1 deletions in S-100 protein-positive and negative cells of sporadic and neurofibromatosis 1 (NF1)-associated plexiform neurofibromas and malignant peripheral nerve sheath tumors. Am J Pathol 159 (2001) 57-61
72. Crosti C., and Betti R. Inherited extensive speckled lentiginous nevus with ichthyosis: report of a previously undescribed association. Arch Dermatol 130 (1994) 393-395
73. Danarti R., König A., and Happle R. Large congenital melanocytic nevi may reflect paradominant inheritance implying allelic loss. Eur J Dermatol 13 (2003) 430-432