Cutaneous melanoma in a patient with neurofibromatosis

Abstract

Although neurofibromatosis and cutaneous melanoma are both diseases of neuroectodermal origin, reports of their association are rare. The case history of a patient with histologically documented neurofibromatosis and a nodular melanoma unrelated to a cafe-au-lait spot or congenital nevus is reported, and the literature reviewed. The appearance of only one patient with neurofibromatosis in a series of 900 patients with melanoma suggests that these diseases are probably not associated with greater frequency than that predicted by chance alone.

Pigment cell‐related manifestations in neurofibromatosis type 1: an overview

“…The simultaneous occurrence of malignant melanoma and NF1 was described for the first time in 1934 (Bjorneboe, 1934). In the last decades a number of clinical reports have described the occurrence of malignant melanoma in NF1 patients but a definite association has not yet been established (Gallino et al., 2000; Guillot & Delaunay, 1990; Karakayali et al., 1999; Mastrangelo et al., 1979; Miyauchi et al., 1988). Malignant melanoma in NF1 was seen at several sites including leptomeningeal, ocular, cutaneous and mucosal localization.…”

Melanocytic nevi are associated with neurofibromas in neurofibromatosis, type I, but not sporadic neurofibromas. A study of 226 cases*

“…These include café au lait macules, axillary and, or inguinal freckling, and plexiform neurofibromas that may be associated with overlying epidermal hyperpigmentation 1–3 . Previous publications have recorded an increased incidence of giant congenital melanocytic nevi 4 and possibly melanoma 5 in patients with neurofibromatosis, type 1. Normal skin in patients with neurofibromatosis, type 1 has a higher density of melanocytes than the normal skin of patients without neurofibromatosis 6 .…”

Fatal malignant melanoma in a child with neurofibromatosis type 1

“…Finally, allelic loss of the NF‐1 gene locus is not a rare event in desmoplastic neurotropic MM 31 . NF‐1 patients have an increased number of melanocytes in their CALMs as well as in their normal skin, suggesting a proliferative process of melanocytes in NF‐1 21 …”

“…Although rare, MM has been reported from several sites including leptomeningeal and cutaneous, with ocular MM being the most common in NF‐1 patients 1 . Cutaneous MM has been reported to occur in 0.1% to 5.4% of NF‐1 patients with approximately 26 cases reported in the literature mostly as individual observation or brief series 1,5–7,10–23 . The association between MM and NF‐1 was described for the first time in 1934 by Bjorneboe 4 .…”