Özet:

Achromatic melanoma is difficult to diagnose clinically because the tumour is not pigmentary or is hypochromic and often poses differential diagnosis problems, requiring immunohistochemical investigations for confirmation. Diagnosis of cutaneous metastatic melanoma with direct identification of metastases is even more difficult in the absence of primary tumour. Neurofibromatosis type 1 (NF1), also called von Recklinghausen’s disease is one of the most common genetic diseases. The disease is characterized by pigmented skin macules, (café-au-lait spots), neurofibromas, soft fibroids and Lisch nodules. It is caused by the NF1 gene mutation whose function is to inactivate the oncogene RAS gene, which allows tumours to develop. This is a case of association between type 1 neurofibromatosis (NF1) and metastatic achromatic MM, this association being rarely published in the literature. The specificity of the case consists of the diagnostic difficulty of an achromatic metastatic MM without identifying the primary tumour and the association with NF1; therapeutic options are also discussed in metastatic melanoma, taking into account the suprainfection associated with melanoma cutaneous metastases.

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