engleski

Report of an adult patient with giant congenital nevus and a new diagnosis of neurocutaneous melanosis

Introduction: Neurocutaneous melanosis (NCM) is a rare syndrome characterized by the presence of a congenital melanocytic nevus in the skin, most commonly of the giant type, and aggregations of melanocytes within the central nervous system (CNS). Giant nevi carry an increased risk for the development of melanoma with the lifetime estimate of 5-10%, but melanoma can also develop from lesions found in the CNS. Due to the possible mass effect, CNS lesions can cause various neurological symptoms, regardless of their benign or malignant nature. Case report: A male patient first presented to our Department at the age of 21 years for preventive check-up of a nevus covering his back. According to the patient, nevus has been present since birth, has become hairier over the years, but did not show other changes. He did however complain of a slowly growing hump on his mid-back. At examination, he had a giant pigmented nevus densely covered with hairs, showing “bathing trunk” distribution over his entire back. In addition, there was one large-size and multiple intermediate- and small-size satellite nevi randomly distributed on the rest of the body. On dermatoscopy, lesions showed homogenous or reticular pattern. At mid-back, there was palpatory soft subcutaneous mass measuring about 20 cm. Given the posterior axial localization of the nevus, patient was evaluated for possible CNS involvement. He denied having headaches, vomiting, seizures, photophobia or lethargy and his neurological exam did not reveal any abnormalities. However, MRI showed changes consistent with NCM. There were hyperintense areas bilaterally within the amygdala and in ventral pons and leptomeningeal postcontrast opacifications in basal temporal lobes, the infratentorial region and the spinal canal dura. There was mega cisterna magna and cystic dilatation of the fourth ventricle, but with normally developed vermis which excluded malformation in the Dandy Walker spectrum. Furthermore, there were arachnoid cysts in posterior part of the spinal canal and a large thoracic subcutaneous lipoma. Conclusion: Such cases are very rare and require continuous dermatological follow-up aimed at detection of melanoma arising within the nevi, along with an interdisciplinary neurological and radiological monitoring to detect any changes related to the CNS involvement.

Neurocutaneous melanosis ; congenital melanocytic nevus ; melanoma

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