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Neurocutaneous melanosis with giant congenital melanocytic nevus and neurofibromatosis
[To cite: Bahl G, Upadhyay D, Maru P, Garg D, Hussain MS. Neurocutaneous melanosis with giant congenital melanocytic nevus and neurofibromatosis. Natl Med J India. DOI: 10.25259/NMJI_459_2024]
Neurocutaneous melanocytosis (NCM) is a rare congenital condition, distinguished by the presence of congenital melanocytic nevi (CMN) and melanocytosis of the brain and/or leptomeninges. An 18-year-old male presented with extensive black pigmented lesions covering his trunk, neck, and shoulders since birth, along with various systemic complaints. Physical assessment revealed a congenital nevus involving the entire trunk (bathing trunk pattern) along with café au lait spots all over the body (Fig. 1a, b). A large hyperpigmented plaque covered the major portion of his back, neck, upper chest, and axilla, with multiple satellite lesions involving the lower back, buttocks, and abdomen (Fig. 1c, d). Imaging of the right posterior back revealed well-defined hypo- to heteroechoic nodular lesions measuring 28 mm×20 mm in the subcutaneous fat plane in the posterior lumbar region, along with another smaller lesion measuring approximately 12 mm×6 mm representing neurofibromatosis. A skin biopsy from a raised, dark pigmented area showed melanocytic nevi, which led to a diagnosis of giant CMN with neurofibromatosis. Ultrasound of the right eye showed mild bulging of the optic nerve head (Fig. 2a). Magnetic resonance imaging of the dorsal spine showed nodular lesions of spinal meningeal melanocytosis/melanomatosis (Fig. 2b).
- (a-b) Congenital nevus involving the entire trunk (bathing trunk pattern) along with the presence of café au lait spots all over the body, (c-d) Large hyperpigmented plaque covering a major portion of the back, neck, upper chest, and axilla with multiple satellite lesions involving the lower back, buttock, and abdomen.
- (a) Ultrasound of the eye showed mild bulging of the optic nerve head in the right eye, (b) Magnetic resonance imaging of the dorsal spine with contrast showed multiple nodular lesions in thecal sac of the dorsal spine indicating spinal meningeal melanocytosis/melanomatosis.