Martino Ruggieri, Agata Polizzi, Stefano Catanzaro, Manuela Lo Bianco, Andrea D Praticò, Concezio Di Rocco
Neurocutaneous melanosis (NCM; MIM # 249400; ORPHA: 2481], first reported by the Bohemian pathologist Rokitansky in 1861, and now more precisely defined as neurocutaneous melanocytosis, is a rare, congenital syndrome characterised by the association of (1) congenital melanocytic nevi (CMN) of the skin with overlying hypertrichosis, presenting as (a) large (LCMN) or giant and/or multiple (MCMN) melanocytic lesions (or both; sometimes associated with smaller "satellite" nevi) or (b) as proliferative melanocytic nodules; and (2) melanocytosis (with infiltration) of the brain parenchyma and/or leptomeninges...
October 2020: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery