title: Intracranial cavernoma and speckled lentiginous nevus: extending the spectrum of phakomatoses?
abstract: Phakomatosis refers to several malformation syndromes with simultaneous involvement of the skin, the eye, and the central nervous system by developmental lesions. Speckled lentiginous nevus (SLN), a subtype of congenital melanocytic nevi, is usually an isolate, harmless finding. Here, we report the case of a 52-year-old woman with congenital left laterocervical SLN associated with an ipsilateral intracranial extra-axial cavernous angioma, a yet not described association to date. After revision of the literature, we suggest that both these lesions could be correlated in the setting of an atypical, yet unclassifiable form of phakomatosis, such as phakomatosis pigmentovascularis or SLN syndrome. We also propose that patients with bizarre, geometrical, pigmented or vascular cervicocranial skin lesions should undergo a thorough neurologic and ophthalmologic evaluation.
authors.affiliation: Cerebrovascular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. giorgio.boncoraglio@istituto-besta.it
authors.forename: Giorgio B
authors.initials: GB
authors.lastname: Boncoraglio
authors.forename: Eugenio A
authors.initials: EA
authors.lastname: Parati
authors.forename: Elisa
authors.initials: E
authors.lastname: Ciceri
authors.forename: Rosa
authors.initials: R
authors.lastname: Rinaldi
authors.forename: Giovanni L
authors.initials: GL
authors.lastname: Capella
mesh_terms: D003937:Diagnosis, Differential; D005260:Female; D020786:Hemangioma, Cavernous, Central Nervous System / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D008875:Middle Aged; D020752:Neurocutaneous Syndromes / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D009508:Nevus, Pigmented / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D012878:Skin Neoplasms / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D013577:Syndrome