Intracranial cavernoma and speckled lentiginous nevus: extending the spectrum of phakomatoses?

Neurol Sci. 2010 Dec;31(6):841-4. doi: 10.1007/s10072-010-0401-7. Epub 2010 Sep 15.

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.

Publication types

  • Case Reports

MeSH terms

  • Diagnosis, Differential
  • Female
  • Hemangioma, Cavernous, Central Nervous System / complications
  • Hemangioma, Cavernous, Central Nervous System / diagnosis*
  • Hemangioma, Cavernous, Central Nervous System / pathology
  • Humans
  • Middle Aged
  • Neurocutaneous Syndromes / complications
  • Neurocutaneous Syndromes / diagnosis*
  • Neurocutaneous Syndromes / pathology
  • Nevus, Pigmented / complications
  • Nevus, Pigmented / diagnosis*
  • Nevus, Pigmented / pathology
  • Skin Neoplasms / complications
  • Skin Neoplasms / diagnosis*
  • Skin Neoplasms / pathology
  • Syndrome