title: Progressive late-onset of cutaneous angiomatosis as possible sign of cerebral cavernous malformations.
abstract: BACKGROUND
  Cerebral cavernous malformations (CCM) comprise enlarged capillary cavities in the central nervous system, with possible retinal or cutaneous vascular malformations. This condition is associated with CCM1, CCM2, and CCM3 gene mutations.
  
  
  OBJECTIVE
  Cutaneous clinical, histological and cerebral MRI findings, including CCM1, CCM2, and CCM3 gene sequencing, of two unrelated, neurological symptom-free patients who consulted for late-onset of deep multiple cutaneous angiomatoid lesions, are described.
  
  
  RESULTS
  The diagnosis of multiple cutaneous angiomatosis was confirmed and related to CCM as detected by MRI in both cases. Analysis of our patients showed normal nucleotide sequences of the genes proposed.
  
  
  CONCLUSIONS
  A progressive late-onset of multiple, deep cutaneous venous malformations may indicate the need to investigate a potential coexistence of CCM by MRI. Early diagnosis and prompt treatment is required in these patients. The absence of CCM1, CCM2, and CCM3 mutations might indicate that different genes could be involved in the pathogenesis of these late-onset patients. Careful questioning about family history of CCM is important; our first patient's daughter had a history of cerebral cavernoma.
authors.affiliation: Department of Dermatology, University of Rome Tor Vergata.
authors.forename: E
authors.initials: E
authors.lastname: Campione
authors.forename: L
authors.initials: L
authors.lastname: Diluvio
authors.forename: A
authors.initials: A
authors.lastname: Terrinoni
authors.forename: A
authors.initials: A
authors.lastname: Di Stefani
authors.forename: A
authors.initials: A
authors.lastname: Orlandi
authors.forename: S
authors.initials: S
authors.lastname: Chimenti
authors.forename: L
authors.initials: L
authors.lastname: Bianchi
mesh_terms: D000328:Adult; D000798:Angiomatosis / Q000209:etiology* / Q000473:pathology; D005260:Female; D020022:Genetic Predisposition to Disease; D020786:Hemangioma, Cavernous, Central Nervous System / Q000150:complications* / Q000235:genetics / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D060888:Real-Time Polymerase Chain Reaction; D017445:Skin Diseases, Vascular / Q000209:etiology* / Q000473:pathology