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Journal of Molecular Neuroscience

, Volume 51, Issue 2, pp 442–445 | Cite as

Cutaneous Venous Malformations Related to KRIT1 Mutation: Case Report and Literature Review

  • Francesca Romana Grippaudo
  • Maria Piane
  • Matteo Amoroso
  • Benedetto Longo
  • Silvana Penco
  • Luciana Chessa
  • Maria Giubettini
  • Fabio Santanelli
Article

Abstract

Cavernous malformations (CMs) are vascular anomalies of the nervous system mostly located in the brain. Cerebral cavernous malformations can present sporadically or familial, as a consequence of an autosomal dominant condition, with incomplete penetrance and variable clinical expression. Occasionally, extraneural manifestations of CMs involving the skin have been described. We report the case of two siblings presenting in adulthood diffuse cutaneous vascular lesions associated with cerebral CMs that, after surgical excision and histopathologic analysis, resulted to cavernous haemangiomas. Genomic DNA was extracted from peripheral blood, and molecular evaluation of KRIT1 gene was performed. Although no signs of neurological impairment were reported, cerebral MRI revealed multiple images in both patients, suggestive of cavernous haemangiomas. The genetic study demonstrated a nonsense mutation (c.535C>T) in the KRIT1 (Krev-1/rap1 interaction trapped 1) gene. Few reports describe extraneural manifestations of Cavernous malformation syndrome (CMs) related to a KRIT1 mutation; these involve the skin and are associated with hyperkeratotic cutaneous capillary–venous malformation. CMs should be suspected in patients developing multiple nodular cutaneous venous lesions in adulthood.

Keywords

Vascular lesions KRIT1 gene mutation Anti smooth muscle antibody Skin nodules Surgical excision 

Notes

Conflict of Interest

All the authors disclose any sponsorship of funding arrangement related to this study and declare that there are no conflicts of interest.

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Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  • Francesca Romana Grippaudo
    • 1
    • 5
  • Maria Piane
    • 2
  • Matteo Amoroso
    • 1
  • Benedetto Longo
    • 1
  • Silvana Penco
    • 3
  • Luciana Chessa
    • 2
  • Maria Giubettini
    • 4
  • Fabio Santanelli
    • 1
  1. 1.Plastic Surgery Department, S. Andrea Hospital, Faculty of Medicine and PsychologySapienza UniversityRomeItaly
  2. 2.Department of Clinical and Molecular Medicine, Faculty of Medicine and PsychologySapienza UniversityRomeItaly
  3. 3.Medical Genetics UnitNiguarda Ca’ Granda HospitalMilanItaly
  4. 4.Department of Anatomical Pathology and Histopathology, Faculty of Medicine and PsychologySapienza UniversityRomeItaly
  5. 5.RianoItaly

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