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.

Cutaneous Venous Malformations Related to KRIT1 Mutation: Case Report and Literature Review / Grippaudo, Francesca Romana; Piane, Maria; Amoroso, Matteo; Longo, Benedetto; Silvana, Penco; Chessa, Luciana; SANTANELLI DI POMPEO, Fabio. - In: JOURNAL OF MOLECULAR NEUROSCIENCE. - ISSN 0895-8696. - STAMPA. - 51:2(2013), pp. 442-445. [10.1007/s12031-013-0053-1]

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

GRIPPAUDO, Francesca Romana;PIANE, Maria;Amoroso, Matteo;LONGO, Benedetto;CHESSA, Luciana;SANTANELLI DI POMPEO, Fabio
2013

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.
2013
krit1 gene mutation; anti smooth muscle antibody; skin nodules; vascular lesions; surgical excision
01 Pubblicazione su rivista::01a Articolo in rivista
Cutaneous Venous Malformations Related to KRIT1 Mutation: Case Report and Literature Review / Grippaudo, Francesca Romana; Piane, Maria; Amoroso, Matteo; Longo, Benedetto; Silvana, Penco; Chessa, Luciana; SANTANELLI DI POMPEO, Fabio. - In: JOURNAL OF MOLECULAR NEUROSCIENCE. - ISSN 0895-8696. - STAMPA. - 51:2(2013), pp. 442-445. [10.1007/s12031-013-0053-1]
File allegati a questo prodotto
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/517620
 Attenzione

Attenzione! I dati visualizzati non sono stati sottoposti a validazione da parte dell'ateneo

Citazioni
  • ???jsp.display-item.citation.pmc??? 6
  • Scopus 13
  • ???jsp.display-item.citation.isi??? 10
social impact