Cavernous malformations (CMs) are vascular anomalies of the nervous system mostly located in the brain. Cerebral cavernous malformations (CCM) can occur sporadically or as 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 sibs with cutaneous vascular lesions associated with cerebral CMs. After surgical excision, histopathological analysis demonstrated those lesions to be cavernous hemangiomas. Cerebral MRI revealed multiple images suggestive of cavernous hemangiomas in both patients, although no signs of neurological impairment were reported. The genetic study revealed in both patients a nonsense mutation (c.535C>T) in the KRIT1 gene, leading to a premature stop codon (p.R179X) and giving rise to protein truncation.
Cutaneous venous malformation due to krit1 mutation: a case report / Lulli, Patrizia; Grippaudo, Francesca Romana; Piane, Maria; L., Alesi; I., De Santis; M., Amoroso; S., Penco; SANTANELLI DI POMPEO, Fabio; Chessa, Luciana. - (2012). (Intervento presentato al convegno XV Congresso Nazionale SIGU tenutosi a Sorrento nel 21-24 novembre 2012).
Cutaneous venous malformation due to krit1 mutation: a case report
LULLI, Patrizia;GRIPPAUDO, Francesca Romana;PIANE, Maria;SANTANELLI DI POMPEO, Fabio;CHESSA, Luciana
2012
Abstract
Cavernous malformations (CMs) are vascular anomalies of the nervous system mostly located in the brain. Cerebral cavernous malformations (CCM) can occur sporadically or as 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 sibs with cutaneous vascular lesions associated with cerebral CMs. After surgical excision, histopathological analysis demonstrated those lesions to be cavernous hemangiomas. Cerebral MRI revealed multiple images suggestive of cavernous hemangiomas in both patients, although no signs of neurological impairment were reported. The genetic study revealed in both patients a nonsense mutation (c.535C>T) in the KRIT1 gene, leading to a premature stop codon (p.R179X) and giving rise to protein truncation.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
