Related Experiment Video
Updated: Oct 8, 2025

A Patient-Derived Xenograft Model for Venous Malformation
Published on: June 15, 2020
KRIT1-positive hyperkeratotic cutaneous capillary venous malformation
Bayan Matarneh1, Catherine E Cottrell2,3, Samantha Choi3
1Division of Dermatology, Department of Pediatrics, Nationwide Children's Hospital, Columbus, Ohio, USA.
Abstract:
Cerebral cavernous malformations (CCM) may present in sporadic or familial forms, with different cutaneous manifestations including deep blue nodules, capillary malformations, and hyperkeratotic cutaneous capillary venous malformations (HCCVM). We report the case of an infant with a KRIT1-positive HCCVM associated with familial CCM. Moreover, histopathology showed positive immunohistochemical stain with GLUT1, further expanding the differential diagnosis of GLUT1-positive vascular anomalies.
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