KRIT1‐positive hyperkeratotic cutaneous capillary venous malformation. Issue 2 (28th December 2021)

• Record Type: Journal Article
• Authors: Matarneh, Bayan; Cottrell, Catherine E.; Choi, Samantha; Pearson, Gregory; Fung, Bonita; Koo, Selene C.; Lillis, Anna P.; Ho, Mai‐Lan; Fernandez Faith, Esteban
• Is Part Of: Pediatric dermatology. Volume 39:Issue 2(2022)
• Page Start: 250
• Page End: 254
• Publication Date: 2021-12-28
• Subjects: capillary venous malformation -- cerebral cavernous malformation -- genetics -- KRIT1 -- vascular malformation; Pediatric dermatology -- Periodicals; Children -- Diseases -- Periodicals; 618.925
• DOI: 10.1111/pde.14900
• Languages: English
• ISSNs: 0736-8046

Abstract

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.