KRIT1-positive hyperkeratotic cutaneous capillary venous malformation

Pediatr Dermatol. 2022 Mar;39(2):250-254. doi: 10.1111/pde.14900. Epub 2021 Dec 28.

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.

Keywords: KRIT1; capillary venous malformation; cerebral cavernous malformation; genetics; vascular malformation.

Publication types

  • Case Reports

MeSH terms

  • Capillaries / abnormalities
  • Capillaries / pathology
  • Glucose Transporter Type 1
  • Hemangioma, Cavernous, Central Nervous System* / complications
  • Humans
  • KRIT1 Protein
  • Skin Diseases, Vascular* / pathology
  • Vascular Malformations* / diagnosis
  • Vascular Malformations* / pathology

Substances

  • Glucose Transporter Type 1
  • KRIT1 Protein
  • KRIT1 protein, human

Supplementary concepts

  • Capillary Malformations, Congenital, 1