KRIT1‐positive hyperkeratotic cutaneous capillary venous malformation
Copyright policy )KRIT1‐positive hyperkeratotic cutaneous capillary venous malformation
AbstractCerebral 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.
- St. Jude Children's Research Hospital United States
- Nationwide Children's Hospital United States
- The Ohio State University United States
Glucose Transporter Type 1, Hemangioma, Cavernous, Central Nervous System, Vascular Malformations, Humans, Skin Diseases, Vascular, KRIT1 Protein, Capillaries
Glucose Transporter Type 1, Hemangioma, Cavernous, Central Nervous System, Vascular Malformations, Humans, Skin Diseases, Vascular, KRIT1 Protein, Capillaries
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