KRIT1-positive hyperkeratotic cutaneous capillary venous malformation.

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. © 2021 Wiley Periodicals LLC.

Citation

Bayan Matarneh, Catherine E Cottrell, Samantha Choi, Gregory Pearson, Bonita Fung, Selene C Koo, Anna P Lillis, Mai-Lan Ho, Esteban Fernandez Faith. KRIT1-positive hyperkeratotic cutaneous capillary venous malformation. Pediatric dermatology. 2022 Mar;39(2):250-254

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PMID: 34964173

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