KRIT1-positive hyperkeratotic cutaneous capillary venous malformation.

Authors :: Matarneh B
Cottrell CE
Choi S
Pearson G
Fung B
Koo SC
Lillis AP
Ho ML
Fernandez Faith E
Source :: Pediatric dermatology [Pediatr Dermatol] 2022 Mar; Vol. 39 (2), pp. 250-254. Date of Electronic Publication: 2021 Dec 28.
Publication Year :: 2022
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.<br /> (© 2021 Wiley Periodicals LLC.)