KRIT1-positive hyperkeratotic cutaneous capillary venous malformation

Area of Science:

• Vascular malformations
• Dermatology
• Genetics

Background:

• Cerebral cavernous malformations (CCM) are vascular anomalies that can present sporadically or as familial conditions.
• Cutaneous manifestations of CCM include deep blue nodules, capillary malformations, and hyperkeratotic cutaneous capillary venous malformations (HCCVM).

Observation:

• This report details a case of an infant diagnosed with a KRIT1-positive HCCVM.
• The infant's condition was associated with familial CCM.

Findings:

• Histopathological examination of the HCCVM revealed positive immunohistochemical staining for GLUT1.
• This finding is significant as it expands the differential diagnosis for GLUT1-positive vascular anomalies.

Implications:

• The case broadens the understanding of cutaneous manifestations in familial CCM.
• It underscores the importance of considering GLUT1 staining in the diagnosis of vascular anomalies, particularly in infants.
• This case contributes to the growing knowledge base of rare genetic vascular disorders.