RESUMO
Capillary malformation-arteriovenous malformation (CM-AVM) is a rare condition characterized by multiple cutaneous capillary malformations with potential associated arteriovenous malformations. RAS p21 protein activator 1 (RASA1) and ephrin type-B receptor 4 (EPHB4) genes are implicated. We present a child with CM-AVM, due to EPHB4 mutation, and Ebstein's anomaly. Although EPHB4 is a known effector of vascular remodeling, its contribution to cardiogenesis is still being explored. Further research is needed to determine causality of Ebstein's anomaly in the setting of CM-AVM due to EPHB4 mutation.
Assuntos
Malformações Arteriovenosas , Anomalia de Ebstein , Malformações Arteriovenosas/genética , Capilares/anormalidades , Criança , Anomalia de Ebstein/genética , Humanos , Mutação , Mancha Vinho do Porto , Proteína p120 Ativadora de GTPase/genéticaRESUMO
Squamous and basal cell carcinomas with perineural invasion are typically difficult to treat because of their propensity to metastasize, their aggressive nature, and the concept of skip lesions. Perineural invasion is an under-recognized and underdiagnosed condition even though the literature points to its high rate of incidence in squamous cell carcinoma and a nonnegligible incidence rate in basal cell carcinoma. Perineural invasion has been linked to higher recurrence rates and poorer prognosis. This review has been written to aid clinicians in identifying and managing the condition as early as possible by describing the clinical and microscopic manifestations of perineural invasion.