RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.

Capillary malformation-arteriovenous malformation (CM-AVM) is an autosomal-dominant disorder, caused by heterozygous RASA1 mutations, and manifesting multifocal CMs and high risk for fast-flow lesions. A limited number of patients have been reported, raising the question of the phenotypic borders. We identified new patients with a clinical diagnosis of CM-AVM, and patients with overlapping phenotypes.

BCGitis in a patient with transient hypogammaglobulinemia of infancy.

Reactions to the Bacille Calmette-Guerin (BCG) vaccine are not uncommon and have been reported in association with immunodeficiency syndromes. We report a case of an infant developing a localized BCG reaction, confirmed histologically, associated with transient hypogammaglobulinemia of infancy. Conservative management of localized BCG reactions is appropriate in most cases.