RESUMEN
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.
Asunto(s)
Agammaglobulinemia/diagnóstico , Agammaglobulinemia/etiología , Vacuna BCG/efectos adversos , Biopsia , Diagnóstico Diferencial , Humanos , Lactante , MasculinoRESUMEN
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. RASA1 was screened in 261 index patients with: CM-AVM (n = 100), common CM(s) (port-wine stain; n = 100), Sturge-Weber syndrome (n = 37), or isolated AVM(s) (n = 24). Fifty-eight distinct RASA1 mutations (43 novel) were identified in 68 index patients with CM-AVM and none in patients with other phenotypes. A novel clinical feature was identified: cutaneous zones of numerous small white pale halos with a central red spot. An additional question addressed in this study was the "second-hit" hypothesis as a pathophysiological mechanism for CM-AVM. One tissue from a patient with a germline RASA1 mutation was available. The analysis of the tissue showed loss of the wild-type RASA1 allele. In conclusion, mutations in RASA1 underscore the specific CM-AVM phenotype and the clinical diagnosis is based on identifying the characteristic CMs. The high incidence of fast-flow lesions warrants careful clinical and radiologic examination, and regular follow-up.