Background: The transition to adult health care is challenging for adolescents and young adults (AYA) with Chronic Granulomatous Disease (CGD). This pilot study aimed to facilitate the learning of AYA with CGD about their health care and to aid in the development of life skills to enhance self-care.
Methods: AYA and caregivers (for participants <18 years of age) completed an adapted Transition Readiness Assessment. Educational sessions were held both in person and via telehealth and included virtual meetings with subject matter experts or a designated program mentor. Twenty-five participants were invited, 13 entered the pilot and 8 completed the transition readiness assessment.
Results: The pilot study was well-received by CGD participants and caregivers. In the future, a larger cohort may provide more data to comment on efficacy and outcome in the AYA population.
Conclusion: Expansion of an educational transition program for AYA with primary immunodeficiencies (PIDs) might be useful.
Vascular anomalies usually present at the beginning of life and vary in their course of progression and treatment. The pinpoint diagnosis of each lesion is often misdirected, owing to the complexity surrounding the classification. At the broadest level, differentiation between tumoral structures such as hemangiomas and other vascular malformations is required to not only select the correct procedure, but more importantly determining whether treatment is necessary. A 3-year-old patient presented to our institution with a vascular lesion in the scrotum, which had been labeled as a hemangioma. The unusual prognosis and continuous growth of the lesion suggested otherwise. Comprehensive clinical assessment was conducted, and the physical examination allowed for the accurate diagnosis of an arteriovenous malformation. The lesion was successfully excised without harm to the underlying structures. The authors uphold that misdiagnosis across vascular lesions is preventable through the correct clinical approach.