Telangiectasia in the Distribution of the Superior Vena Cava: A Novel Dermatological Manifestation of 22q11.2 Deletion Syndrome
The 22q11.2 deletion syndrome (22q11.2DS) is one of the most common microdeletion syndromes. It has a wide clinical spectrum, affecting multiple organ systems. Dermatological presentations are uncommon and often non-specific. We present two cases of 22q11.2DS presenting with strikingly similar matted telangiectasia in the distribution of the superior vena cava.
Authors
- Aoife Hollywood (ORCID: https://orcid.org/0000-0003-3529-1656)
- Suzanne Kelleher
- Olga Tummon (ORCID: https://orcid.org/0000-0002-2299-7601)
- Maeve A. McAleer (ORCID: https://orcid.org/0000-0001-9958-6504)
- Alan D. Irvine (ORCID: https://orcid.org/0000-0002-9048-2044)
Institutions
- Trinity College Dublin (IE)
- Children's Health Ireland at Crumlin (IE)
Publication Details
- Journal
- Pediatric Dermatology
- Published
- 2025-06-29
- DOI
- https://doi.org/10.1111/pde.16019
- Primary Topic
- Congenital heart defects research
- Type
- article
- Field-Weighted Citation Impact
- 0.00