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Telangiectasia in the Distribution of the Superior Vena Cava: A Novel Dermatological Manifestation of 22q11.2 Deletion Syndrome

Year: 2025

Type: article

Abstract: 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.

Source: Pediatric Dermatology

DOI: 10.1111/pde.16019

Authors: Aoife Hollywood, Olga Tummon, Maeve A. McAleer, Suzanne Kelleher, Alan D. Irvine

Institutions: Children's Health Ireland at Crumlin, Trinity College Dublin

Language: English

Topic: Genomic variations and chromosomal abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

OpenAlex ID: W4411769400

FWCI:

Cites: 9

Cited by:

Related to: 10