Work

Acrogeria and the diagnostic challenge of COL3A1 mutation

Year: 2026

Type: article

Abstract: Acrogeria and the diagnostic challenge of COL3A1 mutationDear Editor, Acrogeria is a rare genetic disorder characterised by premature ageing of acral skin.Vascular Ehlers-Danlos syndrome (vEDS), or type IV EDS, is an under-recognised cause of acrogeria.In this report, we emphasise the importance of careful recognition of vEDS as a cause of acrogeria.

Source: Indian Journal of Dermatology Venereology and Leprology

DOI: 10.25259/ijdvl_1901_2025

Authors: Mude Hemalatha, Thammannagowda Prarthana, Akash Mustari, Keshavamurthy Vinay

Institution: Post Graduate Institute of Medical Education and Research

Language: English

Topic: Connective tissue disorders research

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W7166376571