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Extensive telangiectasias and mongolian spots: A clue towards GM1-gangliosidosis.

Authors :
Gupta, Sachin
Patel, Varniraj
Garg, Shivangi
Mehta, Nikhil
Source :
Indian Journal of Dermatology. Sep/Oct2023, Vol. 68 Issue 5, p573-574. 2p.
Publication Year :
2023

Abstract

The article focuses on GM1-gangliosidosis, a rare disorder characterized by β-galactosidase enzyme deficiency, discussing cutaneous manifestations like extensive telangiectasias and Mongolian spots. Topics include the clinical implications of these cutaneous clues in aiding diagnosis, the association of certain diseases with such cutaneous presentations, and their role as indicators of inborn errors of metabolism, particularly in lysosomal storage disorders.

Details

Language :
English
ISSN :
00195154
Volume :
68
Issue :
5
Database :
Academic Search Index
Journal :
Indian Journal of Dermatology
Publication Type :
Academic Journal
Accession number :
173995747
Full Text :
https://doi.org/10.4103/ijd.ijd_52_23