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Article

Treatment of lipoid proteinosis due to the p.C220G mutation in ECM1, a major allele in Chinese patients.

Journal of translational medicine - 4 Apr 2014

Zhang Rong, Liu Yang, Xue Yang, Wang Yinan, Wang Xinwen, Shi Songtao, Cai Tao, Wang Qintao

Abstract excerpt

BACKGROUND: Lipoid proteinosis (LP) is known to be resulted from mutations of the extracellular matrix protein 1 gene (ECM1). However, no effective or sustained therapeutic methods to alleviate LP symptoms have been reported. METHODS: Here, we report a 12-year-old boy with LP and recurrent anaphylaxis. The laboratory and histopathological investigations were adopted to confirm the diagnosis, and gene sequencing...

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Identifiers

PMID: 24708644
DOI: 10.1186/1479-5876-12-85
PMCID: PMC4021827

Genes

ECM1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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