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

ABSTRACT:

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 was performed. We treated this patient with glucocorticoid for three years to relieve the patient's lipid metabolism disorder and symptoms related to LP and anaphylaxis.

Results

The Laboratory and histopathological investigations showed a lipid metabolism disorder and anaphylaxis in the patient. A homozygous missense mutation p.C220G of ECM1 was identified by San

SUBMITTER: Zhang R 

PROVIDER: S-EPMC4021827 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature