Treatment of lipoid proteinosis due to the p.C220G mutation in ECM1, a major allele in Chinese patients.
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 Sanger sequencing, which is a major allele in Chinese patients with LP. Notably, after three years' treatment, the symptoms such as skin lesions, stiff oral mucosa and hoarse voice in the patient were significantly relieved or recovered.


CONCLUSIONS
Our report may provide a potentially effective therapeutic approach for the first time to other LP patients who are experiencing recurrent anaphylaxis and/or chronic inflammation.
Rong
R
Zhang
Yang
Y
Liu
Yang
Y
Xue
Yinan
Y
Wang
Xinwen
X
Wang
Songtao
S
Shi
State Key Laboratory of Military Stomatology, Department of Periodontology, School of Stomatology, the Fourth Military Medical University, Xi'an 710032, P,R, China. cai1d8@yahoo.com.
Tao
T
Cai
Qintao
Q
Wang
D000483:Alleles; D002648:Child; D002681:China; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000208:ethnology / Q000628:therapy*; D008297:Male; D009154:Mutation; D010375:Pedigree
C490607:ECM1 protein, human; D016326:Extracellular Matrix Proteins