Abstract
BackgroundLipoid 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.MethodsHere, 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.ResultsThe 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.ConclusionsOur 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.
Highlights
Lipoid proteinosis (LP) is known to be resulted from mutations of the extracellular matrix protein 1 gene (ECM1)
We reported a homozygous mutation of ECM1 gene in a Chinese boy with LP and recurrent anaphylaxis
The patient was the only child of his nonconsanguineous parents
Summary
Histopathological analysis Informed consent was obtained from the patient’s parents. Biopsy specimens were taken from the patient’s thickened and stiff tongue mucosa. Normal mucosa as a control was obtained from surgical specimens. PCR and Sanger sequencing Peripheral blood samples were taken from the affected patient and his parents. Gentra Puregene DNA kit (Qiagen, Valencia, CA, USA). Primers were designed for amplification of all exons of the ECM1 gene (see Additional file 1). The amplification conditions were 95°C for 5 min, followed by 35 cycles of 95°C for 1 min, annealing temperature (see Additional file 1) for 45 s, 72°C for 45 s. PCR products were analyzed by 2.5% agarose gel electrophoresis and purified using QIAquick PCR Purification Kit (Qiagen, Valencia, CA, USA) for sequencing in an ABI 310 Genetic Analyzer (Applied Biosystems, Foster City, CA). Clinical follow-up was carried out weekly for another one year to observe the endurance of the effect (see Additional file 2)
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