Treatment of lipoid proteinosis due to the p.C220G mutation in ECM1, a major allele in Chinese patients
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RESEARCH
Open Access
Treatment of lipoid proteinosis due to the p.C220G mutation in ECM1, a major allele in Chinese patients Rong Zhang1†, Yang Liu2†, Yang Xue3, Yinan Wang4, Xinwen Wang1, Songtao Shi5, Tao Cai6* and Qintao Wang1*
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 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. Keywords: Extracellular matrix protein 1, Lipoid proteinosis, Anaphylaxis, Glucocorticoid, Anaphylaxis, Treatment
Background Lipoid proteinosis (LP) (OMIM 247100), also known as Urbach-Wiethe disease, is a rare autosomal recessive genodermatosis characterized predominantly by hoarseness, variable scarring and infiltration of the skin and mucosa [1]. LP was first reported by Urbach and Wiethe in 1929, and originally named ‘lipoidosis cutis et mucosae’. This disorder typically presents warty skin infiltration, beaded papules along the eyelid margins, skin scarring, extracutaneous abnormalities, as well as hoarseness of the voice, epilepsy and neuropsychiatric abnormalities [2]. Histologically, there can be widespread deposition or accumulation of hyaline-like materials and
disruption or irregular reduplication of basement membrane around blood vessels and at the dermal-epidermal junction. Since pathological mutations were identified in the extracellular matrix protein 1 gene (ECM1) in 2002, more than 50 different cases with ECM1 mutations have been reported thus far, most of which were specific to individual families [3]. In this paper, we reported a homozygous mutation of ECM1 gene in a Chinese boy with LP and recurrent anaphylaxis. Notably, we present our experience from a pilot study for treating the patient with therapeutic glucocorticoid.
Methods * Correspondence: [email protected]; [email protected] † Equal contributors 6 Oral Medicine Research Institute, School of Stomatology, the Fourth Military Medical University, Xi’an 710032, P.R. China 1 State Key Laboratory of Military Stomatol
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