The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1
نویسندگان
چکیده
منابع مشابه
Clinical and Molecular Study of the Extracellular Matrix Protein 1 Gene in a Spanish Family with Lipoid Proteinosis
BACKGROUND Lipoid proteinosis (LP) is a rare autosomal recessive disorder characterized by a hoarse voice, variable scarring, and infiltration of the skin and mucosa. This disease is associated with mutations of the gene encoding extracellular matrix protein 1 (ECM1). CASE REPORT This was a clinical and molecular study of a new case of LP with a severe phenotype. A 35-year-old female born to ...
متن کاملN-Glycosylation of extracellular matrix protein 1 (ECM1) regulates its secretion, which is unrelated to lipoid proteinosis
Extracellular matrix protein 1 (ECM1) is expressed in a wide variety of tissues and plays important roles in extracellular matrix formation. Additionally, ECM1 gene mutations cause lipoid proteinosis (LP), a rare skin condition of genetic origin. However, an effective therapeutic approach of LP is not established. Here, we showed that ECM1 gene mutation observed in LP patients significantly sup...
متن کاملLipoid Proteinosis
A case of lipoid proteinosis presented with multiple papular lesions on the face and hoarseness of voice from early infancy. Five sibs of the patient were affected and one had died early in infancy, probably because of laryngeal obstruction.
متن کاملLipoid Proteinosis.
The case of a 37-year-old woman with lipoid proteinosis is presented. The first symptoms of hoarseness of voice occurred in puberty. Additional symptoms included beaded eyelid papules, macroglossia with yellowish papules, yellowish deposits of soft palate, popular eruption in the axillary area and tuberous nodules on the elbows.
متن کاملLipoid proteinosis.
Lipoid proteinosis is a rare, autosomal recessive disorder that presents in early infancy with hoarseness, followed by pox-like and acneiform scars, along with infiltration and thickening of the skin and certain mucous membranes. Histological and ultrastructural examination reveals widespread deposition of hyaline-like material and disruption/reduplication of basement membrane around blood vess...
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ژورنال
عنوان ژورنال: Experimental Dermatology
سال: 2007
ISSN: 0906-6705,1600-0625
DOI: 10.1111/j.1600-0625.2007.00608.x