A Novel Missense Mutation in Oncostatin M Receptor Beta Causing Primary Localized Cutaneous Amyloidosis
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منابع مشابه
A Novel Missense Mutation in Oncostatin M Receptor Beta Causing Primary Localized Cutaneous Amyloidosis
Primary localized cutaneous amyloidosis (PLCA) is a chronic skin disorder, caused by amyloid material deposition in the upper dermis. Autosomal dominant PLCA has been mapped earlier to pathogenic missense mutations in the OSMR gene, which encodes the oncostatin M receptor ß subunit (OSMRß). OSMRß is interleukin-6 family cytokine receptors and possesses two ligands, oncostatin M and interleukin-...
متن کاملFamilial primary localized cutaneous amyloidosis in Brazil.
BACKGROUND Macular and lichen amyloidosis are clinical variants of primary localized cutaneous amyloidosis (PLCA). Most cases are sporadic, but approximately 10% of cases may be familial. To our knowledge, the clinicopathologic and molecular features of such pedigrees, however, have not been studied in detail. OBSERVATIONS We assessed 2 Brazilian families with either lichen-type (family 1 had...
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Amyloid is a proteinaceous material that is deposited in the tissues in a large variety of clinical contexts; in the skin it can be found with or without concomitant systemic disease. Primary localized cutaneous amyloidosis encompasses those amyloidoses restricted to the skin without involvement of other systems. The most common forms within this group are macular and lichen amyloidosis. Nodula...
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Amyloidosis of urinary bladder is a rare condition and may be primary or secondary in nature. A case of primary localized vesical amyloidosis (VA) in a 40-yr-old man is described confused with neoplasm by cystoscopic, urographic. Surgical specimens obtained by transurethral resection (TUR) were diagnostic and histologically revealed amyloid deposits in sub-epithelial stroma with chronic inflamm...
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The term primary cutaneous amyloidosis (PCA) refers to a group of diseases caused by the extracellular deposition of amyloid in the skin without the involvement of other organs. PCA has been divided into the following types: macular, lichen and nodular. The first 2 types are characterized by the deposition in the papillary dermis of amyloid derived from the degeneration of keratin filaments. Pr...
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ژورنال
عنوان ژورنال: BioMed Research International
سال: 2014
ISSN: 2314-6133,2314-6141
DOI: 10.1155/2014/653724