Familial Primary Localized Cutaneous Amyloidosis Results from Either Dominant or Recessive Mutations in OSMR
نویسندگان
چکیده
منابع مشابه
Familial primary localized cutaneous amyloidosis results from either dominant or recessive mutations in OSMR.
© 2015 The Authors. doi: 10.2340/00015555-2104 Journal Compilation © 2015 Acta Dermato-Venereologica. ISSN 0001-5555 Primary localized cutaneous amyloidosis (PLCA; MIM 105250) is a chronic itchy skin disorder associated with amyloid deposits in the superficial dermis (1). Clinically, most skin lesions comprise small, flat-topped papules (lichen amyloidosis) or brown-grey macules (macular amyloi...
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...
متن کامل[Disseminated nodular primary localized cutaneous amyloidosis].
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...
متن کاملCOL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.
UNLABELLED COL4A3/COL4A4 mutations: From familial hematuria to autosomal-dominant or recessive Alport syndrome. BACKGROUND Mutations of the type IV collagen COL4A5 gene cause X-linked Alport syndrome (ATS). Mutations of COL4A3 and COL4A4 have been reported both in autosomal-recessive and autosomal-dominant ATS, as well as in benign familial hematuria (BFH). In the latter conditions, however, ...
متن کامل[Localized primary cutaneous nodular amyloidosis in a patient with paraproteinemia].
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...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Acta Dermato Venereologica
سال: 2015
ISSN: 0001-5555
DOI: 10.2340/00015555-2104