Results 21 to 30 of about 214 (125)

Exome sequencing in patient‐parent trios suggests new candidate genes for early‐onset primary sclerosing cholangitis

open access: yesLiver International, Volume 41, Issue 5, Page 1044-1057, May 2021., 2021
Abstract BACKGROUND & AIMS Primary sclerosing cholangitis (PSC) is a rare bile duct disease strongly associated with inflammatory bowel disease (IBD). Whole‐exome sequencing (WES) has contributed to understanding the molecular basis of very early‐onset IBD, but rare protein‐altering genetic variants have not been identified for early‐onset PSC.
Sjoukje‐Marije Haisma   +19 more
wiley   +1 more source

Case for diagnosis. Lichen myxedematosus [PDF]

open access: yesAnais Brasileiros de Dermatologia, 2016
Scleromyxedema or lichen myxedematosus is a rare papular mucinosis of chronic and progressive course and unknown etiology. It is commonly associated with monoclonal gammopathy and may show extracutaneous manifestations, affecting the heart, lung, kidney,
Priscila Regina Orso Rebellato   +3 more
doaj   +1 more source

Acral papular mucinosis: a new case of this rare entity [PDF]

open access: yesAnais Brasileiros de Dermatologia, 2016
Acral persistent papular mucinosis (APPM) is a rare subtype of localized lichen myxedematosus. It consists of small papules localized exclusively on the back of the hands, wrists and extensor aspects of distal forearms with no other clinical or ...
María Encarnación Gómez Sánchez   +4 more
doaj   +1 more source

Scleromyxedema

open access: yesJDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 18, Issue 12, Page 1449-1467, December 2020., 2020
Summary Scleromyxedema is a rare, cutaneous deposition disorder from the group of mucinoses, which can affect multiple organs and is virtually always associated with a monoclonal gammopathy. Cutaneous manifestations are usually generalized, 2 to 3 mm sized, dome‐shaped or flat‐topped, waxy, slightly red to skin‐colored papules and sclerodermoid ...
Jochen H. O. Hoffmann, Alexander H. Enk
wiley   +1 more source

Escleromixedema associado a miocardiopatia Scleromyxedema with associated cardiomyopathy

open access: yesAnais Brasileiros de Dermatologia, 2004
Relato de um caso de escleromixedema com lesões cutâneas associadas a miopatia, disfunção esofageana e paraproteinemia. Durante a evolução, a paciente apresentou sintomas de insuficiência cardíaca congestiva (ICC) que foram relacionados à miocardiopatia,
Gladys Aires Martins   +2 more
doaj   +1 more source

Mucinose Folicular: revisão da literatura e relato de um caso Follicular mucinosis: literature review and case report

open access: yesAnais Brasileiros de Dermatologia, 2002
A mucinose follicular (MuF), também chamada de alopecia mucinosa, é mucinose cutânea caracterizada pelo acúmulo de mucina no folículo pilossebáceo. As mucinoses têm duas formas de apresentação: uma idiopática ou primária, e outra sintomática ou associada
Antônio de Pádua Marques da Fonseca   +4 more
doaj   +1 more source

Pretibial mucinosis in an euthyroid patient [PDF]

open access: yesAnais Brasileiros de Dermatologia, 2016
A case of exuberant pretibial mucinosis in a patient with normal thyroid function is reported. A review of literature on possible etiologies other than thyroid disease for the accumulation of mucin in the pretibial area is presented.
Laura de Mattos Milman   +4 more
doaj   +2 more sources

Scleredema associated with Sjögren’s syndrome [PDF]

open access: yesAnais Brasileiros de Dermatologia, 2015
Scleredema adultorum of Buschke is a rare disorder characterized by diffuse swelling and non-pitting induration of the skin usually involving the face, neck, arms and upper trunk.
João Alves   +4 more
doaj   +2 more sources

Caso para diagnóstico Case for diagnosis

open access: yesAnais Brasileiros de Dermatologia, 2006
É relatado um caso de nevo mucinoso em adolescente do sexo masculino que apresentava lesões papulosas acastanhadas assintomáticas, confluentes em placas de distribuição linear no quadril esquerdo, surgidas aos 14 anos de idade.
Ana Luiza Baeta Pereira Barbosa   +2 more
doaj   +1 more source

Escleromixedema: um caso tratado com prednisona oral [PDF]

open access: yesAnais Brasileiros de Dermatologia, 2006
O escleromixedema é uma mucinose cutânea idiopática caracterizada por erupção papulosa, induração da pele e paraproteinemia. Histologicamente, se observa proliferação de fibroblastos na derme superior associada a depósito de mucina.
Pedro Bezerra da Trindade Neto   +3 more
doaj   +3 more sources

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