RESUMO
A 57-year-old woman presented with periorbital ecchymoses, laxity in skin folds, polyneuropathy and bilateral carpal tunnel syndrome. A skin biopsy of the axillary lesion demonstrated fragmentation of elastic fibers, but with a negative von Kossa stain, consistent with cutis laxa. The diagnosis of primary systemic amyloidosis was made by the presence of amyloid material in the eyelid using histopathological techniques, besides this, the patient was also diagnosed with purpura, polyneuropathy, bilateral carpal tunnel syndrome and monoclonal gammopathy. She was diagnosed as suffering from multiple myeloma based on the finding of 40% plasma cells in the bone marrow, component M in the urine and anemia. The patient developed blisters with a clear content, confirmed as mucinosis by the histopathological exam. The final diagnoses were: primary systemic amyloidosis, acquired cutis laxa and mucinosis, all related to multiple myeloma.
Assuntos
Amiloidose/patologia , Cútis Laxa/patologia , Mucinoses/patologia , Mieloma Múltiplo/patologia , Dermatopatias/patologia , Biópsia , Progressão da Doença , Feminino , Humanos , Amiloidose de Cadeia Leve de Imunoglobulina , Pessoa de Meia-IdadeRESUMO
A 57-year-old woman presented with periorbital ecchymoses, laxity in skin folds, polyneuropathy and bilateral carpal tunnel syndrome. A skin biopsy of the axillary lesion demonstrated fragmentation of elastic fibers, but with a negative von Kossa stain, consistent with cutis laxa. The diagnosis of primary systemic amyloidosis was made by the presence of amyloid material in the eyelid using histopathological techniques, besides this, the patient was also diagnosed with purpura, polyneuropathy, bilateral carpal tunnel syndrome and monoclonal gammopathy. She was diagnosed as suffering from multiple myeloma based on the finding of 40% plasma cells in the bone marrow, component M in the urine and anemia. The patient developed blisters with a clear content, confirmed as mucinosis by the histopathological exam. The final diagnoses were: primary systemic amyloidosis, acquired cutis laxa and mucinosis, all related to multiple myeloma.
Mulher de 57 anos, com equimose periorbitária, frouxidão cutânea nas dobras, polineuropatia e síndrome do túnel do carpo bilateral.O exame histopatológico da lesão axilar revelou fragmentação de fibras elásticas, porém a coloração de von Kossa foi negativa;o diagnóstico foi de cútis laxa. Amiloidose sistêmica primária foi confirmada pela presença de material amilóide no exame histopatológico da pálpebra, além de púrpura, polineuropatia, síndrome do túnel do carpo bilateral e gamopatia monoclonal. Foi diagnosticada como portadora de mieloma múltiplo por apresentar 40% de plasmócitos na medula óssea, componente M urinário e anemia. A paciente evoluiu com bolhas de conteúdo citrino, cujo exame histopatológico mostrou mucinose. Os diagnósticos finais foram: amiloidose sistêmica primária, cútis laxa adquirida e mucinose, todos vinculados ao mieloma múltiplo.
Assuntos
Feminino , Humanos , Pessoa de Meia-Idade , Amiloidose/patologia , Cútis Laxa/patologia , Mucinoses/patologia , Mieloma Múltiplo/patologia , Dermatopatias/patologia , Biópsia , Progressão da DoençaRESUMO
Marshall's syndrome is a form of acquired cutis laxa without systemic involvement, which is preceded by an inflammatory dermatitis with a neutrophilic component. We report a case of a 6-year-old boy with clinical and histopathological features of this syndrome. The etiology remains unknown and there is no definitive treatment.
Assuntos
Cútis Laxa/patologia , Biópsia , Criança , Cútis Laxa/tratamento farmacológico , Humanos , Masculino , Pele/patologia , Síndrome , Resultado do TratamentoRESUMO
Acquired cutis laxa (ACL) is a rare connective tissue disorder that affects the skin elastic fibers, resulting in the loss of elasticity. In 50% of cases, this condition is associated with other diseases, particularly plasma-cell dyscrasias. This report describes a case of ACL with unusual clinical and histopathological characteristics. A 29-year-old man presented with diffuse erythematous plaques that had first appeared 5 months previously. Examination revealed multiple flaccid erythematous plaques on his trunk, neck, and skinfolds. Immunophenotyping of bone marrow aspirate revealed 7% of monoclonal plasma cells with lambda light chain expression. Skin biopsy histology revealed foci of interstitial granulomatous reaction. Weigert stain showed a loss of elastic fibers in the dermis, areas with thickened fibers and elastophagocytosis. Immunohistochemistry was positive for CD68. The cutaneous findings enabled an early diagnosis of IgG lambda monoclonal gammopathy to be made. Microscopic examination revealed an interstitial granulomatous reaction and severe alterations in the elastic fibers that varied in intensity in the different biopsies. Curiously, little has been mentioned in the literature regarding the presence of an interstitial granulomatous reaction in ACL. It is our belief that this reaction is secondary to the degenerative process of the elastic fibers.
Assuntos
Cútis Laxa/etiologia , Granuloma/etiologia , Imunoglobulina G/análise , Cadeias lambda de Imunoglobulina/análise , Paraproteinemias/complicações , Pele/patologia , Adulto , Biomarcadores/análise , Biópsia , Cútis Laxa/imunologia , Cútis Laxa/patologia , Diagnóstico Precoce , Tecido Elástico/patologia , Granuloma/imunologia , Granuloma/patologia , Humanos , Imuno-Histoquímica , Imunofenotipagem , Masculino , Paraproteinemias/diagnóstico , Paraproteinemias/imunologia , Valor Preditivo dos Testes , Pele/imunologiaRESUMO
Marshall´s syndrome is a form of acquired cutis laxa without systemic involvement, which is preceded by an inflammatory dermatitis with a neutrophilic component. We report a case of a 6-year-old boy with clinical and histopathological features of this syndrome. The etiology remains unknown and there is no definitive treatment.
Síndrome de Marshall é uma forma de cutis laxa adquirida, sem envolvimento sistêmico, que é precedida por uma dermatite inflamatória com componente neutrofílico. Relatamos o caso de um menino de 6 anos de idade com as características clínicas e histopatológicas desta síndrome. A etiologia desta doença permanece desconhecida e ainda não existe um tratamento definitivo. .
Assuntos
Criança , Humanos , Masculino , Cútis Laxa/patologia , Biópsia , Cútis Laxa/tratamento farmacológico , Síndrome , Pele/patologia , Resultado do TratamentoRESUMO
Cutis laxa is a rare disorder of connective tissue in which the skin sags excessively, giving the individual an aged appearance. In the present study we analyzed three unrelated families with type II autosomal recessive cutis laxa for mutations in three genes implicated in other forms of cutis laxa; LOX, FBLN4, and FBLN5 genes. Two individuals have been previously reported, and the third case is described in detail. No causative mutations were identified.
Assuntos
Cútis Laxa/genética , Sequência de Bases , Criança , Cútis Laxa/classificação , Cútis Laxa/patologia , Análise Mutacional de DNA , Primers do DNA/genética , Proteínas da Matriz Extracelular/genética , Feminino , Genes Recessivos , Heterozigoto , Homozigoto , Humanos , Recém-Nascido , Masculino , Mutação de Sentido Incorreto , Fenótipo , Polimorfismo de Nucleotídeo Único , Proteína-Lisina 6-Oxidase/genéticaRESUMO
Cutis laxa is a rare condition characterized by diminished elastic tissue. We report the histological changes from a 22-year-old male patient, who presented since 4 years hanging and inelastic facial skin, giving him an older appearance. The palpebral, preauricular and submandibular skin obtained after a facelift were examined. Conventional light microscopy with hematoxylin-eosin staining showed perivascular lymphocytic infiltrates and crossed-over collagen fibers. With Weigert staining, a lessening of elastic fibers with fragmentation, shortening and clumping was seen. The oxytalanic fibers in the papillary dermis were also affected, ranging from absence or reduction to flattening with clumping of the fibers, giving an irregular contour to the basal membrane zone. These findings were more intense in the palpebral skin. Transmission electronic microscopy showed reduction of the elastic fibers, a granular degeneration of the elastic tissue was found and collagen fibers were normal. Similar to light microscopy, at the ultrastructural level, the basal membrane has an irregular contour.
Assuntos
Cútis Laxa/patologia , Tecido Elástico/ultraestrutura , Adulto , Cútis Laxa/cirurgia , Tecido Elástico/cirurgia , Cabeça , Humanos , Masculino , Microscopia Eletrônica de Transmissão , Coloração e Rotulagem , Cirurgia Plástica , Resultado do TratamentoAssuntos
Artralgia/complicações , Cútis Laxa/etiologia , Tecido Elástico/ultraestrutura , Face , Pele/patologia , Adulto , Articulação do Tornozelo , Cútis Laxa/patologia , Cútis Laxa/cirurgia , Diagnóstico Diferencial , Humanos , Masculino , Microscopia Eletrônica de Transmissão , Procedimentos de Cirurgia Plástica/métodosRESUMO
We report a family in which geroderma osteodysplastica affected two male siblings. They showed the characteristic features associated with this syndrome: a prematurely aged face with wrinkly, lax skin, more prominent on the acral regions, associated with joint laxity, osteoporosis, and skeletal abnormalities. The main histologic abnormalities were fragmented elastic fibers that were diminished in number. Although collagen fibers showed changes in their orientation, they were normal in structure and number. We consider the differential diagnosis with other syndromes associated with cutis laxa using clinical, radiologic, and histopathologic criteria.