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Acta Derm Venereol ; 99(12): 1110-1115, 2019 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-31513274

RESUMO

Nail-patella syndrome is an autosomal dominant disorder characterized by nail dysplasia and skeletal anomaly. Some patients have been shown to have ultrastructural abnormalities of the glomerular basement membrane that result in nephrosis. However, little has been reported on the epidermal basement membrane in this condition. This paper reports 2 families with nail-patella syndrome. Direct sequencing analysis of LMX1B revealed that family 1 and family 2 were heterozygous for the mutations c.140-1G>C and c.326+1G>C, respectively. To evaluate the epidermal basement membrane zone, ultrastructural and immunohistochemical analyses were performed using skin specimens obtained from the dorsal thumb. Electron microscopy showed intact hemidesmosomes, lamina lucida, lamina densa, and anchoring fibrils. Immunofluorescence studies with antibodies against components of the epidermal basement membrane zone revealed a normal expression pattern among the components, including type IV collagen. These data suggest that nail dysplasia in patients with nail-patella syndrome is not caused by structural abnormalities of the epidermal basement membrane.


Assuntos
Membrana Basal/química , Membrana Basal/ultraestrutura , Colágeno Tipo IV/análise , Epiderme/química , Epiderme/ultraestrutura , Imunofluorescência , Microscopia Eletrônica de Transmissão , Síndrome da Unha-Patela/diagnóstico , Biomarcadores/análise , Criança , Feminino , Predisposição Genética para Doença , Heterozigoto , Humanos , Lactente , Proteínas com Homeodomínio LIM/genética , Masculino , Mutação , Síndrome da Unha-Patela/genética , Síndrome da Unha-Patela/metabolismo , Síndrome da Unha-Patela/patologia , Fenótipo , Valor Preditivo dos Testes , Fatores de Transcrição/genética
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