RESUMO
Ligneous conjunctivitis (LC) is a rare disease characterized by wood-like pseudomembranes developing on the ocular and extraocular mucosae secondary to plasminogen (PLG) deficiency. In this paper, we report two cases of LC in two sisters of 57 and 62 years of age that presented with recurrent, bilateral pseudomembranes on conjunctiva and a history of consanguinity and deafness. Pseudomembranes showed superficial and/or subepithelial deposits of eosinophilic amorphous hyaline, amyloid-like material with a variable proportion of granulation tissue, and inflammatory cells. The eosinophilic deposits were negative for Congo red stain, immunoreactive for fibrinogen, and consistently negative for amyloid A component, transthyretin, beta(2)-microglobulin, albumin, fibronectin, collagen type IV, vimentin, and cytokeratins. Among inflammatory cells, a percentage of positivity of roughly 60% for lymphocytes T (CD3+) and 40% for lymphocytes B (CD8+), with a relation of cytotoxic/helper (CD8/4) T cells of 3:2, was found. In one case, nasal polyps and recurrent gastric peptic ulcer were also characterized by the same subepithelial hyaline deposits. A novel homozygous point mutation c.1856 C>T was found in exon 15 of the PLG gene in both patients. Amniotic membrane transplantation was done in one case with promising results.
Assuntos
Conjuntivite/genética , Conjuntivite/patologia , Pólipos Nasais/genética , Pólipos Nasais/patologia , Úlcera Gástrica/genética , Úlcera Gástrica/patologia , Âmnio/transplante , Linfócitos T CD4-Positivos/patologia , Linfócitos T CD8-Positivos/patologia , Conjuntivite/diagnóstico , Éxons/genética , Olho/metabolismo , Olho/patologia , Feminino , Mucosa Gástrica/metabolismo , Mucosa Gástrica/patologia , Humanos , Hialina/metabolismo , Pessoa de Meia-Idade , Mucosa/metabolismo , Mucosa/patologia , Pólipos Nasais/diagnóstico , Plasminogênio/deficiência , Plasminogênio/genética , Plasminogênio/metabolismo , Mutação Puntual/genética , Irmãos , Úlcera Gástrica/diagnósticoRESUMO
OBJECTIVE: Our goal was to determine and compare the differential gene expression in allergic fungal sinusitis (AFS) and eosinophilic mucin rhinosinusitis (EMRS). STUDY DESIGN AND SETTING: We conducted a complementary DNA microarray analysis of prospectively gathered tissue from a tertiary rhinology practice. RESULTS: Compared to normal subjects, 38 genes or potential genes were differentially expressed in AFS patients, while 10 genes were differentially expressed in EMRS patients. Four genes differentially expressed in EMRS were not differentially expressed in AFS: cathepsin B, sialyltransferase 1, GM2 ganglioside activator protein, and S100 calcium binding protein. These genes mediate lysosomal activity and are known to have differential expression in inflammatory and neoplastic states. CONCLUSIONS: EMRS and AFS show some similarities in gene expression profiles using microarray analysis. Significant differences in gene expression in both EMRS and AFS patients compared with normal subjects provide early clues to the pathophysiology of EMRS and AFS. SIGNIFICANCE: This study demonstrates that complementary DNA microarray analysis is a feasible tool for studying different disease subclassifications and is the first to study these subclasses in chronic rhinosinusitis.