RESUMO
Ligneous conjunctivitis is a rare chronic form of recurrent membranous inflammation and plasminogen deficiency. Ocular manifestations may be associated with sites other than mucous membranes, such as the oral cavity, internal ear, respiratory, genitals, and kidney. Treatment is extremely difficult because of the lack of topic plasminogen drops, and a high volume is required for systemic supplementation. This report aimed to present two patients with ligneous conjunctivitis treated with membrane excision, topical fresh-frozen plasma, and heparin intra-, and postoperatively. No recurrence was found in the ligneous membrane in the 12-month follow-up. The use of topical fresh-frozen plasma and heparin after membrane excision could be effective to avoid recurrence.
Assuntos
Conjuntivite , Plasminogênio/deficiência , Dermatopatias Genéticas , Humanos , Conjuntivite/tratamento farmacológico , Conjuntivite/cirurgia , Dermatopatias Genéticas/complicações , Dermatopatias Genéticas/terapia , Heparina/uso terapêuticoRESUMO
Ligneous conjunctivitis is a rare form of chronic and recurrent bilateral conjunctivitis, in which thick membranes develop on the tarsal conjunctiva and on other mucosae. We report the case of a 55-year old female patient with bilateral ligneous conjunctivitis who was successfully treated with 50% heterologous serum. There was no recurrence or side effects after one-year follow-up. We suggest the use of 50% heterologous serum should be further studied to better determine its efficacy as a treatment option for ligneous conjunctivitis.
Assuntos
Plasminogênio/deficiência , Soro , Conjuntivite/patologia , Feminino , Humanos , Pessoa de Meia-Idade , Plasminogênio/uso terapêutico , Dermatopatias Genéticas/patologia , Resultado do TratamentoRESUMO
ABSTRACT Ligneous conjunctivitis is a rare form of chronic and recurrent bilateral conjunctivitis, in which thick membranes develop on the tarsal conjunctiva and on other mucosae. We report the case of a 55-year old female patient with bilateral ligneous conjunctivitis who was successfully treated with 50% heterologous serum. There was no recurrence or side effects after one-year follow-up. We suggest the use of 50% heterologous serum should be further studied to better determine its efficacy as a treatment option for ligneous conjunctivitis.
RESUMO A conjuntivite lenhosa é uma forma rara de conjuntivite bilateral crônica e recorrente, na qual há formação de membranas espessas na conjuntiva tarsal e em outras mucosas. Relatamos o caso de uma paciente de 55 anos com conjuntivite lenhosa bilateral, que obteve sucesso no tratamento com soro heterólogo em concentração de 50%. Não houve recorrência após um ano de seguimento e nem efeitos colaterais ao tratamento. Dessa forma, o uso de soro heterólogo a 50% poderia ser mais estudado para melhor avaliação de sua eficácia como opção de tratamento para a conjuntivite lenhosa.
Assuntos
Humanos , Feminino , Plasminogênio/deficiência , Soro , Plasminogênio/uso terapêutico , Dermatopatias Genéticas/patologia , Resultado do Tratamento , Conjuntivite/patologia , Pessoa de Meia-IdadeRESUMO
Ligneous conjunctivitis is an uncommon and recurrent type of chronic conjunctivitis. A prevalent cause of this disease is a Plasminogen deficiency, resulting from recessive mutations in the human encoding plasminogen (PLG) gene. This deficiency affects the conjunctiva and also other mucous membranes. Only few hundred cases have been reported in the literature. Here we report a case of a 9-year-old boy with diagnosis of ligneous conjunctivitis. Histopathological examination in hematoxylin-eosin (HE) staining and sequencing of PLG gene were performed to confirm diagnosis. Histopathological findings confirmed the diagnosis of ligneous conjunctivitis. The patient is compound heterozygous for c.1026T>G (p.Val342Gly) and c.2384G>C (p.Arg795Pro) mutations in PLG gene. Both mutations have not been described previously, and the bioinformatic analysis strongly suggests that are causative of the disease. To the best of our knowledge, this is the first case report of a Chilean patient with ligneous conjunctivitis.
Assuntos
Conjuntivite/genética , Conjuntivite/patologia , Mutação , Plasminogênio/deficiência , Plasminogênio/genética , Dermatopatias Genéticas/genética , Dermatopatias Genéticas/patologia , Criança , Humanos , Masculino , PrognósticoRESUMO
RESUMO A conjuntivite lenhosa é resultante de um raro distúrbio autossômico recessivo hereditário, a deficiência de plasminogênio. Esta apresenta sintomas crônicos, como lesões conjuntivais membranosas características, inicialmente finas e com a persistência da inflamação evoluem se tornando esbranquiçadas, espessas e enrijecidas, lacrimejamento, secreção mucosa e hiperemia ocular acompanhados de espessas pseudomembranas lenhosa (PL) que recobrem a parte interior da conjuntiva tarsal. A literatura apresenta alguns tratamentos, entretanto nenhum deles alcançou a cura da doença. A terapia nutricional abordada neste estudo trata-se da combinação de nutrientes dentro dos limites estabelecidos para ingestão diária, baseada na nutrição ortomolecular, visando ao aumento da taxa de plasminogênio funcional, e a consequente redução dos sintomas associados à sua deficiência. Notou-se o desaparecimento de sintomas associados e redução do crescimento da PL, e também um aumento de 25% do plasminogênio funcional. Um aumento de 25% na dosagem de plasminogênio pode não ser altamente significativo, mas abre um respaldo para maiores estudos, pois já apresentou minimização dos sintomas da paciente.
ABSTRACT Ligneous conjunctivitis is the result of a rare inherited autosomal recessive disorder, the plasminogen deficiency. This presents chronic symptoms such as growth spongiosa meat, tearing, mucous discharge and ocular reddening accompanied by ligenous pseudomembranes (PL) coat the inside of the tarsal conjunctiva. The literature presents some treatments, but none of them reached a cure. The nutritional therapy addressed in this study is a combination of nutrients within the limits of daily intake, based on orthomolecular nutrition, aimed at increasing functional plasminogen rate, and the consequent reduction of symptoms associated with their disability. It was noted disappearance of the symptoms associated and a 25% increase in the functional plasminogen. A 25% increase in plasminogen dosage may not be highly significant, but it opens up a support for further study, as already presented reduction of symptoms of the patient.
Assuntos
Humanos , Feminino , Adolescente , Conjuntivite/etiologia , Conjuntivite/terapia , Terapia Nutricional , Terapia Ortomolecular , Plasminogênio/deficiênciaRESUMO
A 6-month-old female infant presented to our clinic with bilateral eyelid swelling, yellowish-white membranes under both lids, and mucoid ocular discharge. Her aunt had similar ocular problems that were undiagnosed. The conjunctival membranes were excised and histopathological investigation of these membranes showed ligneous conjunctivitis. Further, laboratory examination revealed plasminogen deficiency. A good response was observed to topical fresh frozen plasma (FFP) treatment without systemic therapy, and the membranes did not recur during the treatment. Topical FFP treatment may facilitate rapid rehabilitation and prevent recurrence in patients with ligneous conjunctivitis.
Assuntos
Administração Oftálmica , Conjuntivite/terapia , Soluções Oftálmicas/administração & dosagem , Plasma , Plasminogênio/deficiência , Dermatopatias Genéticas/terapia , Conjuntivite/patologia , Feminino , Humanos , Lactente , Dermatopatias Genéticas/patologia , Resultado do TratamentoRESUMO
ABSTRACTA 6-month-old female infant presented to our clinic with bilateral eyelid swelling, yellowish-white membranes under both lids, and mucoid ocular discharge. Her aunt had similar ocular problems that were undiagnosed. The conjunctival membranes were excised and histopathological investigation of these membranes showed ligneous conjunctivitis. Further, laboratory examination revealed plasminogen deficiency. A good response was observed to topical fresh frozen plasma (FFP) treatment without systemic therapy, and the membranes did not recur during the treatment. Topical FFP treatment may facilitate rapid rehabilitation and prevent recurrence in patients with ligneous conjunctivitis.
RESUMOUma criança feminina com seis meses de idade se apresentou à nossa clínica com edema palpebral bilateral, membranas brancas amareladas sob as pálpebras de ambos os olhos e descarga mucosa. Sua tia já havia apresentado problemas oculares semelhantes que não foram diagnosticados. As membranas conjuntivais foram excisadas e a investigação histopatológica das membranas demonstraram conjuntivite lenhosa. O diagnóstico de deficiência de plasminogênio foi obtido a partir de um exame laboratorial. Tratamento tópico com plasma fresco congelado (FFP) sem qualquer terapia sistêmica mostrou boa resposta. Não foram observadas recorrências das membranas. O tratamento tópico com FFP pode ajudar a reabilitação rápida e prevenir a recorrência em pacientes com conjuntivite lenhosa.
Assuntos
Feminino , Humanos , Lactente , Administração Oftálmica , Conjuntivite/terapia , Soluções Oftálmicas/administração & dosagem , Plasma , Plasminogênio/deficiência , Dermatopatias Genéticas/terapia , Conjuntivite/patologia , Dermatopatias Genéticas/patologia , Resultado do TratamentoRESUMO
BACKGROUND: To identify inherited factors: Protein C (PC), protein S (PS), antithrombin (AT), plasminogen (Plg), the activated PC resistance (APCR), prothrombin (PT) mutation G20210 A (PTG20210 A) and methylenetetrahydrofolate reductase C677 T polymorphism (MTHFR C677 T), as well as acquired-risk factors such as: diabetes mellitus, surgeries, smoking, obesity, hypertension, trauma, alcoholism, family history; and their association, in Mexican patients with diagnostic of thrombophilia. METHODS: Overall, 200 patients diagnosed with thrombophilia and 100 healthy controls. Commercial kits were used for the coagulometric tests and polymerase chain reaction, restriction fragment length polymorphism for molecular alterations. RESULTS: Alterations were found with an estimated prevalence to PC 0.65%, AT 2.04% and Plg 2.5%, APCR 2%, PT 20210 2%, and MTHFR 65%. The C677 T polymorphism of the MTHFR did not associate with acquired-risk factors so we can suppose that it is an independent risk factor. For the patients that only presented acquired-risk factors (21 of 200), the association smoking-alcoholism showed to be the cause of thrombosis with high risk. The following were also associated: smoking with AT, PC, and alcoholism; obesity with Plg; smoking with alcoholism, and PS deficiency. CONCLUSIONS: Risk factors for both primary and secondary and their association were present as a cause of thrombosis in the patients studied, and the possibility to suffer a recurrent thrombosis.
Assuntos
Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Mutação/genética , Plasminogênio/deficiência , Protrombina/genética , Trombofilia/etiologia , Trombose/etiologia , Adolescente , Adulto , Estudos de Casos e Controles , Feminino , Humanos , Masculino , México , Fenótipo , Fatores de Risco , Trombofilia/diagnóstico , Adulto JovemAssuntos
Sequência de Bases/genética , Conjuntivite/genética , Mutação , Plasminogênio/genética , Deleção de Sequência , Pré-Escolar , Cromossomos Humanos Par 6/genética , Consanguinidade , Análise Mutacional de DNA , Éxons/genética , Feminino , Humanos , México , Plasminogênio/deficiência , Reação em Cadeia da PolimeraseRESUMO
BACKGROUND: Generalized membranous gingival enlargement due to an accumulation of fibrin deposits associated with severe alveolar bone loss (ligneous periodontitis) is a rare condition, and plasminogen deficiency seems to play a central role in its pathogenesis. However, this condition has not been described in association with syndromes. This article reports a case of ligneous periodontitis in a boy with the classic type of Ehlers-Danlos syndrome (EDS). METHODS: A 12-year-old white male presented with generalized gingival overgrowth and severe alveolar bone loss. A physical examination revealed clinical signs of EDS (velvety skin with mild hyperextensibility, marked hypermobility of the limb joints, atrophic scars on his knees, and easy bruising), which is associated with a positive family history for joint hypermobility. A biopsy of gingival tissues was submitted for routine histology, hematoxylin and eosin (H&E), and direct immunofluorescence (antifibrinogen). An evaluation of plasminogen activity was also performed. RESULTS: Histopathology revealed chronic periodontitis with fibrinoid material deposition, and direct immunofluorescence proved to be positive for fibrin. Functional plasminogen was reduced. A conclusive diagnosis of ligneous periodontitis due to plasminogen deficiency associated with the classic type of EDS was rendered. CONCLUSIONS: Ehlers-Danlos syndrome can be associated with ligneous periodontitis. In the present case, the histologic examination represented an important tool in the differential diagnosis, because it ruled out EDS type VIII as the associated systemic factor to periodontal breakdown.