ABSTRACT
Resumo O pseudoxantoma elástico é uma doença generalizada do tecido conjuntivo envolvendo a pele, olhos e sistema cardiovascular desencadeando a fragmentação e calcificação das fibras elásticas. Geralmente ocorre após a puberdade, as manifestações características são manchas pequenas, circunscritas, amareladas, localizadas no pescoço, axila e pregas inguinais. Estrias angioides na retina, tendência à hemorragia e insuficiência arterial são as complicações mais comuns. Esta doença pode ser herdada como autossômica dominante ou recessiva. O tratamento das manifestações oculares convencional é através da fototerapia a laser impedindo a ocorrência de hemorragias locais. Entretanto, novas abordagens terapêuticas estão sendo desenvolvidas como a utilização em longo prazo de drogas antiangiogênicas, as quais atuam inibindo a neovascularização ocular. Apesar de não ter ainda efetivamente substituído o tratamento original, pesquisas recentes já evidenciam benefícios da nova técnica. O objetivo deste estudo é relatar sobre o caso de uma paciente de 37 anos, portadora do pseudoxantoma elástico, com estrias angioides e hemorragia ocular, e o tratamento eficaz com a terapia antiangiogênica no ambulatório de oftalmologia em Nova Iguaçu, Rio de Janeiro.
Abstract The pseudoxanthoma elasticum is a generalized disease of the connective tissue involving the skin, eyes and cardiovascular system triggering the fragmentation and calcification of elastic fibers. Usually occurs after puberty, the manifestations characteristics are small spots, circumscribed, yellowish, located on the neck, axilla and inguinal folds. Angioid streaks in the retina, tendency to hemorrhage and arterial insufficiency are the most common complications. This disease can be inherited as autosomal dominant or recessive. The treatment of ocular manifestations is through the conventional phototherapy laser preventing the occurrence of local hemorrhages. However, new therapeutic approaches are being developed as the long-term use of drugs antiangiogenic, which act by inhibiting the ocular neovascularization. Despite not having yet effectively replaced the original treatment, recent research already show benefits of new technique. The objective of this study is to report on a case of a patient of 37 years, the carrier of the Pseudoxanthoma Elasticum, with angioid streaks and ocular hemorrhage, and the effective treatment with antiangiogenic therapy at the clinic of Ophthalmology in Nova Iguaçu, Rio de Janeiro.
Subject(s)
Humans , Female , Adult , Pseudoxanthoma Elasticum/complications , Eye Hemorrhage/etiology , Angioid Streaks/etiology , Ophthalmoscopy , Tonometry, Ocular , Eye Hemorrhage/diagnosis , Eye Hemorrhage/drug therapy , Fluorescein Angiography , Visual Acuity , Angiogenesis Inhibitors/therapeutic use , Intravitreal Injections , Bevacizumab/therapeutic use , Ranibizumab/therapeutic use , Slit Lamp Microscopy , Angioid Streaks/diagnosis , Angioid Streaks/drug therapyABSTRACT
Angioid streaks are commonly related to Grönblad-Strandberg syndrome, that often shows dermatological characteristics, such as pseudoxanthoma elasticum. Choroidal neovascularization is uncommon, often occurring after ocular trauma. This is a case report of the successful use of intravitreal bevacizumab for the treatment of choroidal neovascularization secondary to Grönblad-Strandberg syndrome.
As estrias angióides estão comumente relacionadas à síndrome de Grönblad-Strandberg, que se caracteriza ainda pela presença de alterações dermatológicas caracterizadas pelo pseudoxantoma elástico. A presença de neovascularização coroidiana nesses pacientes é incomum, ocorrendo geralmente após trauma ocular. Relatamos um caso de tratamento bem sucedido de neovascularização coroidiana secundária à síndrome de Grönblad-Strandberg com bevacizumab.
Subject(s)
Adult , Humans , Male , Angiogenesis Inhibitors/therapeutic use , Antibodies, Monoclonal/therapeutic use , Choroidal Neovascularization/drug therapy , Pseudoxanthoma Elasticum/complications , Choroidal Neovascularization/diagnosis , Choroidal Neovascularization/etiologyABSTRACT
Gronblad-Strandberg syndrome is a rare congenital hereditary dysplasic disorder of the connective tissue, characterized by a progressive abnormal mineralization and dystrophic calcification of elastic tissue and collagen. The term Gronblad-Strandberg syndrome is used when angioid streaks in eye occur in association with pseudoxanthoma elasticum [PXE] of skin. We report a young patient having characteristic skin and eye manifestations of the syndrome. He was evaluated thoroughly regarding extent and potential systemic complications of the disease and was counseled accordingly. Since dermatologists are generally not familiar with historical background and ocular findings of the disease, a brief review of these two aspects is also made
Subject(s)
Humans , Male , Pseudoxanthoma Elasticum/complications , Angioid Streaks , Fluorescein Angiography , Pseudoxanthoma Elasticum/pathologyABSTRACT
A 65-year-old male presented with right hemiparesis and skin lesions. On examination, the patient had multiple, discrete, skin-colored papules on the neck and upper chest with wrinkling of the skin. The lateral part of the trunk and medial aspect of both upper arms showed atrophic plaques. A computerized tomography scan of the head showed dilatation of the basilar artery with a frontoparietal infarct. Funduscopic examination showed characteristic angioid streaks. Skin biopsy of the papule and atrophic plaques showed epidermal atrophy, calcium deposits in the mid-dermis and basophilic clumped and fragmented elastic fibers in the mid- and lower dermis, all findings consistent with pseudoxanthoma elasticum. We are reporting here a case of pseudoxanthoma elasticum with cerebrovascular accident.
Subject(s)
Aged , Humans , Male , Pseudoxanthoma Elasticum/complications , Stroke/diagnosisSubject(s)
Child , Gastrointestinal Hemorrhage/etiology , Humans , Male , Pseudoxanthoma Elasticum/complications , RecurrenceABSTRACT
O pseudoxantoma elástico é uma desordem progressiva das fibras elásticas com alteraçöes dermatológicas, oftalmológicas e cardiovasculares. Os autores descrevem cinco novos casos e abordam aspectos clínicos e laboratoriais da moléstia
Subject(s)
Adult , Middle Aged , Humans , Male , Female , Cardiovascular Diseases/etiology , Eye Diseases/etiology , Pseudoxanthoma Elasticum/diagnosis , Skin Diseases/etiology , Pseudoxanthoma Elasticum/complications , Pseudoxanthoma Elasticum/genetics , Pseudoxanthoma Elasticum/pathologySubject(s)
Colitis, Ulcerative/diagnosis , Gastrointestinal Hemorrhage/diagnosis , Neurofibromatoses/diagnosis , Polyarteritis Nodosa/diagnosis , Pseudoxanthoma Elasticum/diagnosis , Gardner Syndrome/diagnosis , Hamartoma Syndrome, Multiple/diagnosis , Peutz-Jeghers Syndrome/diagnosis , Telangiectasia, Hereditary Hemorrhagic/diagnosis , Gastrointestinal Hemorrhage/complications , Gastrointestinal Hemorrhage/etiology , Polyarteritis Nodosa/complications , Pseudoxanthoma Elasticum/complications , Sarcoma, Kaposi/complications , Gardner Syndrome/complications , Hamartoma Syndrome, Multiple/complications , Peutz-Jeghers Syndrome/diagnosis , Telangiectasia, Hereditary Hemorrhagic/complicationsABSTRACT
Os autores faxem uma breve revisäo bibliográfica do Pseudoxantoma elástico (PXE) e seus mais variados aspectos. A seguir apresentam um caso clínico por eles observado
Subject(s)
Adult , Humans , Female , Pseudoxanthoma Elasticum/complications , Angioid Streaks/complications , Brazil , Gastrointestinal Hemorrhage/complications , Pseudoxanthoma Elasticum/diagnosisABSTRACT
A rare case of Groenblad Strandberg syndrome in which angioid streaks are associated with pseudoxanthoma elasticum is being reported. The pathology, clinical features, complications and treatment of angioid streaks are discussed in detail.
Subject(s)
Adult , Angioid Streaks/complications , Female , Fluorescein Angiography , Fundus Oculi , Humans , Pseudoxanthoma Elasticum/complications , SyndromeABSTRACT
Os autores apresentam um caso de pseudoxantoma elástico com hemorragia digestiva alta de difícil controle que necessitou de tratamento cirúrgico. Foi feita uma breve revisäo sobre as características do pseudoxantoma elástico e suas manifestaçöes clínicas, sendo uma causa rara de hemorragia digestiva alta