No abstract

A poliangeíte microscópica é uma vasculite necrotizante sistêmica que acomete arteríolas, capilares e vênulas, mas também pode atingir pequenas e médias artérias. É considerada uma doença rara, idiopática e autoimune. Diversas anormalidades oculares e sistêmicas estão associadas às oclusões arteriais retinianas. Dentre as doenças vasculares do colágeno, a literatura cita como possíveis causas de obstrução das artérias retinianas o lúpus eritematoso sistêmico, a poliarterite nodosa, a arterite de células gigantes, a granulomatose de Wegener e a granulomatose linfóide de Liebow. Até o presente momento, não se encontrou na literatura relatos da associação de casos de oclusão arterial retinana associados à PAM. Os autores relatam o caso de um paciente com poliangeíte microscópica que apresentou comprometimento renal importante e oclusão da artéria central da retina unilateral. Atenta-se para a inclusão de pesquisa da PAM, através do p-ANCA, na avaliação de possível origem sistêmica em pacientes acometidos por oclusão arterial retiniana. Descritores: Retina/patologia; Vasculite retiniana/diagnóstico; Vasculite associada a anticorpo anticitoplasma de neutrófilos/ complicações; Oclusão de artéria central da retina/etiologia; Emergência oftalmológica/terapia; Relatos de casos

No abstract

We report the ultrastructural findings in a case of a 72-year-old black woman with confluent yellowish papules in the cervical region. She had no comorbidities. Ophthalmological examination, electrocardiogram, and echocardiogram were normal. Hematoxylin-eosin staining of the affected skin showed strong alterations in the mid-dermis with irregular clumps of eosinophilic material and loss of the normal parallel arrangement of collagen bundles. Orcein staining revealed that the elastic fibers lost their normal linear configuration, showing clump fragmentation, sometimes forming square structures. Transmission electron microscopy showed aberrant elastic fibers with an irregular outline and heterogenic inner structures. We also observed small elastic fibers. Collagen fibers showed a normal structure with irregular distribution. Scanning electron microscopy revealed important disorganization of collagen fibers and small stone-like deposits measuring around 5 µm associated with bigger structures ranging from 10-16 µm. Higher magnification revealed that these small stone-like structures were sometimes polyhedral-shaped or squared.

The association of microphthalmia and linear skin defects was named microphthalmia with linear skin defects syndrome (MLS) or MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea), an X-chromosomal disorder manifesting mainly in females. We examined a female newborn with facial linear skin defects following the Blaschko lines. Computer tomography and ophthalmological examination confirmed bilateral microphthalmia. An interstitial microdeletion at Xp22.2, encompassing the entire HCCS gene, was identified. Dermatoscopic examination showed erythematous linear areas with telangectasias and absence of sebaceous glands, which appear as brilliant white dots. Vellus hairs were also absent in the red areas. Dermatoscopy could help to establish the diagnosis of MLS/MIDAS syndrome by confirming the aplastic nature of the lesions.