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OBJECTIVES: Hürthle cells are a common finding on thyroid fine-needle aspiration, but when they are the predominant cytology, they represent a difficult diagnostic challenge. The Thyroid Nodule App (TNAPP) is a new, publicly available web application utilizing ultrasound (US) features based on the updated 2016 American Association of Clinical Endocrinologists clinical practice guidelines for thyroid nodule management. This pilot study was performed to assess the TNAPP recommendations and surgical pathology outcomes of Hürthle cell-predominant thyroid nodules. METHODS: A retrospective review of nodules with Bethesda III (atypia of undetermined significance with Hürthle cells) or Bethesda IV (suspicious for Hürthle cell neoplasm) cytology, for which surgery was performed between 2017 and 2021, was conducted. TNAPP US categories 1, 2, and 3 (low, intermediate, and high risk, respectively) were assigned based on nodule characteristics, and clinical management recommendations were recorded. Results were compared with histology-proven diagnoses. RESULTS: Fifty-nine nodules in 57 patients where surgical pathology was available were analyzed with the TNAPP algorithm. Of the 59 nodules, 4 were US category 1 (low risk/suspicion), 40 were US category 2 (intermediate risk/suspicion), and 15 were US category 3 (high risk/suspicion). All US category 1 nodules were benign, while 30% of the US category 2 and 40% of the US category 3 nodules were malignant. Of the patients who had molecular marker testing with ThyroSeq, 22 out of 29 (76%) were positive, indicating either an intermediate or high risk of malignancy, 7 of which were malignant. CONCLUSION: This preliminary study suggests that TNAPP is a useful clinical tool for sonographic assessment of thyroid nodules with Hürthle cell cytology.
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Aplicativos Móveis , Neoplasias da Glândula Tireoide , Nódulo da Glândula Tireoide , Humanos , Células Oxífilas/patologia , Projetos Piloto , Estudos Retrospectivos , Neoplasias da Glândula Tireoide/diagnóstico por imagem , Neoplasias da Glândula Tireoide/patologia , Nódulo da Glândula Tireoide/diagnóstico por imagem , Nódulo da Glândula Tireoide/patologiaRESUMO
PURPOSE: To evaluate the use of swept-source optical coherence tomography angiography to detect distinct vascular features in small choroidal melanomas and choroidal nevi. METHODS: Patients with a choroidal nevus or a treatment-naïve choroidal melanoma were imaged with color fundus photography, ultrasound, and swept-source optical coherence tomography angiography (12 × 12 mm). High-risk features including overlying fluid, orange pigment, shaggy photoreceptors, acoustic hollowness, depth >2 mm, and basal diameter >5 mm were assessed. Optical coherence tomography angiography vascular markers included: choroidal vessel visualization, choroidal vessel depth, and choriocapillaris flow signal, assessed qualitatively by comparison with surrounding, unaffected choriocapillaris. RESULTS: Twenty-nine lesions were included in this study, seven flat choroidal nevi, 17 elevated choroidal nevi, and 5 choroidal melanomas. Distinct vascular patterns were noted between flat nevi, elevated nevi, and small choroidal melanomas. Choroidal melanomas displayed two types of vasculature: "nevus-like" vasculature with straight parallel vessels and complex vasculature with vascular loops and crosslinking. Visualized choroidal vessels were significantly deeper in melanomas (110 µm) than elevated (84 µm) or flat nevi (70 µm). In a size-matched subanalysis of 5 elevated choroidal nevi and 5 choroidal melanomas, choroidal melanomas had increased mean choroidal vessel depth (P = 0.015), deepest choroidal vessel visualized (P = 0.034), and presence of a deep choroidal vessel >155 µm (P = 0.048). CONCLUSION: Swept-source optical coherence tomography angiography may detect distinct vascular features in choroidal nevi and small choroidal melanomas.
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Neoplasias da Coroide/diagnóstico , Corioide/diagnóstico por imagem , Angiofluoresceinografia/métodos , Melanoma/diagnóstico , Nevo Pigmentado/diagnóstico , Tomografia de Coerência Óptica/métodos , Idoso , Corioide/irrigação sanguínea , Neoplasias da Coroide/irrigação sanguínea , Estudos Transversais , Feminino , Seguimentos , Fundo de Olho , Humanos , Masculino , Melanoma/irrigação sanguínea , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Estudos Retrospectivos , UltrassonografiaRESUMO
BACKGROUND: Absence of collagen VII causes blistering of the skin, eyes and many other tissues. This disease is termed dystrophic epidermolysis bullosa (DEB). Corneal fibrosis occurs in up to 41% and vision loss in up to 64% of patients. Standard treatments are supportive and there is no cure. The hypomorphic mouse model for DEB shows production of collagen VII at 10% of wild type levels in skin and spleen, but the eyes have not been described. Our purpose is to characterize the corneas to determine if this is an appropriate model for study of ocular therapeutics. METHODS: Western blot analysis (WB) and immunohistochemistry (IHC) were performed to assess presence and location of collagen VII protein within the hypomorphic mouse cornea. Additional IHC for inflammatory and fibrotic biomarkers transforming growth factor-beta-1 (TGF-ß1), alpha-smooth muscle actin (α-SMA), connective tissue growth factor (CTGF), proteinase 3, tenascin C and collagen III were performed. Clinical photographs documenting corneal opacification were assessed and scored independently by 2 examiners. Histology was then used to investigate morphologic changes. RESULTS: IHC and WB confirmed that hypomorphic mice produce less collagen VII production at the level of the basement membrane when compared with wild-types. IHC showed anomalous deposition of collagen III throughout the stroma. Of the 5 biomarkers tested, TGF-ß1 showed the strongest and most consistently staining. Photographs documented corneal opacities only in mice older than 10 weeks, opacities were not seen in younger animals. Histology showed multiple abnormalities, including epithelial hyperplasia, ulceration, fibrosis, edema, dysplasia, neovascularization and bullae formation. CONCLUSIONS: The collagen VII hypomorphic mouse shows reduced collagen VII production at the level of the corneal basement membrane. Corneal changes are similar to pathology seen in humans with this disease. The presence of anomalous stromal collagen III and TGF-ß1 appear to be the most consistent and strongest staining biomarkers in diseased mice. This mouse appears to mimic human corneal disease. It is an appropriate model for testing of therapeutics to treat EB ocular disease.
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Colágeno Tipo VII/deficiência , Doenças da Córnea/patologia , Substância Própria/metabolismo , Epidermólise Bolhosa Distrófica/patologia , Actinas/metabolismo , Animais , Western Blotting , Fator de Crescimento do Tecido Conjuntivo/metabolismo , Doenças da Córnea/metabolismo , Modelos Animais de Doenças , Epidermólise Bolhosa Distrófica/metabolismo , Imuno-Histoquímica , Camundongos , Fenótipo , Serina Endopeptidases/metabolismo , Tenascina/metabolismo , Fator de Crescimento Transformador beta1/metabolismoRESUMO
Lichen nitidus is a rare, idiopathic inflammatory condition that typically presents as small, flat-topped papules on the chest, abdomen, and upper extremities. The lesions are benign and often asymptomatic and self-resolve. The pediatric population is most often affected. The authors report a case of lichen nitidus presenting as isolated bilateral eyelid lesions increasing in number for several years. Eventual excision and antibiotic/steroid ointment prompted regression.
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Doenças Palpebrais/diagnóstico , Pálpebras/patologia , Líquen Nítido/diagnóstico , Biópsia , Criança , Diagnóstico Diferencial , Humanos , MasculinoRESUMO
Instrumental advances in infrared micro-spectroscopy have made possible the observation of individual human cells and even subcellular structures. The observed spectra represent a snapshot of the biochemical composition of a cell; this composition varies subtly but reproducibly with cellular effects such as progression through the cell cycle, cell maturation and differentiation, and disease. The aim of this summary is to provide a synopsis of the progress achieved in infrared spectral cytopathology (SCP) - the combination of infrared micro-spectroscopy and multivariate methods of analysis - for the detection of abnormalities in exfoliated human cells of the upper respiratory and digestive tract, namely the oral and nasopharyngeal cavities, and the esophagus.
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Neoplasias Esofágicas/patologia , Programas de Rastreamento/métodos , Neoplasias Bucais/patologia , Neoplasias Nasofaríngeas/patologia , Espectrofotometria Infravermelho/métodos , Células Epiteliais/patologia , Neoplasias Esofágicas/diagnóstico , Humanos , Neoplasias Bucais/diagnóstico , Neoplasias Nasofaríngeas/diagnósticoRESUMO
PURPOSE: To categorize vitrectomy cytologic diagnoses and ancillary tests to address appropriate processing of low-volume vitreous samples. DESIGN: Retrospective case series. PARTICIPANTS: Five thousand seven hundred thirty-six vitreous samples. METHODS: Cytologic diagnoses of therapeutic and diagnostic vitrectomy samples and their processing protocols from 3 teaching institutions were reviewed. MAIN OUTCOME MEASURES: Diagnostic results were categorized as negative for malignancy, suspicious for malignancy, and positive for malignancy. All ancillary studies performed were documented, including special stains, immunohistochemistry analysis, cytokine levels, and polymerase chain reaction (PCR) analysis. RESULTS: Of the 5736 vitreous samples analyzed, 4683 (81.64%) were from Tufts Medical Center (TMC), 955 (16.65%) were from Boston Medical Center (BMC), and 98 (1.70%) were from Massachusetts Eye Research and Surgery Institution (MERSI). Cases from TMC and BMC were therapeutic and diagnostic vitrectomies, and MERSI cases were diagnostic vitrectomies. Most vitrectomies showed negative results for malignancy: 99.47% of TMC cases, 99.89% of BMC cases, and 79.6% of MERSI cases. These included vitreous hemorrhage and inflammatory or infectious findings. Ancillary studies performed in this category included Periodic Acid-Schiff staining for fungi, PCR analysis for toxoplasmosis, cytomegalovirus, Epstein-Barr virus (EBV), herpes simplex virus I and II, and vitreous cultures for infections (coagulase-negative Staphylococcus, Candida, Fusarium, and Propionibacterium species). Interleukin (IL) 10-to-IL-6 ratios were performed on 38.7% of cases from MERSI. Fourteen cases from TMC were suspicious for malignancy based on cytologic evaluation. Eleven cases from TMC, 1 case from BMC, and 20 cases from MERSI showed positive results for malignancy and included B-cell lymphoma, retinoblastoma, melanoma, and metastatic adenocarcinoma. The ancillary testing included PCR for heavy chain immunoglobulin gene rearrangements, immunohistochemistry for EBV, in situ hybridization for κ and λ light chains, and cytogenetics. CONCLUSIONS: This is the largest data pool of reported cytologic diagnoses of diagnostic and therapeutic vitrectomy samples. Cytologic evaluation of therapeutic vitrectomy samples provides a valuable baseline of nonpathologic findings that assist in differentiation between malignancy, infections, and inflammatory conditions. Allocation of small-volume vitreous samples to select ancillary testing from the plethora of available diagnostic tests requires preoperative communication between surgeons and pathologists to ensure appropriate and timely treatment methods.
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Oftalmopatias/diagnóstico , Vitrectomia , Corpo Vítreo/patologia , Citocinas/metabolismo , Endoftalmite/diagnóstico , Endoftalmite/metabolismo , Oftalmopatias/metabolismo , Infecções Oculares/diagnóstico , Infecções Oculares/metabolismo , Humanos , Imuno-Histoquímica , Linfoma Intraocular/diagnóstico , Linfoma Intraocular/metabolismo , Reação em Cadeia da Polimerase , Estudos Retrospectivos , Uveíte/diagnóstico , Uveíte/metabolismo , Corpo Vítreo/metabolismoRESUMO
The cytomorphological features of normal ocular structures compared to those found in diagnostic samples from the anterior and posterior segments of the eye are discussed.
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Segmento Anterior do Olho/patologia , Citodiagnóstico , Oftalmopatias/patologia , Clínicos Gerais , Segmento Posterior do Olho/patologia , Biópsia , Oftalmopatias/cirurgia , Neoplasias Oculares/patologia , Humanos , Segmento Posterior do Olho/cirurgia , Valor Preditivo dos Testes , VitrectomiaRESUMO
Primary sarcomas of the trachea are rare occurrences that present with nonspecific symptoms, making timely diagnosis difficult. We report a case of primary fibrosarcoma of the trachea that presented with acute airway loss secondary to tracheal discontinuity due to tumor destruction. This unusual clinical presentation highlights the difficulties posed in the diagnosis and management of tracheal sarcomas. A discussion of the relevant literature is presented.
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Obstrução das Vias Respiratórias/etiologia , Fibrossarcoma/diagnóstico , Neoplasias da Traqueia/diagnóstico , Estenose Traqueal/diagnóstico , Idoso , Obstrução das Vias Respiratórias/diagnóstico , Biópsia por Agulha , Progressão da Doença , Evolução Fatal , Feminino , Fibrossarcoma/terapia , Humanos , Imuno-Histoquímica , Invasividade Neoplásica/patologia , Estadiamento de Neoplasias , Doenças Raras , Respiração Artificial/métodos , Tomografia Computadorizada por Raios X/métodos , Neoplasias da Traqueia/terapia , Estenose Traqueal/complicações , Estenose Traqueal/terapia , Traqueostomia/métodosRESUMO
OBJECTIVE: To analyze the morphologic features and vasculature of the choroid in healthy eyes using spectral-domain (SD) optical coherence tomography (OCT). DESIGN: Cross-sectional retrospective review. PARTICIPANTS: Forty-two healthy subjects (42 eyes) with no ocular disease who underwent high-definition scanning with Cirrus high-definition OCT (Carl Zeiss Meditec, Inc., Dublin, CA) at the New England Eye Center, Boston, Massachusetts, between November 2009 and September 2010. METHODS: The SD OCT images were evaluated for morphologic features of the choroid, including the shape of the choroid-scleral border, location of the thickest point of choroid, and regions of focal choroidal thinning. Total choroidal thickness and large choroidal vessel layer thickness were measured by 2 independent observers experienced in analyzing OCT images using the Cirrus linear measurement tool at the fovea, 750 µm nasal and temporal to the fovea. Custom software was used to calculate the ratio of choroidal stroma to the choroidal vessel lumen. MAIN OUTCOME MEASURES: Qualitative assessment of the choroidal morphologic features, quantitative analysis of choroidal vasculature, and use of novel automated software to determine the ratio of choroidal stromal area to the area of choroidal vessel lumen. RESULTS: The 42 subjects had a mean age of 51.6 years. All subjects (100%) had a so-called bowl or convex shape to the choroid-sclera junction, and the thickest point of the choroid was under the fovea in 88.0% of the subjects. The mean choroidal thickness was 256.8 ± 75.8 µm, mean thickness of the large choroidal vessel layer was 204.3 ± 65.9 µm, and that of the medium choroidal vessel layer-choriocapillaris layer was 52.9 ± 20.6 µm beneath the fovea. The ratio of large choroidal vessel layer thickness to the total choroidal thickness beneath the fovea was 0.7 ± 0.06. The software-generated ratio of choroidal stromal area to the choroidal vessel lumen area was 0.27 ± 0.08, suggesting that choroidal vessel lumen forms a greater proportion of the choroid than the choroidal stroma in healthy eyes. CONCLUSIONS: This is the first study to describe the morphologic features and vasculature of the choroid in healthy eyes from 1-line raster scans obtained using SD OCT. The method described holds promise and has immediate clinical usefulness in recognizing subtle changes in choroidal morphologic features and the role of choroidal angiopathy in various disease states that, in the future, may inform new treatment methods. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found after the references.
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Corioide/anatomia & histologia , Corioide/irrigação sanguínea , Tomografia de Coerência Óptica , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto JovemRESUMO
Castleman's disease (CD) is a rare, benign lymphoproliferative disorder. The association of human herpes virus 8 (HHV8) and human immunodeficiency virus infections with CD is well established however the role of Epstein-Barr Virus in CD is less well understood. We present a unique case of Castleman's disease in a patient with concomitant EBV infection, which mimicked the clinical presentation of nasopharyngeal carcinoma (NPC) versus lymphoma. After a delayed diagnosis, the patient underwent a left superficial parotidectomy and neck dissection and has had no recurrence of disease.
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Hiperplasia do Linfonodo Gigante/diagnóstico , Hiperplasia do Linfonodo Gigante/virologia , Infecções por Vírus Epstein-Barr/complicações , Idoso , Hiperplasia do Linfonodo Gigante/complicações , Hiperplasia do Linfonodo Gigante/fisiopatologia , Diagnóstico Tardio , Progressão da Doença , Humanos , Excisão de Linfonodo , Masculino , Glândula Parótida/cirurgiaRESUMO
OBJECTIVE: To describe a difficult case of a large extra-abdominal desmoid fibroma of the posterior neck and back; to discuss the pathologic findings and treatment options of this case and to review the current literature for a rare presentation of this disease. METHOD: A case report and review of the current relevant English literature, carried out using PubMed Medline, are presented. RESULTS: We present a challenging case in which a locally invasive desmoid of the posterior neck and back had grown to such an extent that complete surgical excision in one procedure was not possible. CONCLUSION: Extra-abdominal desmoid fibromas are rare tumors with multiple treatment options. The literature supports incomplete surgical resection when necessary to reduce postoperative morbidity. Further options described for residual or recurrent disease include repeat surgical excision, radiation therapy, and possible chemotherapy. For particularly large tumors, close observation and a planned second stage procedure are an appropriate choice.
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Fibromatose Agressiva/patologia , Neoplasias de Cabeça e Pescoço/patologia , Neoplasias Musculares/patologia , Adulto , Fibromatose Agressiva/cirurgia , Neoplasias de Cabeça e Pescoço/cirurgia , Humanos , Imageamento por Ressonância Magnética , Masculino , Neoplasias Musculares/cirurgia , Invasividade Neoplásica , Músculos Paraespinais/patologia , Músculos Paraespinais/cirurgiaRESUMO
PURPOSE: A method is introduced to examine the influence of implant duration T, radionuclide, and radiobiological parameters on the biologically effective dose (BED) throughout the entire volume of regions of interest for episcleral brachytherapy using available radionuclides. This method is employed to evaluate a particular eye plaque brachytherapy implant in a radiobiological context. METHODS: A reference eye geometry and 16 mm COMS eye plaque loaded with (103)Pd, (125)I, or (131)Cs sources were examined with dose distributions accounting for plaque heterogeneities. For a standardized 7 day implant, doses to 90% of the tumor volume ( (TUMOR)D(90)) and 10% of the organ at risk volumes ( (OAR)D(10)) were calculated. The BED equation from Dale and Jones and published α/ß and µ parameters were incorporated with dose volume histograms (DVHs) for various T values such as T = 7 days (i.e., (TUMOR) (7)BED(10) and (OAR) (7)BED(10)). By calculating BED throughout the volumes, biologically effective dose volume histograms (BEDVHs) were developed for tumor and OARs. Influence of T, radionuclide choice, and radiobiological parameters on (TUMOR)BEDVH and (OAR)BEDVH were examined. The nominal dose was scaled for shorter implants to achieve biological equivalence. RESULTS: (TUMOR)D(90) values were 102, 112, and 110 Gy for (103)Pd, (125)I, and (131)Cs, respectively. Corresponding (TUMOR) (7)BED(10) values were 124, 140, and 138 Gy, respectively. As T decreased from 7 to 0.01 days, the isobiologically effective prescription dose decreased by a factor of three. As expected, (TUMOR) (7)BEDVH did not significantly change as a function of radionuclide half-life but varied by 10% due to radionuclide dose distribution. Variations in reported radiobiological parameters caused (TUMOR) (7)BED(10) to deviate by up to 46%. Over the range of (OAR)α/ß values, (OAR) (7)BED(10) varied by up to 41%, 3.1%, and 1.4% for the lens, optic nerve, and lacrimal gland, respectively. CONCLUSIONS: BEDVH permits evaluation of the relative biological effectiveness for brachytherapy implants. For eye plaques, (TUMOR)BEDVH and (OAR)BEDVH were sensitive to implant duration, which may be manipulated to affect outcomes.
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Braquiterapia/instrumentação , Braquiterapia/métodos , Neoplasias Oculares/radioterapia , Modelos Biológicos , Próteses e Implantes , Radiometria/métodos , Planejamento da Radioterapia Assistida por Computador/métodos , Simulação por Computador , Interpretação Estatística de Dados , Humanos , Dosagem Radioterapêutica , Eficiência Biológica Relativa , SoftwareAssuntos
Neoplasias da Glândula Tireoide/diagnóstico por imagem , Nódulo da Glândula Tireoide/diagnóstico por imagem , Adulto , Biópsia por Agulha Fina , Reações Falso-Negativas , Feminino , Humanos , Achados Incidentais , Neoplasias da Glândula Tireoide/patologia , Neoplasias da Glândula Tireoide/cirurgia , Nódulo da Glândula Tireoide/patologia , Nódulo da Glândula Tireoide/cirurgia , Tireoidectomia , Tomografia Computadorizada por Raios XRESUMO
Rho guanine nucleotide exchange factor 10 (ARHGEF-10) is a RHO GTPase that has a role for neural morphogenesis, however its effect on the eyes remains unknown. Here, we report a 44-year-old man who presented with eyelid swelling along with a history of bilateral hand contractures, high-arched feet and muscle wasting, who was found to have an ARHGEF-10 mutation. Neuroimaging was significant for numerous nerve-based cystic abnormalities in the bilateral orbits and throughout the neuraxis, and an orbital biopsy revealed S-100 and SOX-10 positive lesion consistent with pseudocysts. While the role of ARHGEF-10 remains unclear, further research is warranted to further describe its clinical manifestations.
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Oftalmopatias/genética , Olho , Inflamação/genética , Órbita , Fatores de Troca de Nucleotídeo Guanina Rho/genética , Adulto , Humanos , Masculino , Mutação , Órbita/patologia , SíndromeAssuntos
Neoplasias da Túnica Conjuntiva/patologia , Cistos/patologia , Nevo Pigmentado/patologia , Criança , Neoplasias da Túnica Conjuntiva/diagnóstico por imagem , Neoplasias da Túnica Conjuntiva/cirurgia , Cistos/diagnóstico por imagem , Cistos/cirurgia , Feminino , Humanos , Nevo Pigmentado/diagnóstico por imagem , Nevo Pigmentado/cirurgia , Procedimentos Cirúrgicos Oftalmológicos , Tomografia de Coerência ÓpticaRESUMO
A 62-year-old woman with a history of localized nasopharyngeal amyloidosis presented with bilateral complete nasolacrimal duct obstruction and 2 previous episodes of right dacryocystitis. Workup for systemic involvement was negative. Pathology was confirmed at the time of previous endonasal sinus surgery, showing submucosal amorphous deposition of Congo Red-positive material with apple-green birefringence. Computed tomography revealed extensive submucosal calcifications in the head and neck region, including bilateral nasolacrimal ducts. Localized amyloidosis is rare and most commonly involves the head and neck region. There is a previously reported case of nasolacrimal obstruction secondary to amyloidosis focal only to the nasolacrimal system, but we believe this to be the first report of localized nasopharyngeal amyloidosis to involve the nasolacrimal system.
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Amiloidose/complicações , Obstrução dos Ductos Lacrimais/etiologia , Ducto Nasolacrimal/patologia , Doenças Nasofaríngeas/complicações , Amiloidose/diagnóstico por imagem , Feminino , Humanos , Pessoa de Meia-Idade , Doenças Nasofaríngeas/diagnóstico por imagem , Tomografia Computadorizada por Raios XRESUMO
Ocular cytology specimens are small, with limited options for a repeat biopsy. Appropriate handling of these specimens and triaging for ancillary testing can be taxing. In this article, the author reviews a selection of potentially challenging diagnoses and current common practices and methods used in diagnosing ocular diseases by cytology. The majority of cytology specimens submitted for evaluation of ocular diseases can be divided into 3 major categories: surface epithelial corneal and conjunctival cytology samples, intraocular fluids from the anterior (aqueous fluid) or posterior (vitreous fluid) chambers of the eye, and intraocular fine-needle aspiration specimens. The clinical findings, testing, and cytologic features of ocular surface epithelial infections, inflammations and neoplasia are discussed; and challenges in processing and diagnosing intraocular infections, chronic uveitis, and vitreoretinal lymphoma are reviewed. Novel molecular testing in the cytologic diagnosis and classification of uveal melanoma also is explored. Cytology evaluation of corneal epithelial and stromal cells, anterior chamber and vitreous samples, and fine-needle aspiration biopsies can provide detailed diagnostic findings to aid in the treatment and follow-up of patients with ocular diseases.
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Citodiagnóstico/métodos , Técnicas Citológicas/métodos , Oftalmopatias/diagnóstico , Animais , HumanosRESUMO
PURPOSE: To present a case of adult onset asthma with periocular xanthogranuloma (AAPOX), and discuss existing literature on adult orbital xanthogranulomatous diseases (AOXGDs) and their treatment. OBSERVATIONS: A 63 year old male presented with progressive bilateral eyelid swelling with overlying yellow plaques associated with asthma. CT scan showed periorbital swelling with enlargement of the superior and lateral rectus muscles bilaterally. Biopsy demonstrated orbital xanthogranulomatous disease with increased IgG4 plasma cells. The patient was treated with intralesional triamcinolone, oral prednisone, and cyclophosphamide without significant improvement. Surgical debulking was eventually performed which improved his external symptoms until he was lost to follow up 15 months later. CONCLUSIONS AND IMPORTANCE: AOXGDs are a group of rare infiltrative diseases of the eyelids and orbit that can be associated with significant systemic morbidities. While they all have similar underlying histopathologic features, appreciating the clinical difference between these diseases is important in understanding patient prognosis and ensuring appropriate clinical monitoring. There is also growing research demonstrating that AAPOX, along with other AOXGDs, may represent part of a continuum of IgG4 related disease, similar to what is seen in this case. There is currently no reliably effective treatment for AOXGDs, and additional research into the management of these diseases is necessary.
RESUMO
We report a case of a newborn with unilateral retinal detachment that could not be repaired. At examination under anesthesia, the retina was markedly abnormal and a presumptive diagnosis of retinal dysplasia was made. Several years later, the eye was enucleated because it was blind and painful. Final pathology was consistent with familial exudative vitreoretinopathy (FEVR). The literature describing unilateral retinal dysplasia is sparse. This case adds to the clinical spectrum of pathologic findings in FEVR.