Context: Sebaceous cell carcinoma is a malignant neoplasm, rarely recognized in extra ocular sites. His prognosis depends of the precocity of the diagnosis. This neoplasm is aggressive in 29%; lymph node and visceral metastasis aren't rare.
Case Report: An 80-year-old male had an ulcerated and infected nodule located on the left thigh. The lesion appeared after five months ago. It suspected a squamous cell carcinoma. The histologic findings revealed an extra ocular sebaceous carcinoma. The patient died one month later due to heart insufficiency.
Conclusion: extra ocular sebaceous carcinoma is a rare neoplasm. It has more difficulties of diagnosis because it has diverse clinical presentations as well as a variety of histologic patterns. We will discuss the incidence, clinical, histological and the prognosis of this aggressive neoplasm.
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Background: Alport syndrome (AS) is a multifaceted condition that primarily affects the basement membranes of the kidneys, ears, and eyes. AS is considered the second most common cause of hereditary renal failure, exhibiting varied clinical manifestations across different lifespans. The aim of this study is to investigate the clinical features and genetic profile of AS and to elucidate the genotype-phenotype correlation of AS.
View Article and Find Full Text PDFICAM-1 K469E gene polymorphism, genotype-phenotype correlation, and retinopathy in Type 2 diabetes mellitus patients.
Ophthalmic Genet
January 2025
Department of Ophthalmology, PSG Institute of Medical Sciences and Research, Coimbatore, India.
Context: The role of genetic factors in the development of diabetic retinopathy is evident from the fact that only 50% of patients with the non-proliferative type of diabetic retinopathy progress to proliferative diabetic retinopathy. Though the K469E polymorphism of the ICAM-1 (Intercellular Adhesion Molecule-1) gene is known to increase the risk of developing Diabetic Retinopathy (DR) among Type 2 diabetic patients, its role in the development of severe DR has not been extensively studied.
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Syndromic Retinitis Pigmentosa.
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December 2024
Department of Ophthalmology, Leiden University Medical Center, Leiden, the Netherlands; Department of Ophthalmology, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
Retinitis pigmentosa (RP) is a progressive inherited retinal dystrophy, characterized by the degeneration of photoreceptors, presenting as a rod-cone dystrophy. Approximately 20-30% of patients with RP also exhibit extra-ocular manifestations in the context of a syndrome. This manuscript discusses the broad spectrum of syndromes associated with RP, pathogenic mechanisms, clinical manifestations, differential diagnoses, clinical management approaches, and future perspectives.
View Article and Find Full Text PDFSebaceous Carcinoma in the Right Inguinal Region with Multiple Metastases and a Poor Prognosis: A Case Report.
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Department of Oncology and Hematology, Dujiangyan People's Hospital, Chengdu, Sichuan, People's Republic of China.
Introduction: Sebaceous carcinoma (SC) is a rare malignancy and can be divided into two types, ocular and extra-ocular SC. Extra-ocular SC is typically associated with a better prognosis than ocular SC. However, extra-ocular SCs located in atypical areas, such as the inguinal region, along with multiple metastases, are uncommon and present significant challenges, often leading to poorer outcomes.
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Clin Exp Rheumatol
December 2024
Pathophysiology Department, Athens School of Medicine, National and Kapodistrian University of Athens; Research Institute for Systemic Autoimmune Diseases, Athens; and Laboratory of Immunobiology, Center for Clinical, Experimental Surgery and Translational Research, Biomedical Research Foundation of the Academy of Athens, Greece.
Objectives: To assess if isolated mouth or eye dryness constitutes distinct clinical phenotypes in Sjögren's disease (SjD).
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