Search results for "Rare diseases."

showing 2 items of 92 documents

Fluorescent in situ hybridization (FISH): A useful diagnostic tool for childhood conjunctival melanoma

2021

Introduction: Conjunctival melanoma is extremely rare in children and has low rates of resolution. Definitive histopathological diagnosis based exclusively on microscopic findings is sometimes difficult. Thus, early diagnosis and adequate treatment are essential to improve clinical outcomes. Clinical case: We present the first case in which the fluorescent in situ hybridization (FISH) diagnostic technique was applied to a 10-year-old boy initially suspected of having amelanotic nevi in his right eye. Based on the 65% of tumor cells with 11q13 (CCND1) copy number gain and 33% with 6p25 (RREB1) gain as measured by the FISH analysis, and on supporting histopathological findings, the diagnosis …

medicine.medical_specialtySkin NeoplasmsMitomycinmedicine.medical_treatmentConjunctival NeoplasmsCryotherapyIn situ hybridization03 medical and health sciencesRare Diseases0302 clinical medicinemedicineAdjuvant therapyHumansChildMelanomaIn Situ Hybridization Fluorescencebusiness.industryMitomycin CGeneral MedicineDermatologyOphthalmology030220 oncology & carcinogenesis030221 ophthalmology & optometryFish <Actinopterygii>Differential diagnosisbusinessConjunctival MelanomaPediatric populationEuropean Journal of Ophthalmology
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A Rare Case of Giant Basal Cell Carcinoma of the Abdominal Wall: Excision and Immediate Reconstruction with a Pedicled Deep Inferior Epigastric Arter…

2017

Patient: Female, 82 Final Diagnosis: Giant basal cell carcinoma Symptoms: Anemia Medication: — Clinical Procedure: — Specialty: Plastic Surgery Objective: Rare disease Background: Basal cell carcinoma (BCC) greater than 5 cm in diameter is called giant basal cell carcinoma (GBCC), or super giant basal cell carcinoma if it has a diameter larger than 20 cm. Giant BCC only accounts for 0.5% of BCCs and super giant BCC is exceedingly rare. On account of their rarity, there are no established guidelines for GBCC treatment. Case Report: We describe a peculiar case of an 82-year-old woman with a GBCC carcinoma of the lower abdominal wall. The tumor was surgically removed with ipsilateral inguinal …

medicine.medical_specialtySkin NeoplasmsPropeller FlapSettore MED/19 - Chirurgia Plastica030204 cardiovascular system & hematologyAbdominal wall03 medical and health sciencesRare Diseases0302 clinical medicineDIEP flapRare casemedicineCarcinomaHumansNeoplasm InvasivenessBasal cell carcinomagiant basal cell carcinomaAged 80 and overSystemic complicationbusiness.industryAbdominal WallDeep Inferior Epigastric ArteryArticlesGeneral Medicinemedicine.diseaseMultiple pathologiesSurgerymedicine.anatomical_structureCarcinoma Basal CellFemalebusinessPerforator FlapBasal Cell Carcinoma030217 neurology & neurosurgeryAmerican Journal of Case Reports
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