Marfan syndrome (MFS) is an autosomal dominant disorder caused by a fibrillin-1 gene mutation (FBN1) [1]. Atypical MFS is caused by inactivating mutations in transforming growth factor β receptor (TGFβR) [2]. About 30% of cases of MFS do not have a family history. These sporadic cases occur due to de novo gene mutations [3]. The defective fibrillin protein in the connective tissue causes ocular, cardiovascular, musculoskeletal, skin, lung, and nervous system manifestations, which evolves gradually as the age advances. Ocular Manifestations of MFS include subluxation of the lens, flat cornea, glaucoma, cataract, retinal detachment, and amblyopia [4]. We report a case of a 16-year-old female, who presented with progressive diminution of vision in both the eyes for the past 5 years. On ocular examination, her right eye visual acuity was 5/60 and left eye visual acuity was 6/60, with a clear cornea. Dilated examination revealed a superotemporal subluxation of the lens with intact zonules in both the eyes and normal fundus (Figure-1).
Introduction: Oral cancers account for 3% of total malignancies. A research was conducted to findthe incidence, age, and sex distribution, clinical presentation, and the relationship between habitsand various premalignant lesions of the oral cavity. Methods: It was a hospital-based observationaland cross-sectional study, conducted in GSL Medical College, Rajamahendravaram from October2015 to April 2017. Individuals aged > 18 years, with leukoplakia, erythroplakia, blanched mucosawith or without fibrous bands and /or trismus suggestive of oral submucous fibrosis, bilateral whitishlesions with a reticular pattern suggestive of lichen planus, and ulcer against sharp tooth denturesuggestive of traumatic dental ulcers were taken. Individuals with frank oral malignancy, those withterminal diseases, those who did not submit informed consent were not considered. Results: Themajority of patients (33.33%) were aged between 51 – 60 years, belong (62.75%) to lowersocioeconomic status. Leukoplakia (64.7%) was a common clinical presentation. Most (49.02%) ofthe study patients presented with a burning sensation. When addictions were considered, 86.27% ofpatients were smokers, 23.53% were addicted to alcohol. Conclusion: Leukoplakia was thecommonest (64.71%) premalignant lesion, 51 – 60 years was the common age group. Premalignantlesions were most commonly seen among males, most of the study participants belong to low andmiddle socio-economic groups with a rural background. Diabetes mellitus was the most commoncomorbidity associated with premalignant lesions.
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