title: Retinal changes and tumorigenesis in Ramon syndrome: follow-up of a Brazilian family.
abstract: We report on the clinical evolution of the Brazilian family with Ramon syndrome described by de Pina-Neto et al. [1986, Am J Med Genet 25:441-443]. Three members (patients IV-2, IV-18, and IV-19) have developed pigmentary changes in the retina and paleness of the optic disk. Patient IV-18 also has developed giant hypertrophy of the labia minora that, when examined histopathologically, was found to be due to neoplastic fibroblast and epithelial proliferation caused by a fibromatous process similar to that reported in the gingivae of the patients with this syndrome. Audiologic function of patient IV-2 was normal, and no skin lesions were detected. The articular signs and symptoms show that the affected relatives developed rheumatoid arthritis, which is currently inactive in patient IV-18, whereas patient IV-2 did not develop these alterations.
authors.affiliation: Department of Genetics, Faculty of Medicine of Ribeirão Preto, University of São Paulo, Brazil. jmdpneto@fmrp.usp.br
authors.forename: J M
authors.initials: JM
authors.lastname: de Pina-Neto
authors.forename: N V
authors.initials: NV
authors.lastname: de Souza
authors.forename: M A
authors.initials: MA
authors.lastname: Velludo
authors.forename: G B
authors.initials: GB
authors.lastname: Perosa
authors.forename: M M
authors.initials: MM
authors.lastname: de Freitas
authors.forename: J F
authors.initials: JF
authors.lastname: Colafêmina
mesh_terms: D000293:Adolescent; D000328:Adult; D001171:Arthritis, Juvenile / Q000235:genetics; D001938:Brazil; D002294:Carcinoma, Squamous Cell / Q000235:genetics / Q000473:pathology; D002636:Cherubism / Q000235:genetics; D004827:Epilepsy / Q000235:genetics; D005260:Female; D005350:Fibroma / Q000235:genetics* / Q000473:pathology; D005500:Follow-Up Studies; D005886:Gingival Hypertrophy / Q000235:genetics; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D006983:Hypertrichosis / Q000235:genetics; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D012164:Retinal Diseases / Q000235:genetics* / Q000473:pathology; D013577:Syndrome; D014846:Vulvar Neoplasms / Q000235:genetics* / Q000473:pathology