Retinal changes and tumorigenesis in Ramon syndrome: Follow-up of a Brazilian family

✍ Scribed by de Pina-Neto, Jo�o M.; de Souza, Nivaldo Vieira; Velludo, Maria Angeles S.L.; Perosa, Gleice B.D.; de Freitas, Maur�cio M.S.; Colaf�mina, Jos� F.

• Publisher: John Wiley and Sons
• Year: 1998
• Tongue: English
• Weight: 20 KB
• Volume: 77
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19980428)77:1<43::aid-ajmg10>3.0.co;2-o

✦ Synopsis

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. Am.