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: J M de Pina-Neto, N V de Souza, M A Velludo, G B Perosa, M M de Freitas, J F Colafêmina
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 77 Issue 1 Pg. 43-6 (Apr 28 1998) ISSN: 0148-7299 [Print] United States
• PMID: 9557893 (Publication Type: Case Reports, Journal Article)

Topics

• Adolescent
• Adult
• Arthritis, Juvenile (genetics)
• Brazil
• Carcinoma, Squamous Cell (genetics, pathology)
• Cherubism (genetics)
• Epilepsy (genetics)
• Female
• Fibroma (genetics, pathology)
• Follow-Up Studies
• Gingival Hypertrophy (genetics)
• Growth Disorders (genetics)
• Humans
• Hypertrichosis (genetics)
• Intellectual Disability (genetics)
• Male
• Retinal Diseases (genetics, pathology)
• Syndrome
• Vulvar Neoplasms (genetics, pathology)