Retinal changes and tumorigenesis in Ramon syndrome: Follow‐up of a Brazilian family
Identifieur interne : 00B397 ( Main/Exploration ); précédent : 00B396; suivant : 00B398Retinal changes and tumorigenesis in Ramon syndrome: Follow‐up of a Brazilian family
Auteurs : João M. De Pina-Neto [Brésil] ; Nivaldo Vieira De Souza [Brésil] ; Maria Angeles S. L. Velludo [Brésil] ; Gleice B. D. Perosa [Brésil] ; Maurício M. S. De Freitas [Brésil] ; José F. Colafêmina [Brésil]Source :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1998-04-28.
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. Am. J. Med. Genet. 77:43–46, 1998. © 1998 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/(SICI)1096-8628(19980428)77:1<43::AID-AJMG10>3.0.CO;2-O
Affiliations:
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De Pina-Neto</name><affiliation wicri:level="4"><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Genetics, Faculty of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto</wicri:regionArea><orgName type="university">Université de São Paulo</orgName><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region></placeName></affiliation><affiliation></affiliation></author><author><name sortKey="De Souza, Nivaldo Vieira" sort="De Souza, Nivaldo Vieira" uniqKey="De Souza N" first="Nivaldo Vieira" last="De Souza">Nivaldo Vieira De Souza</name><affiliation wicri:level="4"><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Ophtalmology, Faculty of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto</wicri:regionArea><orgName type="university">Université de São Paulo</orgName><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region></placeName></affiliation></author><author><name sortKey="Velludo, Maria Angeles S L" sort="Velludo, Maria Angeles S L" uniqKey="Velludo M" first="Maria Angeles S. L." last="Velludo">Maria Angeles S. L. Velludo</name><affiliation wicri:level="4"><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Pathology, Faculty of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto</wicri:regionArea><orgName type="university">Université de São Paulo</orgName><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region></placeName></affiliation></author><author><name sortKey="Perosa, Gleice B D" sort="Perosa, Gleice B D" uniqKey="Perosa G" first="Gleice B. D." last="Perosa">Gleice B. D. Perosa</name><affiliation wicri:level="4"><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Gynecology and Obstetrics, Faculty of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto</wicri:regionArea><orgName type="university">Université de São Paulo</orgName><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region></placeName></affiliation></author><author><name sortKey="De Freitas, Mauricio M S" sort="De Freitas, Mauricio M S" uniqKey="De Freitas M" first="Maurício M. S." last="De Freitas">Maurício M. S. De Freitas</name><affiliation wicri:level="4"><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Gynecology and Obstetrics, Faculty of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto</wicri:regionArea><orgName type="university">Université de São Paulo</orgName><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region></placeName></affiliation></author><author><name sortKey="Colafemina, Jose F" sort="Colafemina, Jose F" uniqKey="Colafemina J" first="José F." last="Colafêmina">José F. Colafêmina</name><affiliation wicri:level="4"><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Otorhinolaringology, Faculty of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto</wicri:regionArea><orgName type="university">Université de São Paulo</orgName><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">American Journal of Medical Genetics</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title><idno type="ISSN">0148-7299</idno><idno type="eISSN">1096-8628</idno><imprint><biblScope unit="vol">77</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="43">43</biblScope><biblScope unit="page" to="46">46</biblScope><biblScope unit="page-count">4</biblScope><publisher>John Wiley & Sons, Inc.</publisher><pubPlace>New York</pubPlace><date type="published" when="1998-04-28">1998-04-28</date></imprint><idno type="ISSN">0148-7299</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0148-7299</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="fr">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. J. Med. Genet. 77:43–46, 1998. © 1998 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>Brésil</li></country><region><li>État de São Paulo</li></region><settlement><li>São Paulo</li></settlement><orgName><li>Université de São Paulo</li></orgName></list><tree><country name="Brésil"><region name="État de São Paulo"><name sortKey="De Pina Eto, Joao M" sort="De Pina Eto, Joao M" uniqKey="De Pina Eto J" first="João M." last="De Pina-Neto">João M. De Pina-Neto</name></region><name sortKey="Colafemina, Jose F" sort="Colafemina, Jose F" uniqKey="Colafemina J" first="José F." last="Colafêmina">José F. Colafêmina</name><name sortKey="De Freitas, Mauricio M S" sort="De Freitas, Mauricio M S" uniqKey="De Freitas M" first="Maurício M. S." last="De Freitas">Maurício M. S. De Freitas</name><name sortKey="De Souza, Nivaldo Vieira" sort="De Souza, Nivaldo Vieira" uniqKey="De Souza N" first="Nivaldo Vieira" last="De Souza">Nivaldo Vieira De Souza</name><name sortKey="Perosa, Gleice B D" sort="Perosa, Gleice B D" uniqKey="Perosa G" first="Gleice B. D." last="Perosa">Gleice B. D. Perosa</name><name sortKey="Velludo, Maria Angeles S L" sort="Velludo, Maria Angeles S L" uniqKey="Velludo M" first="Maria Angeles S. L." last="Velludo">Maria Angeles S. L. Velludo</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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