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Familial Multifocal Fibrosclerosis
Findings Suggesting that Retroperitoneal Fibrosis, Mediastinal Fibrosis, Sclerosing Cholangitis, Riedel's Thyroiditis, and Pseudotumor of the Orbit May Be Different Manifestations of a Single Disease
- DAVID E. COMINGS, M.D.;
- K. B. SKUBI, M.D., F.A.C.P.;
- J. VAN EYES, PH.D., M.D.; and
- ARNO G. MOTULSKY, M.D., F.A.C.P.
- Requests for reprints should be addressed to David E. Comings, M.D., Department of Medical Genetics, City of Hope Medical Center, Duarte, Calif.
Excerpt
Sclerosing Overgrowths of fibrous tissue have long been known to affect a number of widely separate organ systems. The terms retroperitoneal fibrosis, mediastinal fibrosis, sclerosing cholangitis, Riedel's sclerosing thyroiditis, and pseudotumor of the orbit reflect the multiple areas involved. Despite the tendency to treat these entities as independent diseases, an increasing number of patients has been reported with fibrotic involvement of more than one of the above areas. With the exception of the recent evidence that methysergide (Sansert®) may produce retroperitoneal fibrosis, the cause of these diverse disorders has remained unknown. The present report concerns two brothers, offspring of a
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Fibrosis mediastinal, fibrosis retroperitonee, cholangiitis sclerotisante, thyroiditis de Riedel, e pseudotumor del orbita es omnes characterisate per un excessive crescentia sclerotisante de tissu fibrose. Le presente reporto describe duo fratres, exite ab un maritage consanguinee, qui habeva disveloppate differente combinationes de omne le mentionate morbos. Le un, un masculo de 37 annos de etate con un historia clinic de 15 annos de recurrente episcleritis, disveloppava proptosis del oculo dextere con persistente tumescentia del gamba dextere e—un anno plus tarde—dolores infero-abdominal, polydipsia, e polyuria. Un pyelogramma intravenose monstrava que le ren sinistre esseva nonfunctional e que le ren dextere esseva afficite de hydronephrosis. Laparatomia revelava extense fibrosis retriperitonee. Sex menses de therapia steroide resultava in un marcate melioration del symptomas. Un anno plus tarde, un repetition del intervention chirurgic pro dolores in le quadrante dextero-superior demonstrava un obstruction fibrosclerotic del ducto cystic. Le fratre de iste subjecto, qui habeva 39 annos de etate, habeva disveloppate progressive dyspnea al etate de 18 annos. Al etate de 25 annos, un thoracotomia exploratori habeva demonstrate extense grados de fibrosis mediastinal. Le symptomas esseva alleviate subsequentemente per therapia a steroides. Al etate de 33 annos, le patiente disveloppava le tableau typic de pseudotumor del orbita, e un recente examine ha monstrate le aspectos classic de thyroiditis sclerotisante de Riedel, con contracturas flexional del digitos. Iste familia presenta evidentia que le mentionate entitates es possibilemente manifestationes del mesme geneticamente determinate processo morbide. Le termino "famial fibrosclerosis multifocal" es suggestionate pro designar iste gruppo de disordines.
Article and Author Information
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From the Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Wash.
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This study was supported in part by grant H 3091, National Institutes of Health, Bethesda, Md.
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- Received November 7, 1966.
- Accepted November 18, 1966.
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