Congenital Cystic Disease of the Lung With Progressive Pulmonary Fibrosis and Carcinomatosis

Article1 April 1958CONGENITAL CYSTIC DISEASE OF THE LUNG WITH PROGRESSIVE PULMONARY FIBROSIS AND CARCINOMATOSISVICTOR A. MCKUSICK, A. MURRAY FISHERVICTOR A. MCKUSICKSearch for more papers by this author, A. MURRAY FISHERSearch for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-48-4-774 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptThe subject of this communication is a condition which probably can most appropriately be termed hereditary miliary broncho-alveolar cystic disease. However, because of the cumbersome nature of this designation, the well established terminology congenital cystic disease of the lung has been retained.The purposes of this communication are four: (1) to present evidence supporting the hereditary nature of the disorder; (2) to indicate that clubbed fingers on the basis of this disorder can exist for most of the patient's lifetime—for decades before any clinical evidences of pulmonary disease are detectable; (3) to demonstrate that the clinical picture may be that...Bibliography1. AustrianMcClementRenzettiDonaldRileyCournand RJHADKWRLA: Clinical and physiologic features of some types of pulmonary diseases with impairment of alveolar-capillary diffusion, Am. J. Med. 11: 667, 1951. CrossrefMedlineGoogle Scholar2. BargenSauerSloanGage JAWGWPRP: Development of cancer in chronic ulcerative colitis, Gastroenterology 26: 32, 1954. CrossrefMedlineGoogle Scholar3. BergZachrisson GCG: Cystic lung of rare origin—tuberous sclerosis, Acta radiol. 22: 425, 1941. CrossrefGoogle Scholar4. Black W: Neoplastic disease occurring in varicose ulcers or eczema. Report of 6 cases, Brit. J. Cancer 6: 120, 1952. CrossrefMedlineGoogle Scholar5. Bruce T: Über das klinische Bild verschiedener Typen von kongenitalen Zystenlungen bei Erwachsenen, Acta med. Scandinav. 102: 295, 1939. CrossrefGoogle Scholar6. Caffey J: Pediatric x-ray diagnosis, 2nd Ed., 1950, Year Book Publishers, Chicago, p. 216. Google Scholar7. CuretonHill RJIM: Malignant change in bronchiectasis, Thorax 10: 131, 1955. CrossrefMedlineGoogle Scholar8. Davis E: Hereditary clubbing of digits in two families, Brit. M. J. 1: 128, 1946. CrossrefGoogle Scholar9. HammanRich LAR: Acute diffuse interstitial fibrosis of the lungs, Bull. Johns Hopkins Hosp. 74: 177, 1944. Google Scholar10. Koontz AR: Congenital cysts of the lung, Bull. Johns Hopkins Hosp. 37: 340, 1925. Google Scholar11. LeviLewison JEEF: Malignant melanoma in a patient with ovarian agenesis. Case report of prolonged survival, J. Clin. Endocrinol. and Metabolism 12: 901, 1952. CrossrefGoogle Scholar12. MacDonaldShanks AMRA: Honeycomb lung and xanthomatosis, Arch. Dis. Childhood 29: 127, 1954. CrossrefMedlineGoogle Scholar13. MacMillan JM: Familial pulmonary fibrosis, Dis. of Chest 20: 426, 1951. CrossrefMedlineGoogle Scholar14. MacRae DF: Congenital cystic disease of the lung. A familial incidence of four males in one family, Canad. M. A. J. 57: 545, 1947. MedlineGoogle Scholar15. MannixHaight EPC: Anomalous pulmonary arteries and cystic disease of the lung, Medicine 34: 193, 1955. CrossrefMedlineGoogle Scholar16. MathewsVinson ECPP: Carcinoma of esophagus complicating cardiospasm, Gastroenterology 15: 747, 1950. CrossrefMedlineGoogle Scholar17. McKusick VA: Heritable disorders of connective tissue, 1956, The C. V. Mosby Co., St. Louis, p. 65. Google Scholar18. McLetchieReynolds NGDP: Histiocytic reticulosis and honeycomb lungs, Canad. M. A. J. 71: 44, 1954. MedlineGoogle Scholar19. NorrisTyson RFRM: Pathogenesis of congenital polycystic lung and its correlation with polycystic disease of other epithelial organs; reconstruction of cystic elements in 2 cases, Am. J. Path. 23: 1075, 1947. MedlineGoogle Scholar20. OechsliMiles WRSH: Simultaneous bilateral spontaneous pneumothorax. A review of the literature and report of a recurrent case due to congenital cysts of the lung, Am. Rev. Tuberc. 30: 239, 1934. Google Scholar21. PeabodyBuechnerAnderson JWHAAE: Hamman-Rich syndrome: analysis of current concepts and report of three precipitous deaths following cortisone and corticotropin withdrawal, Arch. Int. Med. 92: 806, 1953. CrossrefGoogle Scholar22. PeabodyPeabodyHayes JWJWEW: Idiopathic pulmonary fibrosis: its occurrence in identical twin sisters, Dis. of Chest 18: 330, 1950. CrossrefMedlineGoogle Scholar23. Sandoz E: Ueber zwei Fälle von Bronchiektasie, Beitr. z. path. Anat. u. z. allg. Path. 41: 495, 1907. Google Scholar24. Schenck SG: Diagnosis of congenital cystic disease of the lung, Arch. Int. Med. 60: 1, 1937. CrossrefGoogle Scholar25. SempleMcCluskie TRA: Generalized hypertrophic osteoarthropathy in association with bronchial carcinoma. A review based on 24 cases, Brit. M. J. 1: 754, 1955. CrossrefMedlineGoogle Scholar26. ShafranKavee MEJ: The diagnosis of bronchogenic carcinoma in patients with pulmonary tuberculosis, Arch. Int. Med. 96: 157, 1955. CrossrefGoogle Scholar27. TalbottMontgomery JHWR: Familial clubbing of fingers and toes, Arch. Int. Med. 92: 697, 1953. CrossrefGoogle Scholar28. TrevesPack NGT: The development of cancer in burn scars. An analysis and report of thirty-four cases, Surg., Gynec. and Obst. 51: 749, 1930. Google Scholar29. WildbergerBarclay HLWR: Diffuse interstitial pulmonary fibrosis, Ann. Int. Med. 43: 1127, 1955. LinkGoogle Scholar30. Willius FA: Cardiac hypertrophy and failure secondary to diffuse, bilateral congenital cystic disease of the lungs, Proc. Staff Meet., Mayo Clin. 12: 572, 1937. Google Scholar31. WomackGraham NAEA: Epithelial metaplasia in congenital cystic disease of the lung. Its possible relation to carcinoma of the bronchus, Am. J. Path. 17: 645, 1941. MedlineGoogle Scholar32. Wood HG: Congenital cystic disease of the lungs: clinical study, J. A. M. A. 103: 815, 1934. CrossrefGoogle Scholar33. Wurl OA: Hereditary clubbing of fingers and toes; case report, Mil. Surgeon 105: 217, 1949. MedlineGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: Baltimore, Maryland*Received for publication November 15, 1956.From the Department of Medicine, The Johns Hopkins University School of Medicine and The Johns Hopkins Hospital, Baltimore, Maryland.Requests for reprints should be addressed to Victor A. McKusick, M. D., Associate Professor of Medicine, The Johns Hopkins Hospital, Baltimore 5, Maryland. 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CATHCART, M.D.Carcinoma Arising in a Congenital Lung CystThe Differential Diagnosis of Miliary Diseases of the Lungs 1 April 1958Volume 48, Issue 4Page: 774-790KeywordsCarcinomatosisFibrosisGenetic diseasesHospital medicineLungsPulmonary diseasesPulmonary fibrosis ePublished: 1 December 2008 Issue Published: 1 April 1958 PDF downloadLoading ...