Literature DB >> 21412980

Pulmonary manifestations in Proteus syndrome: pulmonary varicosities and bullous lung disease.

Gye-Yeon Lim1, Ok-Hwa Kim, Hyun Woo Kim, Ki Seok Lee, Kyung Hee Kang, Hae-Ryong Song, Tae-Joon Cho.   

Abstract

We report on two patients with Proteus syndrome (PS), with emphasis on its pulmonary manifestations. The first patient was a 6-year-old girl diagnosed with PS at 5 years of age. The pulmonary abnormalities first observed at age 3 years and included streaky densities with accentuated vascular markings detected by chest radiography. The patient had persistent abnormalities on follow-up chest radiographs. Chest computed tomography (CT) scans showed diffuse pulmonary venous dilatations. The second patient was a 10-year-old boy diagnosed with PS at age 4 years. Chest radiography and CT scans showed patchy and streaky densities intermixed with small bullae, which were interpreted as pneumonia with post-inflammatory pneumatoceles. The patient developed diffuse enlargement of air spaces of the lungs at age 10 years with severe respiratory compromise. Although pulmonary manifestations in PS are uncommon, recognition of pulmonary vein malformation and the presentation of enlarged air spaces in the lungs at an earlier age are important for accurate diagnosis. The plain radiograph findings of accentuated vascular markings seen in patients with PS may appear similar to interstitial or chronic pneumonia. This report emphasizes the features of lung involvement in children with PS and suggests that specific attention be paid to pulmonary manifestations using chest CT scans. © 2011 Wiley-Liss, Inc.
Copyright © 2011 Wiley-Liss, Inc.

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Year:  2011        PMID: 21412980     DOI: 10.1002/ajmg.a.33926

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  5 in total

1.  Allelic heterogeneity of Proteus syndrome.

Authors:  Anna Buser; Marjorie J Lindhurst; Hannah C Kondolf; Miranda R Yourick; Kim M Keppler-Noreuil; Julie C Sapp; Leslie G Biesecker
Journal:  Cold Spring Harb Mol Case Stud       Date:  2020-06-12

Review 2.  Diffuse cystic lung diseases.

Authors:  Jay H Ryu; Xinlun Tian; Misbah Baqir; Kaifeng Xu
Journal:  Front Med       Date:  2013-05-11       Impact factor: 4.592

3.  Proteus syndrome: Clinical diagnosis of a series of cases.

Authors:  Cresio Alves; Angelina X Acosta; Maria Betânia P Toralles
Journal:  Indian J Endocrinol Metab       Date:  2013-11

4.  Clinical report: one year of treatment of Proteus syndrome with miransertib (ARQ 092).

Authors:  Leslie G Biesecker; Matthew Edwards; Sheridan O'Donnell; Paula Doherty; Thomas MacDougall; Kate Tith; Julia Kazakin; Brian Schwartz
Journal:  Cold Spring Harb Mol Case Stud       Date:  2020-02-03

5.  Cardiothoracic imaging findings of Proteus syndrome.

Authors:  S Mojdeh Mirmomen; Andrew E Arai; Evrim B Turkbey; Andrew J Bradley; Julie C Sapp; Leslie G Biesecker; Arlene Sirajuddin
Journal:  Sci Rep       Date:  2021-03-22       Impact factor: 4.996

  5 in total

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