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Proteus syndrome: emphasis on the pulmonary manifestations

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Abstract

Published articles on the radiologic aspects of Proteus syndrome are sparse. This report highlights the features of this disease with specific attention to the serious pulmonary manifestations that may occur at an early age. Two cases of Proteus syndrome and severe lung disease are presented, with complete autopsy in one case and correlative surgical pathologic data in the other. Multiple superficial and visceral vascular abnormalities were present in both cases. Both patients developed rapidly progressive diffuse cystic emphysematous pulmonary disease leading to the death of one patient at age 18 years and a heart-lung transplant in the other at age 8 1/2 years. Extensive gross pulmonary cysts were evident pathologically with diffuse panlobar emphysema microscopically. Studies of collagen and cultured fibroblasts in one patient revealed no abnormality. The early presentation, rapid progression and potentially lethal nature of lung involvement has not previously been emphasized.

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References

  1. Cohen MM Jr (1988) Understanding Proteus syndrome, unmasking the elephant man, and stemming elephant fever. Neurofibromatosis 1:260

    PubMed  Google Scholar 

  2. Wiedemann HR, Burgio GR, Aldenhoff P, Kunze J, Kaufmann HJ, Schirg E (1983) The Proteus syndrome. Eur J Pediatr 140:5

    Article  PubMed  Google Scholar 

  3. Lezama DB, Buyse ML (1984) The Proteus syndrome: the emergence of an entity. J of Clin Dysmorphol 2:10

    Google Scholar 

  4. Samlaska CP, Levin SW, James WD, Benson PM, Walker JC, Perlik PC (1989) Proteus syndrome. Arch Dermatol 125:1109

    Article  PubMed  Google Scholar 

  5. Say B, Carpenter NJ (1988) Report of a case resembling the Proteus syndrome with a chromosome abnormality. Am J Med Genet 31:987

    Article  PubMed  Google Scholar 

  6. Happle R (1987) Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin. J Am Acad Dermatol 16:899

    PubMed  Google Scholar 

  7. Cohen MM Jr, Hayden PW (1979) A newly recognized hamartomatous syndrome. Birth Defects XV (5B): 291

    Google Scholar 

  8. Hotamisligil GS (1990) Proteus syndrome and hamartoses with overgrowth. Dysmorphol Clin Genet 4:87

    Google Scholar 

  9. Burntein MI, Kottamasu SR, Weiss L, Katz ME (1988) Case report 509. Skeletal Radiol 17:536

    Article  PubMed  Google Scholar 

  10. Costa T, Fitch N, Azouz EM (1985) Proteus syndrome: report of two cases with pelvic lipomatosis. Pediatrics 76:984

    PubMed  Google Scholar 

  11. Hotamisligil GS, Ertogan F (1990) The Proteus syndrome: association with nephrogenic diabetes insipidus. Clin Genet 38: 139

    PubMed  Google Scholar 

  12. Burgio GR, Wiedemann HR (1984) Further and new details on the Proteus syndrome. Eur J Pediatr 143:71

    Article  PubMed  Google Scholar 

  13. Clark RD, Donnai D, Rogers J, Cooper J, Baraitser M (1987) Proteus syndrome: an expanded phenotype. Am J Med Genet 27:99

    Article  PubMed  Google Scholar 

  14. Hornstein L, Bove KE, Towbin RB (1987) Linear nevi, hemihypertrophy, connective tissue hamartomas, and unusual neoplasms in children. J Pediatr 110:404

    PubMed  Google Scholar 

  15. Azouz EM, Costa T, Fitch N (1987) Radiologic findings in the Proteus syndrome. Pediatr Radiol 17:481

    PubMed  Google Scholar 

  16. Cremin BJ, Viljoen DL, Wynchank S, Beighton P (1987) The Proteus syndrome: the magnetic resonance and radiological features. Pediatr Radiol 17:486

    PubMed  Google Scholar 

  17. Bender BL, Yunis E (1979) Fibrocartilaginous lesions of bone and hemangiomas and lipomas of soft tissue resembling Maffucci's syndrome. J Bone Joint Surg [Am] 61:1104

    Google Scholar 

  18. Mayatepek E, Kurczynski TW, Ruppert ES, Hennessy JR, Brinker RA, French BN (1989) Expanding the phenotype of the Proteus syndrome: a severely affected patient with new findings. Am J Med Genet 32:402

    Article  PubMed  Google Scholar 

  19. Temtamy SA, Rogers JG (1976) Macrodactyly, hemihypertrophy, and connective tissue nevi: report of a new syndrome and review of the literature. J Pediatr 89:924

    PubMed  Google Scholar 

  20. Fay JT, Schow SR (1968) A possible case of Maffucci's syndrome: report of case. J Oral Surg 26:739

    PubMed  Google Scholar 

  21. Bialer MG, Riedy MJ, Wilson WG (1988) Proteus syndrome versus Bannayan-Zonana syndrome: a problem in differential diagnosis. Eur J Pediatr 148:122

    Article  PubMed  Google Scholar 

  22. Pennant JH, Harris MF (1991) Anaesthesia for Proteus syndrome. Anaesthesia 46:126

    PubMed  Google Scholar 

  23. Day DL, Burke BA (1986) Pulmonary emphysema in a neonate with marfan syndrome. Pediatr Radiol 16:518

    PubMed  Google Scholar 

  24. Webb WR, Goodman PC (1977) Fibrosing alveolitis in patients with neurofibromatosis. Radiology 122:289

    PubMed  Google Scholar 

  25. Wood JR, Bellamy D, Child AH, Citron KM (1984) Pulmonary disease in patients with Marfan syndrome. Thorax 39:780

    PubMed  Google Scholar 

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Authors and Affiliations

  1. Department of Radiology, Children's Hospital of Pittsburgh and the University of Pittsburgh, 3705 Fifth Avenue, 15213, Pittsburgh, PA, USA

    B. Newman

  2. Department of Pediatrics, Children's Hospital of Pittsburgh and the University of Pittsburgh, 3705 Fifth Avenue, 15213, Pittsburgh, PA, USA

    A. H. Urbach & D. Orenstein

  3. Department of Pathology, Children's Hospital of Pittsburgh and the University of Pittsburgh, 3705 Fifth Avenue, 15213, Pittsburgh, PA, USA

    P. S. Dickman

Authors
  1. B. Newman
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  2. A. H. Urbach
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  3. D. Orenstein
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  4. P. S. Dickman
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Newman, B., Urbach, A.H., Orenstein, D. et al. Proteus syndrome: emphasis on the pulmonary manifestations. Pediatr Radiol 24, 189–193 (1994). https://doi.org/10.1007/BF02012188

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  • DOI: https://doi.org/10.1007/BF02012188

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