Proteus Syndrome: A Rare Case in An Adult Ward

Catarina Duarte Santos; Rita  Lizardo Grácio; Tatiana  Costa Pires; Miguel González Santos; Rita  Jesus Rodrigues; Miriam Magalhães; Alcina Mota Ponte

doi:10.12890/2021_002554

Catarina Duarte Santos
Department of Internal Medicine, Centro Hospitalar de Leiria, Leiria, Portugal
Rita Lizardo Grácio
Department of Internal Medicine, Centro Hospitalar de Leiria, Leiria, Portugal https://orcid.org/0000-0001-9041-4028
Tatiana Costa Pires
Department of Internal Medicine, Centro Hospitalar de Leiria, Leiria, Portugal https://orcid.org/0000-0002-9048-2087
Miguel González Santos
Department of Internal Medicine, Centro Hospitalar de Leiria, Leiria, Portugal https://orcid.org/0000-0002-5032-6426
Rita J Rodrigues
Department of Internal Medicine, Centro Hospitalar de Leiria, Leiria, Portugal https://orcid.org/0000-0002-3123-1165
Miriam Magalhães
Department of Internal Medicine, Centro Hospitalar de Leiria, Leiria, Portugal https://orcid.org/0000-0002-2219-2707
Alcina Mota Ponte
Department of Internal Medicine, Centro Hospitalar de Leiria, Leiria, Portugal https://orcid.org/0000-0002-5468-9224

Keywords

Proteus syndrome, overgrowth, thromboembolism

Abstract

Proteus syndrome is an extremely rare disorder that manifests as an asymmetric, disproportionate overgrowth of any connective tissue, such as bone, fat or epidermal nevi, in a mosaic or patchy pattern. It has an estimated prevalence of less than 1/1,000,000 live births. The diagnosis can be difficult because the phenotypes of the patients are variable. Many individuals develop cutaneous capillary malformation and prominent varicosities (large and complex vascular malformations). Thus, Proteus syndrome patients are at risk of developing deep vein thrombosis and pulmonary embolism. The authors present the case of a patient with Proteus syndrome who was admitted because of pulmonary thromboembolism and presented hypertrophy of the left arm and left hemithorax.

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References

Amer N, Al Helal J, Al Hajji M, Al Abduljabbar A, Al Arfaj M, Al Sadery H, et al. Proteus syndrome, a rare case with an unusual presentation: case report. Int J Surg Case Rep 2020;72:339–342.

Satter E. Proteus syndrome: 2 case reports and a review of the literature. Cutis 2007;80(4):297–302. PMID: 18038691.

Ou M, Sun Z, Zhu P, Sun G, Dai Y. Proteus syndrome: a case report and review of the literature. Mol Clin Oncol 2017;6:381–383.

Sene LS, de Oliveira Sales P, Chojniak R. Síndrome de Proteus: relato de caso. Rev Assoc Med Bras 2013;59(4):318–320.

Biesecker L. The challenges of Proteus syndrome: diagnosis and management. Eur J Hum Genet 2006;14(11):1151–1157. doi: 10.1038/sj.ejhg.5201638. PMID: 16883308.

Cruz R, Nunes ALS, Fortuna CMM, Pimentel HM, Teixeira E. Síndrome de Proteus: relato de dois casos e revisão de literatura. Rev Bras Ortop 1999;34(4).

Biesecker LG, Sapp JC. Proteus syndrome. NCBI Bookshelf, 2012. https://www.ncbi.nlm.nih.gov/books/NBK99495/

Cohen Jr MM. Proteus syndrome: an update. Am J Med Genet C Semin Med Genet 2005;137C(1):38–52.

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Published: 2021-04-28
Issue: 2021: Vol 8 No 4 (view)

How to cite:

1.

Duarte Santos C, Lizardo Grácio R, Costa Pires T, González Santos M, Jesus Rodrigues R, Magalhães M, Mota Ponte A. Proteus Syndrome: A Rare Case in An Adult Ward. EJCRIM 2021;8 doi:10.12890/2021_002554.

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