Volume 2, Issue 3 (Journal of Clinical and Basic Research(JCBR) 2018)
jcbr 2018, 2(3): 19-24 |
Back to browse issues page
Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:
Parhiz J, Kami A, Lashkarbolouk N, Soltani Pasha H. A Case of Proteus Syndrome with Hemangioma Presentation. jcbr 2018; 2 (3) :19-24
URL: http://jcbr.goums.ac.ir/article-1-156-en.html
URL: http://jcbr.goums.ac.ir/article-1-156-en.html
1- Neonatal and Children's Health Research Center, School of Medicine, Golestan University of Medical Sciences, Gorgan, Iran
2- Taleghani Hospital, Golestan University of Medical Sciences, Gorgan, Iran
2- Taleghani Hospital, Golestan University of Medical Sciences, Gorgan, Iran
Abstract: (3874 Views)
Background: Proteus syndrome is a rare genetic disorder characterized by overgrowth of bones, skin, and other tissues, with vascular malformations, epidermal moles, and subcutaneous masses. We herein present a case of Proteus syndrome with extensive hemangiomas.
Case description: An 11-year-old girl with Proteus syndrome was presented with extensive hemangioma, asymmetrical growth in lower limbs, skin and bone lesions, and facial hemihypertrophy.
Conclusions: Given the severe complications of this syndrome and the risk of early death in the patients, early diagnosis is essential for reducing the risk of morbidity and mortality. These patients should be followed up for progressive skeletal deformities, hemangiomas, and malignant or benign tumors. In our case, risk of thrombosis and pulmonary embolism limited surgical intervention.
Case description: An 11-year-old girl with Proteus syndrome was presented with extensive hemangioma, asymmetrical growth in lower limbs, skin and bone lesions, and facial hemihypertrophy.
Conclusions: Given the severe complications of this syndrome and the risk of early death in the patients, early diagnosis is essential for reducing the risk of morbidity and mortality. These patients should be followed up for progressive skeletal deformities, hemangiomas, and malignant or benign tumors. In our case, risk of thrombosis and pulmonary embolism limited surgical intervention.
References
1. Sheard RM, Pope FM, Snead MP. A novel ophthalmic presentation of the proteus syndrome. Ophthalmology 2002; 109(6):1192-1195. [DOI:10.1016/S0161-6420(02)01056-4]
2. Lindhurst MJ, Sapp JC, Teer JK, Johnston JJ, Finn EM, Peters K, Turner J, Cannons JL, Bick D, Blakemore L, Blumhorst C. A mosaic activating mutation in AKT1 associated with the Proteus syndrome. New England Journal of Medicine. 2011; 365(7):611-9. [DOI:10.1056/NEJMoa1104017]
3. Turner JT, Cohen Jr MM, Biesecker LG. Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases. American Journal of Medical Genetics Part A. 2004 Oct 1; 130 (2):111-22. [DOI:10.1002/ajmg.a.30327]
4. Ou M, Sun Z, Zhu P, Sun G, Dai Y. Proteus syndrome: A case report and review of the literature. Molecular and clinical oncology. 2017 Mar 1; 6(3):381-3. [DOI:10.3892/mco.2017.1140]
5. Cohen MM. Proteus syndrome: an update. American Journal of Medical Genetics Part C: Seminars in Medical Genetics 2005 Aug 15 (Vol. 137, No. 1, pp. 38-52). Wiley-Blackwell.
6. Popescu MD, Burnei G, Draghici L, Draghici I. Proteus syndrome: a difficult diagnosis and management plan. Journal of medicine and life. 2014 Oct; 7(4):563.
7. Lougaris V, Salpietro V, Cutrupi M, Baronio M, Moratto D, Pizzino MR, Mankad K, Briuglia S, Salpietro C, Plebani A. Proteus syndrome: evaluation of the immunological profile. Orphanet journal of rare diseases. 2016 Dec; 11(1):3. [DOI:10.1186/s13023-015-0381-z]
8. Biesecker L. The challenges of Proteus syndrome: diagnosis and management. European Journal of Human Genetics. 2006 Nov; 14(11):1151. [DOI:10.1038/sj.ejhg.5201638]
9. Keppler‐Noreuil KM, Lozier JN, Sapp JC, Biesecker LG. Characterization of thrombosis in patients with Proteus syndrome. American Journal of Medical Genetics Part A. 2017 Sep; 173(9):2359-65. [DOI:10.1002/ajmg.a.38311]
| Rights and permissions | |
 |
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International (CC BY-NC 4.0).