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Proteus syndrome

Written2008-04Peter L Choyke, Leslie G Biesecker
Molecular Imaging Program, Building 10, Room 1B40, 9000 Rockville Pike, Bethesda, MD 20892-1088, USA (PLC); National Human Genome Research Institute, National Institutes of Health, 49 Convent Drive Room 4A56, Bethesda, MD 20892-4472, USA (LGB)

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Identity

Other namesElattoproteus syndrome
Gigantism
Encephalocraniocutaneous lipomatosis
Elephant man syndrome
Atlas_Id 10145
Genes implicated inHMGA2  
Note Proteus is a sporadic disorder resulting in a mosaic pattern of tissue overgrowth. The most common manifestations are macrodactyly, asymmetric fat and /or muscle and bone distribution, connective tissue and epidermal nevi, lymphatic and vascular malformations, and hyperostoses.
Inheritance Sporadic.

Clinics

Phenotype and clinics General criteria for the diagnosis include mosaic distribution of lesions, progressive course from birth, sporadic occurrence. Supportive findings include connective tissue nevi (characteristically on the soles of the feet and/or on the chest wall), epidermal nevus, disproportionate overgrowth leading to asymmetry. Asymmetric dysregulation of fat in the subcutaneous space lead to unilateral or localized overgrowth and contralateral atrophy of subcutaneous fat. The spine commonly demonstrates scoliosis. Bullous lung disease is often seen and can lead to respiratory insufficiency and pneumonias. Benign tumors include lipomas, lymphangiomas, epidermal nevi, and vascular malformations. There is an increased risk of pulmonary embolism and this is a prominent cause of early death. Cord compression can result from fatty overgrowth into the spinal canal.
Neoplastic risk The risk of malignancy is low. Benign tumors include lipomas, hemangiomas, vascular malformations, lymphangiomas. Neoplasms that have been reported include a mesothelioma, papillary carcinoma of the thyroid, ovarian serous cystadenoma, meningioma, optic nerve tumor and endometrial carcinoma but no systematic risk for particular tumors has been observed.
Treatment Treatment is usually conservative and symptomatic. Surgical repair of severe skeletal distortion is performed although growth is often progressive despite procedures. There is growing concern over the risk of pulmonary embolism although clinical recommendations for prevention have not been established.
Prognosis Longevity is likely affected by Proteus syndrome. A known cause of premature death is pulmonary embolism. Respiratory deaths due to cystic lung disease, massive rib overgrowth and laryngospasm have also been reported. CNS deaths have also occurred from seizures and a cerebellar abscess.

Cytogenetics

Note No cytogenetic aberrations have been observed in patients with confirmed Proteus syndrome.

Genes involved and Proteins

Gene NameHMGA2 (high mobility group AT-hook 2)
Location 12q14.3
Note The gene responsible for Proteus syndrome are unknown. This gene, however, is overexpressed in Proteus-associated tumors such as lipomas, salivary gland tumors, leiomyomas and lung hamartomas.

Gene NamePTEN (Phosphatase and Tensin homolog deleted on chromosome Ten)
Location 10q23.31
Note The evidence implicating this gene in Proteus syndrome is weak.

Bibliography

The challenges of Proteus syndrome: diagnosis and management.
Biesecker L.
Eur J Hum Genet. 2006 Nov;14(11):1151-7. Epub 2006 Aug 2. Review.
PMID 16883308
 
Misdiagnosis of neurofibromatosis type 1 as Proteus syndrome.
Biesecker LG, Cohen MM Jr.
Panminerva Med. 2005 Sep;47(3):197.
PMID 16462730
 
Proteus syndrome: misdiagnosis with PTEN mutations.
Cohen MM Jr, Turner JT, Biesecker LG.
Am J Med Genet A. 2003 Nov 1;122(4):323-4.
PMID 14518070
 
Proteus syndrome: an update.
Cohen MM Jr.
Am J Med Genet C Semin Med Genet. 2005 Aug 15;137(1):38-52.
PMID 16010681
 
Vascular anomalies and the growth of limbs: a review.
Enjolras O, Chapot R, Merland JJ.
J Pediatr Orthop B. 2004 Nov;13(6):349-57. Review.
PMID 15599224
 
Unusual fallopian tube neoplasm in a 10-year-old patient with Proteus syndrome: a case report and review of the literature.
Funk T, Frew P, Rodgers W, Troxell M.
Pediatr Dev Pathol. 2006 Jul-Aug;9(4):316-20. Review.
PMID 16944982
 
Vascular anomalies in Proteus syndrome.
Hoeger PH, Martinez A, Maerker J, Harper JI.
Clin Exp Dermatol. 2004 May;29(3):222-30. Review.
PMID 15115498
 
Histopathological features of Proteus syndrome.
Hoey SE, Eastwood D, Monsell F, Kangesu L, Harper JI, Sebire NJ.
Clin Exp Dermatol. 2008 May;33(3):234-8. Epub 2008 Jan 16.
PMID 18205855
 
Radiologic manifestations of Proteus syndrome.
Jamis-Dow CA, Turner J, Biesecker LG, Choyke PL.
Radiographics. 2004 Jul-Aug;24(4):1051-68. Review.
PMID 15256628
 
Principles for the surgical management of patients with Proteus syndrome and patients with overgrowth not meeting Proteus criteria.
Lublin M, Schwartzentruber DJ, Lukish J, Chester C, Biesecker LG, Newman KD.
J Pediatr Surg. 2002 Jul;37(7):1013-20. Review.
PMID 12077761
 
Proteus syndrome with giant myelolipoma in the pelvis.
Matsumoto S, Takahashi S, Goto T, Tomita K, Takeuchi T, Kitamura T.
Int J Urol. 2005 Nov;12(11):1005-6.
PMID 16351661
 
Proteus syndrome in adulthood.
Muller E, Lichtendahl DH, Hofer SO.
Ann Plast Surg. 2002 Feb;48(2):197-201.
PMID 11910228
 
Perioperative respiratory complications caused by cystic lung malformation in Proteus syndrome.
Nakane M, Sato M, Hattori H, Matsumoto Y, Otsuki M, Murakawa M.
J Anesth. 2006;20(1):26-9.
PMID 16421672
 
Cutaneous manifestations of proteus syndrome: correlations with general clinical severity.
Nguyen D, Turner JT, Olsen C, Biesecker LG, Darling TN.
Arch Dermatol. 2004 Aug;140(8):947-53.
PMID 15313810
 
Parenting children with Proteus syndrome: experiences with, and adaptation to, courtesy stigma.
Turner J, Biesecker B, Leib J, Biesecker L, Peters KF.
Am J Med Genet A. 2007 Sep 15;143(18):2089-97.
PMID 17702022
 
Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases.
Turner JT, Cohen MM Jr, Biesecker LG.
Am J Med Genet A. 2004 Oct 1;130(2):111-22. Review.
PMID 15372514
 
Evolution of skin lesions in Proteus syndrome.
Twede JV, Turner JT, Biesecker LG, Darling TN.
J Am Acad Dermatol. 2005 May;52(5):834-8.
PMID 15858474
 
Paraparesis caused by an angiolipomatous hamartoma in an adolescent with Proteus syndrome and scoliosis.
White NJ, Cochrane DD, Beauchamp R.
J Neurosurg. 2005 Sep;103(3 Suppl):282-4.
PMID 16238085
 

Citation

This paper should be referenced as such :
Choyke, PL ; Biesecker, LG
Proteus syndrome
Atlas Genet Cytogenet Oncol Haematol. 2009;13(4):323-324.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Tumors/ProteusID10145.html


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