Proteus syndrome: Difference between revisions

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==[[Proteus syndrome differential diagnosis|Differentiating Proteus syndrome from other Diseases]]==
==[[Proteus syndrome differential diagnosis|Differentiating Proteus syndrome from other Diseases]]==
Proteus syndrome must be differentiated from the following rare disorders:<ref name="pmid19011570">{{cite journal |vauthors=Alomari AI |title=Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular, and acral anomalies: a descriptive study of 18 cases of CLOVES syndrome |journal=Clin. Dysmorphol. |volume=18 |issue=1 |pages=1–7 |date=January 2009 |pmid=19011570 |doi=10.1097/MCD.0b013e328317a716 |url=}}</ref><ref name="pmid17963221">{{cite journal |vauthors=Sapp JC, Turner JT, van de Kamp JM, van Dijk FS, Lowry RB, Biesecker LG |title=Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients |journal=Am. J. Med. Genet. A |volume=143A |issue=24 |pages=2944–58 |date=December 2007 |pmid=17963221 |doi=10.1002/ajmg.a.32023 |url=}}</ref><ref name="pmid28571234">{{cite journal |vauthors=Acosta S, Torres V, Paulos M, Cifuentes I |title=CLOVES Syndrome: Severe Neonatal Presentation |journal=J Clin Diagn Res |volume=11 |issue=4 |pages=TR01–TR03 |date=April 2017 |pmid=28571234 |pmc=5449880 |doi=10.7860/JCDR/2017/23801.9719 |url=}}</ref><ref name="pmid29231959">{{cite journal |vauthors=Michel ME, Konczyk DJ, Yeung KS, Murillo R, Vivero MP, Hall AM, Zurakowski D, Adams D, Gupta A, Huang AY, Chung BHY, Warman ML |title=Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA-related overgrowth spectrum |journal=Clin. Genet. |volume=93 |issue=5 |pages=1075–1080 |date=May 2018 |pmid=29231959 |doi=10.1111/cge.13195 |url=}}</ref>  
Proteus syndrome must be differentiated from the following rare disorders:<ref name="pmid19011570">{{cite journal |vauthors=Alomari AI |title=Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular, and acral anomalies: a descriptive study of 18 cases of CLOVES syndrome |journal=Clin. Dysmorphol. |volume=18 |issue=1 |pages=1–7 |date=January 2009 |pmid=19011570 |doi=10.1097/MCD.0b013e328317a716 |url=}}</ref><ref name="pmid17963221">{{cite journal |vauthors=Sapp JC, Turner JT, van de Kamp JM, van Dijk FS, Lowry RB, Biesecker LG |title=Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients |journal=Am. J. Med. Genet. A |volume=143A |issue=24 |pages=2944–58 |date=December 2007 |pmid=17963221 |doi=10.1002/ajmg.a.32023 |url=}}</ref><ref name="pmid28571234">{{cite journal |vauthors=Acosta S, Torres V, Paulos M, Cifuentes I |title=CLOVES Syndrome: Severe Neonatal Presentation |journal=J Clin Diagn Res |volume=11 |issue=4 |pages=TR01–TR03 |date=April 2017 |pmid=28571234 |pmc=5449880 |doi=10.7860/JCDR/2017/23801.9719 |url=}}</ref><ref name="pmid29231959">{{cite journal |vauthors=Michel ME, Konczyk DJ, Yeung KS, Murillo R, Vivero MP, Hall AM, Zurakowski D, Adams D, Gupta A, Huang AY, Chung BHY, Warman ML |title=Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA-related overgrowth spectrum |journal=Clin. Genet. |volume=93 |issue=5 |pages=1075–1080 |date=May 2018 |pmid=29231959 |doi=10.1111/cge.13195 |url=}}</ref><ref name="pmid10400993">{{cite journal |vauthors=Marsh DJ, Kum JB, Lunetta KL, Bennett MJ, Gorlin RJ, Ahmed SF, Bodurtha J, Crowe C, Curtis MA, Dasouki M, Dunn T, Feit H, Geraghty MT, Graham JM, Hodgson SV, Hunter A, Korf BR, Manchester D, Miesfeldt S, Murday VA, Nathanson KL, Parisi M, Pober B, Romano C, Eng C |title=PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome |journal=Hum. Mol. Genet. |volume=8 |issue=8 |pages=1461–72 |date=August 1999 |pmid=10400993 |doi= |url=}}</ref>  
* Encephalocraniocutaneous [[lipomatosis]]  
* Encephalocraniocutaneous [[lipomatosis]]  
* Hemihyperplasia [[lipomatosis]] syndrome  
* Hemihyperplasia [[lipomatosis]] syndrome  

Revision as of 00:02, 1 April 2019


Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]

Synonyms and keywords:PS

Overview

Proteus syndrome is an exceedingly rare disorder which falls under the category of hamartomatous disorder. Proteus syndrome is a very complex disorder which involves multiple organ systems in the body.

Historical Perspective

Discovery

  • Proteus syndrome was first discovered by Frederick Treves, a British surgeon, in 1884.
  • Frederick Treves showed the proteus syndrome on Joseph Merrick, who used to be called as the famous Elephant Man, to the Pathological Society of London.

Classification

Pathophysiology

Causes

Differentiating Proteus syndrome from other Diseases

Proteus syndrome must be differentiated from the following rare disorders:[11][12][13][14][15]

Epidemiology and Demographics

Incidence

  • The incidence of proteus syndrome is approximately 1 per 1,000,000 individuals worldwide.

Race

  • There is no racial predilection to proteus syndrome.

Gender

  • Males are more commonly affected by proteus syndrome than females.

Risk Factors

Screening

Natural History, Complications, and Prognosis

Diagnosis

Diagnostic study of choice

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X-Ray Findings

Echocardiography and Ultrasound

CT-Scan Findings

MRI Findings

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

References

  1. ↑ Caux F, Plauchu H, Chibon F, Faivre L, Fain O, Vabres P, Bonnet F, Selma ZB, Laroche L, Gérard M, Longy M (July 2007). "Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity". Eur. J. Hum. Genet. 15 (7): 767–73. doi:10.1038/sj.ejhg.5201823. PMID 17392703.
  2. ↑ Zhou X, Hampel H, Thiele H, Gorlin RJ, Hennekam RC, Parisi M, Winter RM, Eng C (July 2001). "Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes". Lancet. 358 (9277): 210–1. PMID 11476841.
  3. ↑ Happle R (2007). "Linear Cowden nevus: a new distinct epidermal nevus". Eur J Dermatol. 17 (2): 133–6. doi:10.1684/ejd.2007.0125. PMID 17337396.
  4. ↑ Nelen MR, Padberg GW, Peeters EA, Lin AY, van den Helm B, Frants RR, Coulon V, Goldstein AM, van Reen MM, Easton DF, Eeles RA, Hodgsen S, Mulvihill JJ, Murday VA, Tucker MA, Mariman EC, Starink TM, Ponder BA, Ropers HH, Kremer H, Longy M, Eng C (May 1996). "Localization of the gene for Cowden disease to chromosome 10q22-23". Nat. Genet. 13 (1): 114–6. doi:10.1038/ng0596-114. PMID 8673088.
  5. ↑ Krymskaya VP, Goncharova EA (February 2009). "PI3K/mTORC1 activation in hamartoma syndromes: therapeutic prospects". Cell Cycle. 8 (3): 403–13. doi:10.4161/cc.8.3.7555. PMID 19177005.
  6. ↑ Sansal I, Sellers WR (July 2004). "The biology and clinical relevance of the PTEN tumor suppressor pathway". J. Clin. Oncol. 22 (14): 2954–63. doi:10.1200/JCO.2004.02.141. PMID 15254063.
  7. ↑ Stambolic V, Suzuki A, de la Pompa JL, Brothers GM, Mirtsos C, Sasaki T, Ruland J, Penninger JM, Siderovski DP, Mak TW (October 1998). "Negative regulation of PKB/Akt-dependent cell survival by the tumor suppressor PTEN". Cell. 95 (1): 29–39. PMID 9778245.
  8. ↑ Nelen MR, Padberg GW, Peeters EA, Lin AY, van den Helm B, Frants RR, Coulon V, Goldstein AM, van Reen MM, Easton DF, Eeles RA, Hodgsen S, Mulvihill JJ, Murday VA, Tucker MA, Mariman EC, Starink TM, Ponder BA, Ropers HH, Kremer H, Longy M, Eng C (May 1996). "Localization of the gene for Cowden disease to chromosome 10q22-23". Nat. Genet. 13 (1): 114–6. doi:10.1038/ng0596-114. PMID 8673088.
  9. ↑ Keniry M, Parsons R (September 2008). "The role of PTEN signaling perturbations in cancer and in targeted therapy". Oncogene. 27 (41): 5477–85. doi:10.1038/onc.2008.248. PMID 18794882.
  10. ↑ Lindhurst MJ, Sapp JC, Teer JK, Johnston JJ, Finn EM, Peters K, Turner J, Cannons JL, Bick D, Blakemore L, Blumhorst C, Brockmann K, Calder P, Cherman N, Deardorff MA, Everman DB, Golas G, Greenstein RM, Kato BM, Keppler-Noreuil KM, Kuznetsov SA, Miyamoto RT, Newman K, Ng D, O'Brien K, Rothenberg S, Schwartzentruber DJ, Singhal V, Tirabosco R, Upton J, Wientroub S, Zackai EH, Hoag K, Whitewood-Neal T, Robey PG, Schwartzberg PL, Darling TN, Tosi LL, Mullikin JC, Biesecker LG (August 2011). "A mosaic activating mutation in AKT1 associated with the Proteus syndrome". N. Engl. J. Med. 365 (7): 611–9. doi:10.1056/NEJMoa1104017. PMC 3170413. PMID 21793738.
  11. ↑ Alomari AI (January 2009). "Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular, and acral anomalies: a descriptive study of 18 cases of CLOVES syndrome". Clin. Dysmorphol. 18 (1): 1–7. doi:10.1097/MCD.0b013e328317a716. PMID 19011570.
  12. ↑ Sapp JC, Turner JT, van de Kamp JM, van Dijk FS, Lowry RB, Biesecker LG (December 2007). "Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients". Am. J. Med. Genet. A. 143A (24): 2944–58. doi:10.1002/ajmg.a.32023. PMID 17963221.
  13. ↑ Acosta S, Torres V, Paulos M, Cifuentes I (April 2017). "CLOVES Syndrome: Severe Neonatal Presentation". J Clin Diagn Res. 11 (4): TR01–TR03. doi:10.7860/JCDR/2017/23801.9719. PMC 5449880. PMID 28571234.
  14. ↑ Michel ME, Konczyk DJ, Yeung KS, Murillo R, Vivero MP, Hall AM, Zurakowski D, Adams D, Gupta A, Huang AY, Chung B, Warman ML (May 2018). "Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA-related overgrowth spectrum". Clin. Genet. 93 (5): 1075–1080. doi:10.1111/cge.13195. PMID 29231959. Vancouver style error: initials (help)
  15. ↑ Marsh DJ, Kum JB, Lunetta KL, Bennett MJ, Gorlin RJ, Ahmed SF, Bodurtha J, Crowe C, Curtis MA, Dasouki M, Dunn T, Feit H, Geraghty MT, Graham JM, Hodgson SV, Hunter A, Korf BR, Manchester D, Miesfeldt S, Murday VA, Nathanson KL, Parisi M, Pober B, Romano C, Eng C (August 1999). "PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome". Hum. Mol. Genet. 8 (8): 1461–72. PMID 10400993.
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