Difference between revisions of "Bonnet-Dechaume-Blanc syndrome"

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* There are no established risk factors for Bonnet-Dechaume-Blanc syndrome.
 
* There are no established risk factors for Bonnet-Dechaume-Blanc syndrome.
  
*
 
== Signs and symptoms ==
 
== Causes ==
 
 
*  
 
*  
  
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==== HEENT ====
 
==== HEENT ====
* [[Ophthalmoscope|Ophthalmoscopic]] exam may be abnormal with findings of [[retinal]] and [[vitreous]] [[hemorrhages]], [[retinal detachment]], [[Vein|venous]] occlusive disease, [[optic disc]] [[edema]], or [[optic atrophy]].<ref name="BloomLaidlaw1993">{{cite journal|last1=Bloom|first1=P. A|last2=Laidlaw|first2=A.|last3=Easty|first3=D. L|title=Spontaneous development of retinal ischaemia and rubeosis in eyes with retinal racemose angioma|journal=British Journal of Ophthalmology|volume=77|issue=2|year=1993|pages=124–125|issn=0007-1161|doi=10.1136/bjo.77.2.124}}</ref><ref name="pmid16148629">{{cite journal |vauthors=Reck SD, Zacks DN, Eibschitz-Tsimhoni M |title=Retinal and intracranial arteriovenous malformations: Wyburn-Mason syndrome |journal=J Neuroophthalmol |volume=25 |issue=3 |pages=205–8 |date=September 2005 |pmid=16148629 |doi= |url=}}</ref><ref name="pmid20464122">{{cite journal |vauthors=Medina FM, Maia OO, Takahashi WY |title=Rhegmatogenous retinal detachment in Wyburn-Mason syndrome: case report |journal=Arq Bras Oftalmol |volume=73 |issue=1 |pages=88–91 |date=2010 |pmid=20464122 |doi= |url=}}</ref>
+
* [[Ophthalmoscope|Ophthalmoscopic]] exam may be abnormal with findings of [[retinal]] and [[vitreous]] [[hemorrhages]], [[retinal detachment]], [[Vein|venous]] occlusive disease, [[optic disc]] [[edema]], or [[optic atrophy]].<ref name="BloomLaidlaw1993">{{cite journal|last1=Bloom|first1=P. A|last2=Laidlaw|first2=A.|last3=Easty|first3=D. L|title=Spontaneous development of retinal ischaemia and rubeosis in eyes with retinal racemose angioma|journal=British Journal of Ophthalmology|volume=77|issue=2|year=1993|pages=124–125|issn=0007-1161|doi=10.1136/bjo.77.2.124}}</ref><ref name="pmid16148629">{{cite journal |vauthors=Reck SD, Zacks DN, Eibschitz-Tsimhoni M |title=Retinal and intracranial arteriovenous malformations: Wyburn-Mason syndrome |journal=J Neuroophthalmol |volume=25 |issue=3 |pages=205–8 |date=September 2005 |pmid=16148629 |doi= |url=}}</ref><ref name="pmid20464122">{{cite journal |vauthors=Medina FM, Maia OO, Takahashi WY |title=Rhegmatogenous retinal detachment in Wyburn-Mason syndrome: case report |journal=Arq Bras Oftalmol |volume=73 |issue=1 |pages=88–91 |date=2010 |pmid=20464122 |doi= |url=}}</ref><ref name="pmid18501269">{{cite journal |vauthors=Schmidt D, Pache M, Schumacher M |title=The congenital unilateral retinocephalic vascular malformation syndrome (bonnet-dechaume-blanc syndrome or wyburn-mason syndrome): review of the literature |journal=Surv Ophthalmol |volume=53 |issue=3 |pages=227–49 |date=2008 |pmid=18501269 |doi=10.1016/j.survophthal.2007.10.001 |url=}}</ref><ref name="pmid15763202">{{cite journal |vauthors=Singh AD, Rundle PA, Rennie I |title=Retinal vascular tumors |journal=Ophthalmol Clin North Am |volume=18 |issue=1 |pages=167–76, x |date=March 2005 |pmid=15763202 |doi=10.1016/j.ohc.2004.07.005 |url=}}</ref>
* Racemose [[haemangioma]].<ref name="MeyerRodrigues2007">{{cite journal|last1=Meyer|first1=Carsten H.|last2=Rodrigues|first2=Eduardo B.|last3=Mennel|first3=Stefan|last4=Klingmüller|first4=Volker|last5=Kroll|first5=Peter|title=Functional and anatomical investigations in racemose haemangioma|journal=Acta Ophthalmologica Scandinavica|volume=85|issue=7|year=2007|pages=764–771|issn=13953907|doi=10.1111/j.1600-0420.2007.00911.x}}</ref>
+
* Racemose [[haemangioma]].<ref name="MeyerRodrigues2007">{{cite journal|last1=Meyer|first1=Carsten H.|last2=Rodrigues|first2=Eduardo B.|last3=Mennel|first3=Stefan|last4=Klingmüller|first4=Volker|last5=Kroll|first5=Peter|title=Functional and anatomical investigations in racemose haemangioma|journal=Acta Ophthalmologica Scandinavica|volume=85|issue=7|year=2007|pages=764–771|issn=13953907|doi=10.1111/j.1600-0420.2007.00911.x}}</ref><ref name="pmid">{{cite journal |vauthors=Augsburger JJ, Goldberg RE, Shields JA, Mulberger RD, Magargal LE |title=Changing appearance of retinal arteriovenous malformation |journal=Albrecht Von Graefes Arch Klin Exp Ophthalmol |volume=215 |issue=1 |pages=65–70 |date=1980 |pmid= |doi= |url=}}</ref>
 
* [[Macular]] [[ischemia]].<ref name="KaragiannisPanagiotidis2011">{{cite journal|last1=Karagiannis|first1=Dimitrios|last2=Panagiotidis|first2=Dimitrios|last3=Tsoubris|first3=Ioannis|last4=Theodossiadis|first4=Panagiotis|title=Spontaneous development of macular ischemia in a case of racemose hemangioma|journal=Clinical Ophthalmology|year=2011|pages=931|issn=1177-5483|doi=10.2147/OPTH.S21925}}</ref>
 
* [[Macular]] [[ischemia]].<ref name="KaragiannisPanagiotidis2011">{{cite journal|last1=Karagiannis|first1=Dimitrios|last2=Panagiotidis|first2=Dimitrios|last3=Tsoubris|first3=Ioannis|last4=Theodossiadis|first4=Panagiotis|title=Spontaneous development of macular ischemia in a case of racemose hemangioma|journal=Clinical Ophthalmology|year=2011|pages=931|issn=1177-5483|doi=10.2147/OPTH.S21925}}</ref>
 
* [[Proptosis]]<ref name="pmid2598528">{{cite journal |vauthors=Fujita H, Nakano K, Kumon Y, Inoue H, Sakaki S |title=[A case of Wyburn-Mason syndrome] |language=Japanese |journal=Rinsho Shinkeigaku |volume=29 |issue=8 |pages=1039–44 |date=August 1989 |pmid=2598528 |doi= |url=}}</ref>
 
* [[Proptosis]]<ref name="pmid2598528">{{cite journal |vauthors=Fujita H, Nakano K, Kumon Y, Inoue H, Sakaki S |title=[A case of Wyburn-Mason syndrome] |language=Japanese |journal=Rinsho Shinkeigaku |volume=29 |issue=8 |pages=1039–44 |date=August 1989 |pmid=2598528 |doi= |url=}}</ref>

Revision as of 18:40, 14 June 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: Wyburn mason's syndrome; Retinoencephalofacial angiomatosis

CT scan showing intracranial hemorrhage

Overview

Bonnet-Dechaume-Blanc syndrome or Wyburn mason's syndrome or Retinoencephalofacial angiomatosis is a rare arteriovenous malformation (AVMs) condition. In The United States of America in order to categorise a condition as a rare disease it should affect fewer than 200,000 people. Rare diseases also called as orphan diseases. Orphan Drug Act was passed on 1983 by congress for the rare diseases. Today an average of 25-30 million americans have been reported with rare diseases. The number of people with individual rare disease may be less but overall the number of people with rare diseases are large in number.

Historical Perspective

Pathophysiology

Causes

  • The cause of Bonnet-Dechaume-Blanc syndrome has not been identified yet.

Genetic Causes

  • Bonnet-Dechaume-Blanc syndrome may be is caused by a mutation in the genes.

Risk Factors

  • There are no established risk factors for Bonnet-Dechaume-Blanc syndrome.

Epidemiology and Demographics

Incidence

  • Fewer than 100 cases of Bonnet-Dechaume-Blanc syndrome have been reported worldwide.[5]
  • The incidence of Bonnet-Dechaume-Blanc syndrome is unknown yet.

Prevalence

  • The prevalence of Bonnet-Dechaume-Blanc syndrome is unknown yet.

Age

Race

  • There is no racial predilection to Bonnet-Dechaume-Blanc syndrome.[6]

Gender

  • Bonnet-Dechaume-Blanc syndrome affects men and women equally.[7]

History and Symptoms

Common Symptoms

Less Common Symptoms

Physical Examination

Appearance of the Patient

  • Patients with Bonnet-Dechaume-Blanc syndrome usually appear normal.

HEENT

Macular ischemia and extensive arteriovenous communications and dilated intertwined vessels. Case courtesy by Dimitrios A Karagiannis[19]
Spontaneous development of macular ischemia in a case of racemose hemangioma
Retinal racemose angioma. Case courtesy by Dimitrios A Karagiannis[20]


Diagnosis

Treatment

References

  1. Magnus, Hugo (1874). "Aneurysma arterioso-venosum retinale". Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin. 60 (1): 38–45. doi:10.1007/BF01938766. ISSN 0945-6317.
  2. Yates, A. Gurney; Paine, C. G. (1930). "A CASE OF ARTERIOVENOUS ANEURYSM WITHIN THE BRAIN". Brain. 53 (1): 38–46. doi:10.1093/brain/53.1.38. ISSN 0006-8950.
  3. Bhattacharya, J.J.; Luo, C.B.; Suh, D.C.; Alvarez, H.; Rodesch, G.; Lasjaunias, P. (2016). "Wyburn-Mason or Bonnet-Dechaume-Blanc as Cerebrofacial Arteriovenous Metameric Syndromes (CAMS)". Interventional Neuroradiology. 7 (1): 5–17. doi:10.1177/159101990100700101. ISSN 1591-0199.
  4. Wyburn-Mason, R. (1943). "ARTERIOVENOUS ANEURYSM OF MID-BRAIN AND RETINA, FACIAL NÆVI AND MENTAL CHANGES". Brain. 66 (3): 163–203. doi:10.1093/brain/66.3.163. ISSN 0006-8950.
  5. So JM, Holman RE. PMID 29630270. Missing or empty |title= (help)
  6. So JM, Holman RE. PMID 29630270. Missing or empty |title= (help)
  7. So JM, Holman RE. PMID 29630270. Missing or empty |title= (help)
  8. Lester, J. (2005). "Wyburn-Mason Syndrome". Journal of Neuroimaging. 15 (3): 284–285. doi:10.1111/j.1552-6569.2005.tb00324.x. ISSN 1051-2284.
  9. Schmidt, Dieter; Pache, Mona; Schumacher, Martin (2008). "The Congenital Unilateral Retinocephalic Vascular Malformation Syndrome (Bonnet-Dechaume-Blanc Syndrome or Wyburn-Mason Syndrome): Review of the Literature". Survey of Ophthalmology. 53 (3): 227–249. doi:10.1016/j.survophthal.2007.10.001. ISSN 0039-6257.
  10. Bloom, P. A; Laidlaw, A.; Easty, D. L (1993). "Spontaneous development of retinal ischaemia and rubeosis in eyes with retinal racemose angioma". British Journal of Ophthalmology. 77 (2): 124–125. doi:10.1136/bjo.77.2.124. ISSN 0007-1161.
  11. Reck SD, Zacks DN, Eibschitz-Tsimhoni M (September 2005). "Retinal and intracranial arteriovenous malformations: Wyburn-Mason syndrome". J Neuroophthalmol. 25 (3): 205–8. PMID 16148629.
  12. Medina FM, Maia OO, Takahashi WY (2010). "Rhegmatogenous retinal detachment in Wyburn-Mason syndrome: case report". Arq Bras Oftalmol. 73 (1): 88–91. PMID 20464122.
  13. Schmidt D, Pache M, Schumacher M (2008). "The congenital unilateral retinocephalic vascular malformation syndrome (bonnet-dechaume-blanc syndrome or wyburn-mason syndrome): review of the literature". Surv Ophthalmol. 53 (3): 227–49. doi:10.1016/j.survophthal.2007.10.001. PMID 18501269.
  14. Singh AD, Rundle PA, Rennie I (March 2005). "Retinal vascular tumors". Ophthalmol Clin North Am. 18 (1): 167–76, x. doi:10.1016/j.ohc.2004.07.005. PMID 15763202.
  15. Meyer, Carsten H.; Rodrigues, Eduardo B.; Mennel, Stefan; Klingmüller, Volker; Kroll, Peter (2007). "Functional and anatomical investigations in racemose haemangioma". Acta Ophthalmologica Scandinavica. 85 (7): 764–771. doi:10.1111/j.1600-0420.2007.00911.x. ISSN 1395-3907.
  16. Augsburger JJ, Goldberg RE, Shields JA, Mulberger RD, Magargal LE (1980). "Changing appearance of retinal arteriovenous malformation". Albrecht Von Graefes Arch Klin Exp Ophthalmol. 215 (1): 65–70.
  17. Karagiannis, Dimitrios; Panagiotidis, Dimitrios; Tsoubris, Ioannis; Theodossiadis, Panagiotis (2011). "Spontaneous development of macular ischemia in a case of racemose hemangioma". Clinical Ophthalmology: 931. doi:10.2147/OPTH.S21925. ISSN 1177-5483.
  18. Fujita H, Nakano K, Kumon Y, Inoue H, Sakaki S (August 1989). "[A case of Wyburn-Mason syndrome]". Rinsho Shinkeigaku (in Japanese). 29 (8): 1039–44. PMID 2598528.
  19. "Spontaneous development of macular ischemia in a case of racemose hemangioma".
  20. "Spontaneous development of macular ischemia in a case of racemose hemangioma".

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