Rudolf Happle - Dermatología, University of Freiburg Medical Center, Freiburg, Alemania.
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El jueves y viernes 10 y 11 de mayo del 2018 realizamos en la Fundación Ramón Areces un Simposio Internacional, en el cual se trató el tema del mosaicismo somático en malformaciones vasculares.
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Rudolf Happle - Dermatología, University of Freiburg Medical Center, Freiburg, Alemania.
- 1. Rudolf Happle Department of Dermatology University of Freiburg Germany A fresh look at capillary malformations:A fresh look at capillary malformations: Why do we need particular namesWhy do we need particular names for different vascular skin lesions?for different vascular skin lesions? Madrid 10 May 2018
- 3. International Society for the Study of Vascular Anomalies (ISSVA)
- 6. According to the ISSVA, the diagnosis is capillary malformation
- 7. According to the ISSVA, the diagnosis is capillary malformation
- 8. Lee MS et al: J Am Acad Dermatol 2013 According to the ISSVA, the diagnosis is capillary malformation
- 10. Klippel-Trenaunay syndrome: CM + VM +/− LM + limb overgrowth Parkes-Weber syndrome: CM + AVF + limb overgrowth Servelle-Martorell syndrome: limb VM + bone undergrowth Sturge-Weber syndrome: facial + leptomeningeal CM + ocular anomalies +/ − bone and/or soft tissue overgrowth Limb CM + congenital nonprogressive limb hypertrophy Maffucci syndrome: VM +/− spindle cell hemangioma + enchondroma Macrocephaly-CM (M-CM)/megalencephaly-CM-polymicrogyria (MCAP) Microcephaly-CM (MICCAP) CLOVES syndrome: LM + VM + CM +/− AVM + lipomatous overgrowth Proteus syndrome: CM, VM and/or LM + asymmetric somatic overgrowth Bannayan-Riley-Ruvalcaba syndrome: AVM + VM + macrocephaly, lipomatous overgrowth Wassef M et al and ISSVA Board and Scientific Committee: Pediatrics 2015 Vascular Anomalies Classification: Recommendations From the International Society for the Study of Vascular Anomalies For clinical dermatologists this classification is worthless!
- 12. Capillary nevi
- 13. All of these capillary neviAll of these capillary nevi can occurcan occur without any extracutaneous anomaly!without any extracutaneous anomaly!
- 14. Rhodoid nevus (Vikkula nevus)Rhodoid nevus (Vikkula nevus) Nevus vascularis mixtusNevus vascularis mixtus Congenital livedo reticularisCongenital livedo reticularis Nevus flammeusNevus flammeus Nevus roseusNevus roseus GNAQ GNA11 RASA1 EPHB4 PIK3CA ? ?
- 18. Diociaiuti A et al: J Am Acad Dermatol 2005 Jordaan HF, Happle R: Br J Dermatol 2008 Phacomatosis spilorosea: Macular nevus spilus combined with nevus roseus Happle R: J Eur Acad Dermatol Venereol 2015
- 21. A rather frequently occurring capillary malformation that deserves a specific name: Rhodoid nevus (Vikkula nevus) Thanks to Dr. Regina Fölster-Holst, Kiel, Germany
- 22. Miikka VikkulaMiikka Vikkula Professor of Human GeneticsProfessor of Human Genetics BrusselsBrussels 2003:2003: A new autosomal dominant phenotypeA new autosomal dominant phenotype „„capillary malformation-arteriovenous malformation“capillary malformation-arteriovenous malformation“ (CM-AVM), being caused by(CM-AVM), being caused by RASA1RASA1 mutationsmutations
- 23. 2003:2003: A new autosomal dominant phenotypeA new autosomal dominant phenotype „„capillary malformation-arteriovenous malformation“capillary malformation-arteriovenous malformation“ (CM-AVM), being caused by(CM-AVM), being caused by RASA1RASA1 mutationsmutations
- 24. Revencu N and 51 coauthors: Hum Mutation 2013 Type 2 segmental manifestation = bias of ascertainment
- 25. Revencu N et al: Hum Mutation 2008Revencu N et al: Hum Mutation 2008 „„Capillary malformation-arteriovenous malformation“:Capillary malformation-arteriovenous malformation“: The arteriovenous malformation is aThe arteriovenous malformation is a type 2 segmental manifestation of the syndrome!type 2 segmental manifestation of the syndrome!
- 26. rhodoidesrhodoides = rose-colored= rose-colored Courtesy ofCourtesy of Dr. Cornelia Seitz,Dr. Cornelia Seitz, Göttingen,GermanyGöttingen,Germany Rhodoid nevusRhodoid nevus (Vikkula nevus)
- 27. Courtesy ofCourtesy of Dr. Cornelia Seitz,Dr. Cornelia Seitz, Göttingen,GermanyGöttingen,Germany Why a new name?
- 28. „„Nomina si nescis, perit et cognitio rerum.“Nomina si nescis, perit et cognitio rerum.“ Carl von LinnéCarl von Linné 1707-17781707-1778 Si no se conocen los nombres, losSi no se conocen los nombres, los conocimientos de estas cosas se pierden.conocimientos de estas cosas se pierden.
- 29. Thanks to Dr. Antonio Torrelo, Madrid The pale halo is very characteristic, but…
- 30. Chee D et al: J Pediatr Surg 2010 …it is not always present!
- 32. Amyere M et al: Circulation 2017
- 34. Conclusion:Conclusion: Rhodoid nevi (Vikkula nevi) occur rather frequently.Rhodoid nevi (Vikkula nevi) occur rather frequently. They are inherited as an autosomal dominant trait.They are inherited as an autosomal dominant trait. An arteriovenous malformation („CM-AVM“)An arteriovenous malformation („CM-AVM“) isis notnot an obligatory criterion.an obligatory criterion. They reflect a mutation inThey reflect a mutation in RASA1 or EPHB4RASA1 or EPHB4..
- 36. Torrelo A et al: J Eur Acad Dermatol Venereol 2006 Del Boz González J et al: An Pediatr (Barc) 2008 Cutis marmorata telangiectatica congenita
- 38. …is a hallmark of congenital livedo reticularis-megalencephaly syndrome („macrocephaly-capillary malformation syndrome“) Congenital livedo reticularis
- 39. Cutis marmorataCutis marmorata telangiectatica congenitatelangiectatica congenita CongenitalCongenital livedo reticularislivedo reticularis The cause is so far unknown PIK3CA Rivière JB et al: Nat Genet 2012
- 40. Congenital livedo reticularis-megalencephaly syndrome MegalencephalyMegalencephaly PolymicrogyriaPolymicrogyria Ventriculomegaly Mirzaa GM et al: Am J Med Genet 2012Mirzaa GM et al: Am J Med Genet 2012 [„Megalencephly-capillary malformation (M-CAP)“]
- 41. Swarr DT et al:Swarr DT et al: Prenatal Diagnosis 2013Prenatal Diagnosis 2013 Congenital livedo reticularis Gonzalez ME et al: Pediatr Dermatol 2009
- 42. Lee MS et al: J Am Acad Dermatol 2013 Congenital livedo reticularis
- 44. Plötz SG et al: Br J Dermatol 1998 Thanks to Dr. Sigrid Tinschert, Berlin, Germany Chen WC et al: Dermatology 2006 Thanks to Dr. Henning Hamm, Würzburg, Germany Port-wine nevus of the Proteus type Port-wine nevus of the CLOVES type Angiokeratoma circumscriptum Segmental angioma serpiginosum Nevus anemicus Nevus vascularis mixtus Thanks to Dr. Helena de las Heras, Madrid, Spain Other capillary nevi
- 46. Capillary nevi in limbo (capillary malformations that probably represent nevi)
- 49. Macrocephaly–Capillary Malformation: Analysis of 13 Patients and Review of the Diagnostic Criteria Víctor Martínez-Glez, Valeria Romanelli, María A. Mori, Ricardo Gracia, Mabel Segovia, Antonio Gonzalez-Meneses, Juan C. Lopez-Gutierrez, Esther Gean, Loreto Martorell, Pablo Lapunzina Am J Med Genet Part A 2010 Midfacial port-wine patch
- 51. Krämer D et al: Int J Dermatol 2016 Midfacial port-wine patch of the CLAPO type
- 52. Am J Med Genet Part A 2008 PIK3CA Rodriguez-Laguna L et al: Genet Med 2018
- 53. Krämer D et al: Int J Dermatol 2016 Midfacial port-wine patch of the CLAPO type
- 54. Genet Med 2018
- 56. Isidor B et al: Am J Med Genet 2011 Carter-Mirzaa macules „„MICCAP“MICCAP“ STAMPBSTAMPB mutationsmutations Grimaldi M et al: Acta Derm Venereol 2006 Unilateral punctate telangiectasia Unilateral nevoid telangiectasia of the patchy type Other capillary nevi in limbo
- 59. Juern AM et al: J Am Acad Dermatol 2010 Salmon patch
- 60. Autosomal dominant angiokeratoma corporis diffusum 5 capillary non-nevi Salmon patch Osler disease Fabry disease Calzavara-Pinton PG et al: Arch Dermatol 1995 Hereditary angioma serpiginosum Marriott PT et al: Br J Dermatol 1975
- 62. • Nevus flammeus • Port-wine nevus of the Proteus type • Port-wine nevus of the CLOVES type • Nevus roseus • Rhodoid nevus (Vikkula nevus) • Cutis marmorata telangiectatica congenita • Congenital livedo reticularis • Segmental angioma serpiginosum • Nevus anemicus • Nevus vascularis mixtus • Angiokeratoma circumscriptum • Midfacial port-wine patch • Midfacial port-wine patch of the CLAPO type • Carter-Mirzaa macule • Unilateral punctate telangiectasia • Unilateral nevoid telangiectasia of the patchy type • Salmon patch • Hereditary hemorrhagic telangiectasia • Fabry disease • Autosomal dominant angiokeratoma corporis diffusum • Hereditary angioma serpiginosum Capillary neviCapillary nevi Capillary neviCapillary nevi in limboin limbo Capillary non-neviCapillary non-nevi 21 different capillary malformations
- 64. Different capillary malformations:Different capillary malformations: Rhodoid nevusRhodoid nevus Nevus vascularis mixtusNevus vascularis mixtus Livedo reticularisLivedo reticularis congenitacongenita Segmental angiomaSegmental angioma serpiginosumserpiginosum Nevus roseusNevus roseusNevus flammeusNevus flammeus Nevus anemicusNevus anemicus AngiokeratomaAngiokeratoma circumscriptumcircumscriptum Cutis marmorataCutis marmorata telangiectatica congenitatelangiectatica congenita „Capillary malformation“ is an asylum ignorantiae Salmon patchSalmon patch Fabry diseaseFabry disease Rendu-Osler diseaseRendu-Osler disease Happle R: J Eur Acad Dermatol Venereol 2015
- 66. Thank you!
- 73. Ruggieri M et al: Am J Med Genet 2012Ruggieri M et al: Am J Med Genet 2012 Nevus vascularis mixtus syndromeNevus vascularis mixtus syndrome
- 74. Nevus vascularis mixtus syndromeNevus vascularis mixtus syndrome Intracerebral vascular malformations Ruggieri M et al: Am J Med Genet 2012Ruggieri M et al: Am J Med Genet 2012