Syndrome mit vaskulären Anomalien der Haut

Zurück zum Zitat Almeida H Jr, Happle R, Reginatto F, Basso F, Duquia R (2011) Phacomatosis melanorosea with heterochromia of scalp hair. Eur J Dermatol 21:598–599PubMed Almeida H Jr, Happle R, Reginatto F, Basso F, Duquia R (2011) Phacomatosis melanorosea with heterochromia of scalp hair. Eur J Dermatol 21:598–599PubMed

Zurück zum Zitat Amyere M, Revencu N, Helaers R, Pairet E, Baselga E, Cordisco M, Chung W, Dubois J, Lacour JP, Martorell L, Mazereeuw-Hautier J, Pyeritz RE, Amor DJ, Bisdorff A, Blei F, Bombei H, Dompmartin A, Brooks D, Dupont J, González-Enseñat MA, Frieden I, Gérard M, Kvarnung M, Hanson-Kahn AK, Hudgins L, Léauté-Labrèze C, McCuaig C, Metry D, Parent P, Paul C, Petit F, Phan A, Quere I, Salhi A, Turner A, Vabres P, Vicente A, Wargon O, Watanabe S, Weibel L, Wilson A, Willing M, Mulliken JB, Boon LM, Vikkula M (2017) Germline loss-of-function mutations in EPHB4 cause a second form of capillary malformation-arteriovenous malformation (CM-AVM2) deregulating RAS-MAPK signaling. Circulation 136:1037–1048CrossRef Amyere M, Revencu N, Helaers R, Pairet E, Baselga E, Cordisco M, Chung W, Dubois J, Lacour JP, Martorell L, Mazereeuw-Hautier J, Pyeritz RE, Amor DJ, Bisdorff A, Blei F, Bombei H, Dompmartin A, Brooks D, Dupont J, González-Enseñat MA, Frieden I, Gérard M, Kvarnung M, Hanson-Kahn AK, Hudgins L, Léauté-Labrèze C, McCuaig C, Metry D, Parent P, Paul C, Petit F, Phan A, Quere I, Salhi A, Turner A, Vabres P, Vicente A, Wargon O, Watanabe S, Weibel L, Wilson A, Willing M, Mulliken JB, Boon LM, Vikkula M (2017) Germline loss-of-function mutations in EPHB4 cause a second form of capillary malformation-arteriovenous malformation (CM-AVM2) deregulating RAS-MAPK signaling. Circulation 136:1037–1048CrossRef

Zurück zum Zitat Cai R, Liu F, Liu Y, Chen H, Lin X (2018) RASA-1 somatic “second hit” mutation in capillary malformation-arteriovenous malformation. J Dermatol 45:1478–1480CrossRef Cai R, Liu F, Liu Y, Chen H, Lin X (2018) RASA-1 somatic “second hit” mutation in capillary malformation-arteriovenous malformation. J Dermatol 45:1478–1480CrossRef

Zurück zum Zitat Doucet ME, Bloomhardt HM, Moroz, Lindhurst MJ, Biesecker LG (2016) Lack of mutation-histopathology correlation in a patient with Proteus syndrome. Am J Med Genet A 170:1422–1432CrossRef Doucet ME, Bloomhardt HM, Moroz, Lindhurst MJ, Biesecker LG (2016) Lack of mutation-histopathology correlation in a patient with Proteus syndrome. Am J Med Genet A 170:1422–1432CrossRef

Zurück zum Zitat Dutkiewicz AS, Ezzedine K, Mazereeuw-Hautier J, Lacour JP, Barbarot S, Vabres P, Miquel J, Balguerie X, Martin L, Boralevi F, Bessou P, Chateil JF, Léauté-Labrèze C, Groupe de Recherche Clinique en Dermatologie Pédiatrique (2015) A prospective study of risk for Sturge-Weber syndrome in children with upper facial port-wine stain. J Am Acad Dermatol 72:473–480CrossRef Dutkiewicz AS, Ezzedine K, Mazereeuw-Hautier J, Lacour JP, Barbarot S, Vabres P, Miquel J, Balguerie X, Martin L, Boralevi F, Bessou P, Chateil JF, Léauté-Labrèze C, Groupe de Recherche Clinique en Dermatologie Pédiatrique (2015) A prospective study of risk for Sturge-Weber syndrome in children with upper facial port-wine stain. J Am Acad Dermatol 72:473–480CrossRef

Zurück zum Zitat Gucev ZS, Tasic V, Jancevska A, Konstantinova MK, Pop-Jordanova N, Trajkovski Z, Biesecker LG (2008) Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome: CNS malformations and seizures may be a component of this disorder. Am J Med Genet A 146A:2688–2690CrossRef Gucev ZS, Tasic V, Jancevska A, Konstantinova MK, Pop-Jordanova N, Trajkovski Z, Biesecker LG (2008) Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome: CNS malformations and seizures may be a component of this disorder. Am J Med Genet A 146A:2688–2690CrossRef

Zurück zum Zitat Hamm H, Happle R (1986) Naevus vascularis mixtus: Bericht über 4 Beobachtungen. Hautarzt 37:388–392PubMed Hamm H, Happle R (1986) Naevus vascularis mixtus: Bericht über 4 Beobachtungen. Hautarzt 37:388–392PubMed

Zurück zum Zitat Happle R (2005) Phacomatosis pigmentovascularis revisited and reclassified. Arch Dermatol 141:385–388CrossRef Happle R (2005) Phacomatosis pigmentovascularis revisited and reclassified. Arch Dermatol 141:385–388CrossRef

Zurück zum Zitat Happle R (2006) Viewpoint 2 in: What is the biological basis of pattern formation in skin lesions? Exp Dermatol 15:553–557CrossRef Happle R (2006) Viewpoint 2 in: What is the biological basis of pattern formation in skin lesions? Exp Dermatol 15:553–557CrossRef

Zurück zum Zitat Happle R (2010) The rhodoid nevus: a proposed term for a so far unnamed capillary malformation. Dermatology 221:317–319CrossRef Happle R (2010) The rhodoid nevus: a proposed term for a so far unnamed capillary malformation. Dermatology 221:317–319CrossRef

Zurück zum Zitat Happle R (2014) Mosaicism in human skin: understanding nevi, nevoid skin disorders, and cutaneous neoplasia. Springer, Berlin, S 216–218CrossRef Happle R (2014) Mosaicism in human skin: understanding nevi, nevoid skin disorders, and cutaneous neoplasia. Springer, Berlin, S 216–218CrossRef

Zurück zum Zitat Happle R (2015) Capillary malformations: a classification using specific names for specific skin disorders. J Eur Acad Dermatol Venereol 29:2295–2305CrossRef Happle R (2015) Capillary malformations: a classification using specific names for specific skin disorders. J Eur Acad Dermatol Venereol 29:2295–2305CrossRef

Zurück zum Zitat Jordaan HF, Happle R (2008) Phacomatosis spilorosea associated with lymphoedema. Br J Dermatol 159:489–491CrossRef Jordaan HF, Happle R (2008) Phacomatosis spilorosea associated with lymphoedema. Br J Dermatol 159:489–491CrossRef

Zurück zum Zitat Keppler-Noreuil KM, Rios JJ, Parker VE, Semple RK, Lindhurst MJ, Sapp JC, Alomari A, Ezaki M, Dobyns W, Biesecker LG (2015) PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. Am J Med Genet A 167A:287–295CrossRef Keppler-Noreuil KM, Rios JJ, Parker VE, Semple RK, Lindhurst MJ, Sapp JC, Alomari A, Ezaki M, Dobyns W, Biesecker LG (2015) PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. Am J Med Genet A 167A:287–295CrossRef

Zurück zum Zitat Larralde M, Abad ME, Luna PC, Hoffner MV (2014) Capillary malformation-arteriovenous malformation: a clinical review of 45 patients. Int J Dermatol 53:458–461CrossRef Larralde M, Abad ME, Luna PC, Hoffner MV (2014) Capillary malformation-arteriovenous malformation: a clinical review of 45 patients. Int J Dermatol 53:458–461CrossRef

Zurück zum Zitat Lederer D, Rack K, Boulanger S, Battisti O, Verellen-Dumoulin C (2012) Discordant monozygotic twins for macrocephaly-capillary malformation. Am J Med Genet A 158A:1509–1511CrossRef Lederer D, Rack K, Boulanger S, Battisti O, Verellen-Dumoulin C (2012) Discordant monozygotic twins for macrocephaly-capillary malformation. Am J Med Genet A 158A:1509–1511CrossRef

Zurück zum Zitat Lindhurst MJ, Wang JA, Bloomhardt HM, Witkowski AM, Singh LN, Bick DP, Gambello MJ, Powell CM, Lee CR, Darling TN, Biesecker LG (2014) AKT1 gene mutation levels are correlated with the type of dermatologic lesions in patients with Proteus syndrome. J Invest Dermatol 134:543–546CrossRef Lindhurst MJ, Wang JA, Bloomhardt HM, Witkowski AM, Singh LN, Bick DP, Gambello MJ, Powell CM, Lee CR, Darling TN, Biesecker LG (2014) AKT1 gene mutation levels are correlated with the type of dermatologic lesions in patients with Proteus syndrome. J Invest Dermatol 134:543–546CrossRef

Zurück zum Zitat Marque M, Roubertie A, Jaussent A, Carneiro M, Meunier L, Guillot B, Pinson L, Pinson S, Bessis D (2013) Nevus anemicus in neurofibromatosis type 1: a potential new diagnostic criterion. J Am Acad Dermatol 69:768–775CrossRef Marque M, Roubertie A, Jaussent A, Carneiro M, Meunier L, Guillot B, Pinson L, Pinson S, Bessis D (2013) Nevus anemicus in neurofibromatosis type 1: a potential new diagnostic criterion. J Am Acad Dermatol 69:768–775CrossRef

Zurück zum Zitat Martinez-Lopez A, Blasco-Morente G, Perez-Lopez I, Herrera-Garcia JD, Luque-Valenzuela M, Sanchez-Cano D, Lopez-Gutierrez JC, Ruiz-Villaverde R, Tercedor-Sanchez J (2017) CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS). Clin Genet 91:14–21CrossRef Martinez-Lopez A, Blasco-Morente G, Perez-Lopez I, Herrera-Garcia JD, Luque-Valenzuela M, Sanchez-Cano D, Lopez-Gutierrez JC, Ruiz-Villaverde R, Tercedor-Sanchez J (2017) CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS). Clin Genet 91:14–21CrossRef

Zurück zum Zitat Mirzaa GM, Paciorkowski AR, Smyser CD, Willing MC, Lind AC, Dobyns WB (2011) The microcephaly-capillary malformation syndrome. Am J Med Genet A 155A:2080–2087CrossRef Mirzaa GM, Paciorkowski AR, Smyser CD, Willing MC, Lind AC, Dobyns WB (2011) The microcephaly-capillary malformation syndrome. Am J Med Genet A 155A:2080–2087CrossRef

Zurück zum Zitat Naegeli O (1915) Naevi anaemici und Recklinghausensche Krankheit. Arch Dermatol Syph (Wien) 121:742–745CrossRef Naegeli O (1915) Naevi anaemici und Recklinghausensche Krankheit. Arch Dermatol Syph (Wien) 121:742–745CrossRef

Zurück zum Zitat Panzer R, Happle R, Fölster-Holst R (2017) Rhodoid naevus syndrome: why is this name preferable to ‘capillary malformation-arteriovenous malformation’? J Eur Acad Dermatol Venereol 31:e446–e448CrossRef Panzer R, Happle R, Fölster-Holst R (2017) Rhodoid naevus syndrome: why is this name preferable to ‘capillary malformation-arteriovenous malformation’? J Eur Acad Dermatol Venereol 31:e446–e448CrossRef

Zurück zum Zitat Revencu N, Boon LM, Mendola A, Cordisco MR, Dubois J, Clapuyt P, Hammer F, Amor DJ, Irvine AD, Baselga E, Dompmartin A, Syed S, Martin-Santiago A, Ades L, Collins F, Smith J, Sandaradura S, Barrio VR, Burrows PE, Blei F, Cozzolino M, Brunetti-Pierri N, Vicente A, Abramowicz M, Désir J, Vilain C, Chung WK, Wilson A, Gardiner CA, Dwight Y, Lord DJ, Fishman L, Cytrynbaum C, Chamlin S, Ghali F, Gilaberte Y, Joss S, Boente Mdel C, Léauté-Labrèze C, Delrue MA, Bayliss S, Martorell L, González-Enseñat MA, Mazereeuw-Hautier J, O’Donnell B, Bessis D, Pyeritz RE, Salhi A, Tan OT, Wargon O, Mulliken JB, Vikkula M (2013) RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. Hum Mutat 34:1632–1641CrossRef Revencu N, Boon LM, Mendola A, Cordisco MR, Dubois J, Clapuyt P, Hammer F, Amor DJ, Irvine AD, Baselga E, Dompmartin A, Syed S, Martin-Santiago A, Ades L, Collins F, Smith J, Sandaradura S, Barrio VR, Burrows PE, Blei F, Cozzolino M, Brunetti-Pierri N, Vicente A, Abramowicz M, Désir J, Vilain C, Chung WK, Wilson A, Gardiner CA, Dwight Y, Lord DJ, Fishman L, Cytrynbaum C, Chamlin S, Ghali F, Gilaberte Y, Joss S, Boente Mdel C, Léauté-Labrèze C, Delrue MA, Bayliss S, Martorell L, González-Enseñat MA, Mazereeuw-Hautier J, O’Donnell B, Bessis D, Pyeritz RE, Salhi A, Tan OT, Wargon O, Mulliken JB, Vikkula M (2013) RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. Hum Mutat 34:1632–1641CrossRef

Zurück zum Zitat Ruggieri M, Milone P, Pavone P, Falsaperla R, Polizzi A, Caltabiano R, Fichera M, Gabriele AL, Distefano A, De Pasquale R, Salpietro V, Micali G, Pavone L (2012) Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients. Am J Med Genet A 158A:2870–2880CrossRef Ruggieri M, Milone P, Pavone P, Falsaperla R, Polizzi A, Caltabiano R, Fichera M, Gabriele AL, Distefano A, De Pasquale R, Salpietro V, Micali G, Pavone L (2012) Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients. Am J Med Genet A 158A:2870–2880CrossRef

Zurück zum Zitat Sudarsanam A, Ardern-Holmes SL (2014) Sturge-Weber syndrome: from the past to the present. Eur J Paediatr Neurol 18:257–266CrossRef Sudarsanam A, Ardern-Holmes SL (2014) Sturge-Weber syndrome: from the past to the present. Eur J Paediatr Neurol 18:257–266CrossRef

Zurück zum Zitat Tekin B, Yucelten D, Happle R (2016) Phacomatosis melanorosea: a further case of an unusual skin disorder. Acta Derm Venereol 96:280–282CrossRef Tekin B, Yucelten D, Happle R (2016) Phacomatosis melanorosea: a further case of an unusual skin disorder. Acta Derm Venereol 96:280–282CrossRef

Zurück zum Zitat Thomas AC, Zeng Z, Rivière JB, O’Shaughnessy R, Al-Olabi L, St-Onge J, Atherton DJ, Aubert H, Bagazgoitia L, Barbarot S, Bourrat E, Chiaverini C, Chong WK, Duffourd Y, Glover M, Groesser L, Hadj-Rabia S, Hamm H, Happle R, Mushtaq I, Lacour JP, Waelchli R, Wobser M, Vabres P, Patton EE, Kinsler VA (2016) Mosaic activating mutations in GNA11 and GNAQ are associated with phakomatosis pigmentovascularis and extensive dermal melanocytosis. J Invest Dermatol 136:770–778CrossRef Thomas AC, Zeng Z, Rivière JB, O’Shaughnessy R, Al-Olabi L, St-Onge J, Atherton DJ, Aubert H, Bagazgoitia L, Barbarot S, Bourrat E, Chiaverini C, Chong WK, Duffourd Y, Glover M, Groesser L, Hadj-Rabia S, Hamm H, Happle R, Mushtaq I, Lacour JP, Waelchli R, Wobser M, Vabres P, Patton EE, Kinsler VA (2016) Mosaic activating mutations in GNA11 and GNAQ are associated with phakomatosis pigmentovascularis and extensive dermal melanocytosis. J Invest Dermatol 136:770–778CrossRef

Zurück zum Zitat Torrelo A, Zambrano A, Happle R (2006) Large aberrant Mongolian spots coexisting with cutis marmorata telangiectatica congenita (phacomatosis pigmentovascularis type V or phacomatosis cesiomarmorata). J Eur Acad Dermatol Venereol 20:308–310CrossRef Torrelo A, Zambrano A, Happle R (2006) Large aberrant Mongolian spots coexisting with cutis marmorata telangiectatica congenita (phacomatosis pigmentovascularis type V or phacomatosis cesiomarmorata). J Eur Acad Dermatol Venereol 20:308–310CrossRef

Zurück zum Zitat Verma SB, Desai HK, Shah VN, Happle R (2017) Phacomatosis cesioflammea with cutis marmorata-like lesions and unusual extracutaneous abnormalities: is it a distinct disorder? Indian J Dermatol 62:207–209CrossRef Verma SB, Desai HK, Shah VN, Happle R (2017) Phacomatosis cesioflammea with cutis marmorata-like lesions and unusual extracutaneous abnormalities: is it a distinct disorder? Indian J Dermatol 62:207–209CrossRef

Zurück zum Zitat Yeung KS, Ip JJ, Chow CP, Kuong EY, Tam PK, Chan GC, Chung BH (2017) Somatic PIK3CA mutations in seven patients with PIK3CA-related overgrowth spectrum. Am J Med Genet A 173:978–984CrossRef Yeung KS, Ip JJ, Chow CP, Kuong EY, Tam PK, Chan GC, Chung BH (2017) Somatic PIK3CA mutations in seven patients with PIK3CA-related overgrowth spectrum. Am J Med Genet A 173:978–984CrossRef