Empfohlene Literatur (Syndrome)


Nathan N, Keppler-Noreuil KM, Biesecker LG, Moss J, Darling TN. Mosaic disorders of the PI3K/PTEN/AKT/TSC/mTORC1 signaling pathway. Dermatol Clin. 2017;35(1):51-60.

Wiedemanns Atlas klinischer Syndrome. Phänomenologie - Ätiologie - Differenzialdiagnose. 7. Auflage. Herausgeber: Sigrid Tinschert und Jürgen Kunze. Schattauer/Thieme-Verlag, im Druck.

Oduber C EU et al. The persistent embryonic vein in Klippel-Trenaunay syndrome. Vas Med 2013; 18: 185-91.

Luks VL et al., Lymphatic and Other Vascular Malformative/Overgrowth Disorders Are Caused by Somatic Mutations in PIK3CA. J Pediatr 2015; 166: 1048-54.

Zhang T et al. Haploinsufficiency of Klippel-Trenaunay syndrome gene Aggf1 inhibits developmental and pathological angiogenesis by inactivating PI3K and AKT and disrupts vascular integrity by activating VE-cadherin. Hum Mol Genet 2016; 25(23): 5094-110.

Shirley MD, et al. Sturge-Weber syndrome and port-wine stains caused by somatic mutation in

GNAQ. N Engl J Med. 2013;368(21):1971-1979.

Sudarsanam A, Ardern-Holmes SL. Sturge-Weber syndrome: from the past to the present. Eur J Paediatr Neurol 2014; 18 (3): 257-66.

Pinto A et al. Epileptogenesis in neurocutaneous disorders with focus in Sturge Weber syndrome. F1000Res 2016; 5.

Happle R. The rhodoid nevus: a proposed term for a so far unnamed capillary malformation. Dermatology 2010; 221: 317- 9.

Revencu N. RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. Hum Mutat 2013; 34: 1632-41.

Bayrak-Toydemir P, Stevenson D. RASA1-Related Disorders. 2011 Feb 22 [Updated 2016 Oct 6]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK52764/

Lee MS, Liang MG, Mulliken JB. Diffuse capillary malformation with overgrowth: a clinical subtype of vascular anomalies with hypertrophy. J Am Acad Dermatol. 2013; 69: 589-594. PMID: 23906555.

Couto JA et al. A somatic GNA11 mutation is associated with extremity capillary malformation and overgrowth. Angiogenesis (2017) 20:303-306.

Wright DR, Frieden IJ, Orlow SJ, Shin HT, Chamlin S, Schaffer JV, et al. The misnomer ??macrocephaly-cutis marmorata telangiectatica congenita syndrome??: report of 12 new cases and support for revising the name to macrocephaly-capillary malformations. Arch Dermatol 2009;145: 287-93.

Mirzaa GM et al. Megalencephaly syndromes and activating mutations in PI3K-AKT pathway. Am J Med Genet 2013; 163: 122-30

Turner JT et al. Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases. Am J Med Genet 2004; 130A: 111-22.

Biesecker LG. The challenges of Proteus syndrome: diagnosis and management. Eur J Hum Genet 2006; 14: 1151-7.

Lindhurst MJ, et al. A mosaic activating mutation in AKT1 associated with the Proteus syndrome.

N Engl J Med. 2011;365(7): 611-619.

Biesecker LG, Sapp JC Proteus syndrome 2012 Aug 09. [Updated 2018 Jan 4. In: Pagon RA et al. eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993- 2018.

Alomari AI. 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. 2009; 18:1-7.

Kurek KC, Luks VL, Ayturk UM, Alomari AI, Fishman SJ, Spencer SA, Mulliken JB, Bowen ME, Yamamoto GL, Kozakewich HP, Warman ML. Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. Am J Hum Genet. 2012; 90:1108-1115. [PubMed: 22658544]

Biesecker LG, Sapp JC. Proteus Syndrome. 2012 Aug 9 [Updated 2018 Jan 4]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.

Lachlan KL et al. Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance. J Med Genet 2007; 44: 579-85.

Happle R. Type 2 segmental Cowden disease vs. Proteus syndrome. Br J Dermatol 2007; 156 (5):1089-90.

Pilarski R et al. Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. J Natl Cancer Inst 2013; 105: 1607-16.

Pansuriya TC et al, Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. Nature Genet 2011; 43: 1256-61.

Superti-Furga A et al. Enchondromatosis revisited: new classification with molecular basis. Am J Med Genet C Semin Med Genet 2012; 160C(3): 154-64.