The manifold faces of proteus syndrome

Archives of Dermatology

Volumn 140, Issue 8, 2004, Pages 1001-1002

  Happle, Rudolf ^a  

^a PHILIPPS UNIVERSITY MARBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE;

EDITORIAL; GENE MUTATION; HUMAN; LIPOMA; MOSAICISM; MULTIPLE CANCER; NEVUS; PRIORITY JOURNAL; SOMATIC MUTATION; TELANGIECTASIA;

GENETIC PREDISPOSITION TO DISEASE; HUMANS; PATIENT CARE TEAM; PROTEUS SYNDROME;

EID: 4043087892     PISSN: 0003987X     EISSN: None     Source Type: Journal    
DOI: 10.1001/archderm.140.8.1001     Document Type: Editorial

References (17)

1. Nguyen D, Turner JT, Olsen C, Biesecker LG, Darling TN. Cutaneous manifestations of Proteus syndrome: correlations with general clinical severity. Arch Dermatol. 2004;140:947-953.
2. Biesecker LG, Happle R, Mulliken JB, et al. Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation. Am J Med Genet. 1999;84:389-395.
3. Mulliken JB, Glowacki J. Classification of pediatric vascular lesions. Plast Reconstr Surg. 1982;70:120-121.
4. Fishman SJ, Mulliken JB. Vascular anomalies: a primer for pediatricians. Pediatr Clin North Am. 1998;45:1455-1477.
5. Happle R, Lipomatosis and partial lipohypoplasia in Proteus syndrome: a clinical clue for twin spotting? Am J Med Genet. 1995;56:332-333.
6. Happle R, Steijlen PM, Theile U, et al. Patchy dermal hypoplasia as a characteristic feature of Proteus syndrome. Arch Dermatol. 1997;133:77-80.
7. Happle R. Elattoproteus syndrome: delineation of an inverse form of Proteus syndrome. Am J Med Genet. 1999;84:25-28.
8. Zhou XP, Marsh DJ, Hampel H, Mulliken JB, Gimm O, Eng C. Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemi-hypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis. Hum Mol Genet. 2000;9:765-768.
9. Zhou X, Hampel H, Thiele H, et al. Association of germline mutation in the PTEN tumor suppressor gene and Proteus and Proteus-like syndromes. Lancet. 2001;358:210-211.
10. Smith JM, Kirk EP, Theodosopoulos G, et al. Germline mutation of the tumour suppressor PTEN in Proteus syndrome. J Med Genet. 2002;39:937-940.
11. Waite KG, Eng C. Protean PTEN: form and function. Am J Hum Genet. 2002;70:829-844.
12. Eng C. PTEN: one gene, many syndromes. Hum Mutat. 2003;22:183-198.
13. Happle R, Rogers M. Epidermal nevi. Adv Dermatol. 2002;18:175-201.
14. Happle R, König A. Cutaneous mosaicism. In: Schachner LA, Hansen RC, Happle R, et al, eds. Pediatric Dermatology. 3rd ed. Edinburgh, Scotland: Mosby; 2003:368-376.
15. Biesecker LG, Rosenberg MJ, Vacha S, Turner JT, Cohen MM. PTEN mutations and Proteus syndrome. Lancet. 2001;358:2079-2080.
16. Barker K, Martinez A, Wang R, et al. PTEN mutations are uncommon in Proteus syndrome. J Med Genet. 2001;38:480-481.
17. Cohen MM Jr, Turner JT, Biesecker LG. Proteus syndrome: misdiagnosis with PTEN mutations. Am J Med Genet. 2003;122A:323-324.