Skin abnormalities in individuals with macrocephaly: Cowden disease from a dermatologist's point of view

International Journal of Dermatology

Volumn 47, Issue SUPPL. 1, 2008, Pages 45-48

  van der Velden, Jaap J A J ^a   Vreeburg, Maaike ^a   Smeets, Eric E J ^a   Schrander Stumpel, Constance T R M ^a   van Steensel, Maurice A M ^a  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE;

ADULT; ANAMNESIS; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONFERENCE PAPER; COWDEN SYNDROME; DERMATOLOGY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GYNECOMASTIA; HAMARTOMA; HISTOPATHOLOGY; HUMAN; KERATOSIS; KIDNEY CANCER; MACROCEPHALY; MALE; MEDICAL SPECIALIST; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; OVARY CYST; PAPILLOMATOSIS; SKIN BIOPSY; SKIN DISEASE; THYROID CANCER; TONGUE DISEASE;

ADULT; BRAIN NEOPLASMS; DIAGNOSIS, DIFFERENTIAL; FEMALE; GANGLIONEUROMA; HAMARTOMA SYNDROME, MULTIPLE; HEAD; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; PAPILLOMA; PTEN PHOSPHOHYDROLASE; SKIN ABNORMALITIES; TONGUE NEOPLASMS;

EID: 56049086623     PISSN: 00119059     EISSN: 13654632     Source Type: Journal    
DOI: 10.1111/j.1365-4632.2008.03960.x     Document Type: Conference Paper

References (21)

1. Starink TM, van der Veen JP, Arwert F, et al. The Cowden syndrome: A clinical and genetic study in 21 patients. Clin Genet 1986; 29: 222-233.
2. Nelen MR, van Staveren CG, Peeters EAJ, et al. Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. Hum Mol Genet 1997; 6: 1383-1387.
3. Nelen MR, Kremer H, Konings IBM, et al. Novel PTEN mutations in patients with Cowden disease: Absence of clear genotype-phenotype correlations. Eur J Hum Genet 1999; 7: 267-273.
4. Marsh DJ, Coulon V, Lunetta KL, et al. Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. Hum Mol Genet 1998; 7: 507-515.
5. Zhou XP, Waite KA, Pilarski R, et al. Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/ Akt pathway. Am J Hum Genet 2003b; 73: 404-411.
6. Eng C. Will the real Cowden syndrome please stand up: Revised diagnostic criteria. J Med Genet 2000; 37: 828-830.
7. Marsh DJ, Kum JB, Lunetta KL, et al. PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Molec Genet 1999; 8: 1461-1472.
8. Butler MG, Dasouki MJ, Zhou XP, et al. Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. J Med Genet 2005; 42: 318-321.
9. Goffin A, Hoefsloot LH, Bosgoed E, et al. PTEN mutation in a family with Cowden syndrome and autism. Am J Med Genet 2001; 105: 521-524.
10. 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
11. Schepis C, Greco D, Siragusa M, et al. Cerebriform plantar hyperplasia: the major cutaneous feature of Proteus syndrome. Int J Dermatol 2008; 47: 374-376.
12. Farajzadeh S, Zahedi MJ, Moghaddam SD. A new gastrointestinal finding in Proteus syndrome: Report of a case of multiple colonic hemangiomas. Int J Dermatol 2006; 45: 135-138.
13. Beighton P, de Paepe A, Danks D, et al. International Nosology of Heritable Disorders of Connective Tissue, Berlin, 1986. Am J Med Genet 1988; 29: 581-594.
14. Lloyd KM, Dennis M. Cowden's disease: A possible new symptom complex with multiple system involvement. Ann Intern Med 1963; 58: 136-142.
15. Brownstein MH, Mehregan AH, Bikowski JB. Trichilemmomas in Cowden's disease. (Letter) JAMA 1977; 238: 26.
16. Hanssen AMN, Fryns JP. Cowden syndrome. J Med Genet 1995; 32: 117-119.
17. Liaw D, Marsh DJ, Li J, et al. Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat Genet 1997; 16: 64-67.
18. Schrager CA, Schneider D, Gruener AC, et al. Clinical and pathological features of breast disease in Cowden's syndrome: An underrecognized syndrome with an increased risk of breast cancer. Hum Pathol 1998; 29: 47-53.
19. Tan WH, Baris HN, Burrows PE, et al. The spectrum of vascular anomalies in patients with PTEN mutations: Implications for diagnosis and management. J Med Genet 2007; 44: 594-602.
20. Bilbao C, Rodriguez G, Ramirez R, et al. The relationship between microsatellite instability and PTEN gene mutations in endometrial cancer. Int J Cancer 2006; 119: 563-570.
21. National Comprehensive Cancer Network. Guidelines for the detection, prevention and risk of cancer, genetics/familial high risk assessment - Cowden syndrome. http://www.nccn.org/professionals/physician_gls/PDF/ genetics_screening.pdf (Accessed 12 July 2008).