Porokeratotic eccrine nevus may be caused by somatic connexin26 mutations

Journal of Investigative Dermatology

Volumn 132, Issue 9, 2012, Pages 2184-2191

  Easton, Jennifer A ^a,b   Donnelly, Steven ^c   Kamps, Miriam A F ^a,b   Steijlen, Peter M ^a,b   Martin, Patricia E ^c   Tadini, Gianluca ^d   Janssens, René ^e   Happle, Rudolf ^f   Van Geel, Michel ^a,b   Van Steensel, Maurice A M ^a,b  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^b MAASTRICHT UNIVERSITY   (Netherlands)

^c GLASGOW CALEDONIAN UNIVERSITY   (United Kingdom)

^d UNIVERSITY OF MILAN   (Italy)

^e JEROEN BOSCH HOSPITAL   (Netherlands)

^f UNIVERSITY OF FREIBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 26;

AMINO ACID SUBSTITUTION; ARTICLE; CELL MEMBRANE; CONTROLLED STUDY; GENE; GENE SEQUENCE; GJB2 GENE; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERKERATOSIS; IMMUNOHISTOCHEMISTRY; MOSAICISM; MUTATIONAL ANALYSIS; NEVUS; PATHOGENESIS; PHENOTYPE; POROKERATOTIC ECCRINE NEVUS; PRIORITY JOURNAL; PROTEIN EXPRESSION; SKIN BIOPSY; SOMATIC MUTATION;

EID: 84865345872     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2012.143     Document Type: Article

References (30)

1. Abell E, Read SI (1980) Porokeratotic eccrine ostial and dermal duct naevus. Br J Dermatol 103:435-41
2. Aloi FG, Pippione M (1986) Porokeratotic eccrine ostial and dermal duct nevus. Arch Dermatol 122:892-5
3. Arita K, Akiyama M, Aizawa T et al. (2006) A novel N14Y mutation in Connexin26 in keratitis-ichthyosis-deafness syndrome: analyses of altered gap junctional communication and molecular structure of N terminus of mutated Connexin26. Am J Pathol 169:416-23
4. Bakirtzis G, Choudhry R, Aasen T et al. (2003) Targeted epidermal expression of mutant Connexin 26(D66H) mimics true Vohwinkel syndrome and provides a model for the pathogenesis of dominant connexin disorders. Hum Mol Genet 12:1737-44
5. Cambiaghi S, Gianotti R, Caputo R (2007) Widespread porokeratotic eccrine ostial and dermal duct nevus along Blaschko lines. Pediatr Dermatol 24:162-7
6. Cobb MW, Vidmar DA, Dilaimy MS (1990) Porokeratotic eccrine ostial and dermal duct nevus: a case of systematized involvement. Cutis 46: 495-7
7. Criscione V, Lachiewicz A, Robinson-Bostom L et al. (2010) Porokeratotic eccrine duct and hair follicle nevus (PEHFN) associated with keratitisichthyosis- deafness (KID) syndrome. Pediatr Dermatol 27:514-7
8. de Zwart-Storm EA, Hamm H, Stoevesandt J et al. (2007) A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness. J Med Genet 45:161-6
9. de Zwart-Storm EA, Martin PE, Van Steensel MAM (2009) Gap junction diseases of the skin: novel insights from new mutations. Expert Rev Dermatol 4:455-68
10. de Zwart-Storm EA, Rosa RF, Martin PE et al. (2011) Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypes. Exp Dermatol 20:408-12
11. de Zwart-Storm EA, van Geel M, van Neer PA et al. (2008) A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness. Am J Pathol 173:1113-9
12. Dürig J, Rosenthal C, Halfmeyer K et al. (2000) Intercellular communication between bone marrow stromal cells and CD34+ haematopoietic progenitor cells is mediated by connexin 43-type gap junctions. Br J Haematol 111:416-25
13. Easton JA, Petersen JS, Martin PE (2009) The anti-arrhythmic peptide AAP10 remodels C×43 and C×40 expression and function. Naunyn Schmiedebergs Arch Pharmacol 380(1):11-24
14. Goddard DS, Rogers M, Frieden IJ et al. (2009) Widespread porokeratotic adnexal ostial nevus: clinical features and proposal of a new name unifying porokeratotic eccrine ostial and dermal duct nevus and porokeratotic eccrine and hair follicle nevus. J Am Acad Dermatol 61:1060 e1-4
15. Happle R, Rogers M (2002) Epidermal nevi. Adv Dermatol 18:175-201
16. Jan AY, Amin S, Ratajczak P et al. (2004) Genetic heterogeneity of KID syndrome: identification of a C×30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia. J Invest Dermatol 122: 1108-13
17. Kroumpouzos G, Stefanato CM, Wilkel CS et al. (1999) Systematized porokeratotic eccrine and hair follicle naevus: report of a case and review of the literature. Br J Dermatol 141:1092-6
18. Lazic T, Li Q, Frank M et al. (2011) Extending the phenotypic spectrum of keratitis-ichthyosis-deafness syndrome: report of a patient with GJB2 (G12R) connexin 26 mutation and unusual clinical findings. Pediatr Dermatol; e-pub ahead of print 20 October 2011
19. Lee JR, Derosa AM, White TW (2009) Connexin mutations causing skin disease and deafness increase hemichannel activity and cell death when expressed in Xenopus oocytes. J Invest Dermatol 129:870-8
20. Leybaert L, Braet K, Vandamme W et al. (2003) Connexin channels, connexin mimetic peptides and ATP release. Cell Commun Adhes 10: 251-7
21. Marziano NK, Casalotti SO, Portelli AE et al. (2003) Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30. Hum Mol Genet 12:805-12
22. Richard G, Rouan F, Willoughby CE et al. (2002) Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis- deafness syndrome. Am J Hum Genet 70(5):1341-8
23. Rouan F, White TW, Brown N et al. (2001) Trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation. J Cell Sci 114: 2105-13
24. Rudkin GH, Carlsen BT, Chung CY et al. (2002) Retinoids inhibit squamous cell carcinoma growth and intercellular communication. J Surg Res 103:183-9
25. Sassmannshausen J, Bogomilsky J, Chaffins M (2000) Porokeratotic eccrine ostial and dermal duct nevus: a case report and review of the literature. J Am Acad Dermatol 43:364-7
26. Titeux M, Mendonca V, Decha A et al. (2009) Keratitis-ichthyosis-deafness syndrome caused by GJB2 maternal mosaicism. J Invest Dermatol 129:776-9
27. van Steensel M, van Geel M, Nahuys M et al. (2002) A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome. J Invest Dermatol 118:724-7
28. Wright CS, Pollok S, Flint DJ et al. (2012) The connexin mimetic peptide Gap27 increases human dermal fibroblast migration in hyperglycemic and hyperinsulinemic conditions in vitro. J Cell Physiol 227:77-87
29. Wu BL, Lindeman N, Lip V et al. (2002) Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing. Genet Med 4:279-88
30. Ziambaras K, Lecanda F, Steinberg TH et al. (1998) Cyclic stretch enhances gap junctional communication between osteoblastic cells. J Bone Miner Res 13:218-28