Clinical and molecular aspects of Kindler syndrome

Giornale Italiano di Dermatologia e Venereologia

Volumn 140, Issue 5, 2005, Pages 531-538

  Lai Cheong, J E ^a   Wessagowit, V ^a   Fassihi, H ^a   McGrath, J A ^a  

^a ST THOMAS HOSPITAL   (United Kingdom)

Author keywords

Actins; Blister; Cell adhesion; Cytoskeletal proteins; Integrins; Keratinocytes; Poikiloderma congenitale; Skin diseases, genetics

Indexed keywords

BLISTER; CLINICAL FEATURE; EPIDERMOLYSIS BULLOSA; FRAMESHIFT MUTATION; GENE IDENTIFICATION; GENE MUTATION; GENODERMATOSIS; HUMAN; IMMUNOFLUORESCENCE MICROSCOPY; KINDLER SYNDROME; MICROSCOPY; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PATHOLOGY; POIKILODERMA; PROTEIN DOMAIN; PROTEIN EXPRESSION; REVIEW; SEQUENCE HOMOLOGY; SKIN BIOPSY; TRANSMISSION ELECTRON MICROSCOPY;

EID: 33745377410     PISSN: 03920488     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (33)

1. Kindler T. Congenital poikiloderma with traumatic bulla formation and progressive cutaneous atrophy. Br J Dermatol 1954;66:104-11.
2. Weary PE, Manley WF Jr, Graham GF. Hereditary acrokeratotic poikiloderma. Arch Dermatol 1971;103:409-22.
3. Larregue M, Prigent F, Lorette G, Canuel C, Ramdenee P. [Bullous and hereditary Weary-Kindler's acrokeratotic poikiloderma]. Ann Dermatol Venereol 1981;108:69-76. French.
4. Hacham-Zadeh S, Garfunkel AA. Kindler syndrome in two related Kurdish families. Am J Med Genet 1985;20:43-8.
5. Ashton GH. Kindler syndrome. Clin Exp Dermatol 2004;29:116-21.
6. Shimizu H, Sato M, Ban M, Kitajima Y, Ishizaki S, Harada T et al Immunohistochemical, ultrastructural, and molecular features of Kindler syndrome distinguish it from dystrophic epidermolysis bullosa. Arch Dermatol 1997;133:1111-7.
7. Yasukawa K, Sato-Matsumura KC, McMillan J, Tsuchiya K, Shimizu H. Exclusion of COL7A1 mutation in Kindler syndrome. J Am Acad Dermatol 2002;46:447-50.
8. Uttam J, Hutton E, Coulombe PA, Anton-Lamprecht I, Yu QC, Gedde-Dahl T Jr et al. The genetic basis of epidermolysis bullosa simplex with mottled pigmentation. Proc Natl Acad Sci U S A 1996;93:9079-84.
9. Penagos H, Jaen M, Sancho MT, Saborio MR, Fallas VG, Siegel DH et al. Kindler syndrome in native Americans from Panama: report of 26 cases. Arch Dermatol 2004;140:939-44.
10. Forman AB, Prendiville JS, Esterly NB, Hebert AA, Duvic M, Horiguchi Y et al. Kindler syndrome: report of two cases and review of the literature. Pediatr Dermatol 1989;6:91-101.
11. Wiebe CB, Silver JG, Larjava HS. Early-onset periodontitis associated with Weary-Kindler syndrome: a case report. J Periodontol 1996;67:1004-10.
12. Wiebe CB, Penagos H, Luong N, Slots J, Epstein E Jr, Siegel D et al. Clinical and microbiologic study of periodontitis associated with Kindler syndrome. J Periodontol 2003;74:25-31.
13. Witt PD, Cheng CJ, Mallory SB, Lind AC. Surgical treatment of pseudosyndactyly of the hand in epidermolysis bullosa: histological analysis of an acellular allograft dermal matrix. Ann Plast Surg 1999;43:379-85.
14. Lotem M, Raben M, Zeltser R, Landau M, Sela M, Wygoda M et al. Kindler syndrome complicated by squamous cell carcinoma of the hard palate: successful treatment with high-dose radiation therapy and granulocyte-macrophage colony-stimulating factor. Br J Dermatol 2001;144:1284-6.
15. Ashton GH, McLean WH, South AP, Oyama N, Smith FJ, Al-Suwaid R et al. Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome. J Invest Dermatol 2004;122:78-83.
16. Hovnanian A, Blanchet-Bardon C, de Prost Y. Poikiloderma of Theresa Kindler: report of a case with ultrastructural study, and review of the literature. Pediatr Dermatol 1989;6:82-90.
17. Patrizi A, Pauluzzi P, Neri I, Trevisan G, De Giorgi LB, Pasquinelli G. Kindler syndrome: report of a case with ultrastructural study and review of the literature. Pediatr Dermatol 1996;13:397-402.
18. Jobard F, Bouadjar B, Caux F, Hadj-Rabia S, Has C, Matsuda F et al. Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome. Hum Mol Genet 2003;12:925-35.
19. Siegel DH, Ashton GH, Penagos HG, Lee JV, Feiler HS, Wilhelmsen KC et al. Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. Am J Hum Genet 2003;73:174-87.
20. Has C, Bruckner-Tuderman L. A novel nonsense mutation in Kindler syndrome. J Invest Dermatol 2004;122:84-6.
21. Sethuraman G, Fassihi H, Ashton GHS, Bansal A, Kabra M, Sharma, VK et al. An Indian child with Kindler syndrome resulting from a new homozygous nonsense mutation (C468X) in the KIND1 gene. Clin Exp Dermatol 2005;30:286-8.
22. Cooper DN, Krawczak M. Human Gene Mutation. Oxford: BIOS Scientific Publishers Ltd; 1993.
23. Rogalski TM, Mullen GP, Gilbert MM, Williams BD, Moerman DG. The UNC-112 gene in Caenorhabditis elegans encodes a novel component of cell-matrix adhesion structures required for integrin localization in the muscle cell membrane. J Cell Biol 2000;150:253-64.
24. Schaller MD. UNC112. A new regulator of cell-extracellular matrix adhesions? J Cell Biol 2000;150:F9-11.
25. MacKinnon AC, Qadota H, Norman KR, Moerman DG, Williams BD. C. elegans PAT-4/ILK functions as an adaptor protein within integrin adhesion complexes. Curr Biol 2002;12:787-97.
26. Bretscher A, Edwards K, Fehon RG. ERM proteins and merlin: integrators at the cell cortex. Nat Rev Mol Cell Biol 2002;3:586-99.
27. Kloeker S, Major MB, Calderwood DA, Ginsberg MH, Jones DA, Beckerle MC. The Kindler syndrome protein is regulated by transforming growth factor-beta and involved in integrin-mediated adhesion. J Biol Chem 2004;279:6824-33.
28. Chishti AH, Kim AC, Marfatia SM, Lutchman M, Hanspal M, Jindal H et al. The FERM domain: a unique module involved in the linkage of cytoplasmic proteins to the membrane. Trends Biochem Sci 1998;23:281-2.
29. Lemmon MA, Ferguson KM, Abrams CS. Pleckstrin homology domains and the cytoskeleton. FEBS Lett 2002;513:71-6.
30. Maffucci T, Falasca M. Specificity in pleckstrin homology (PH) domain membrane targeting: a role for a phosphoinositide-protein co-operative mechanism. FEBS Lett 2001;506:173-9.
31. Zamir E, Geiger B. Molecular complexity and dynamics of cell-matrix adhesions. J Cell Sci 2001;114:3583-90.
32. Tu Y, Wu S, Shi X, Chen K, Wu C. Migfilin and Mig-2 link focal adhesions to filamin and the actin cytoskeleton and function in cell shape modulation. Cell 2003;113:37-47.
33. Weinstein EJ, Bourner M, Head R, Zakeri H, Bauer C, Mazzarella R. URP1: a member of a novel family of PH and FERM domain-containing membrane-associated proteins is significantly over-expressed in lung and colon carcinomas. Biochim Biophys Acta 2003;1637:207-16.