Disorders of keratinisation: From rare to common genetic diseases of skin and other epithelial tissues

Ulster Medical Journal

Volumn 76, Issue 2, 2007, Pages 72-82

  McLean, W H Irwin ^a   Irvine, Alan D ^b,c  

^a UNIVERSITY OF DUNDEE   (United Kingdom)

^b OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^c TRINITY COLLEGE DUBLIN   (Ireland)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOKERATIN 1; CYTOKERATIN 10; CYTOKERATIN 12; CYTOKERATIN 13; CYTOKERATIN 14; CYTOKERATIN 16; CYTOKERATIN 17; CYTOKERATIN 18; CYTOKERATIN 2E; CYTOKERATIN 5; CYTOKERATIN 6A; CYTOKERATIN 8; CYTOKERATIN 9; DESMOPLAKIN; DNA FRAGMENT; KERATIN; PLECTIN; PROFILAGGRIN; STERYL SULFATASE; UNCLASSIFIED DRUG;

ATOPIC DERMATITIS; BULLOUS SKIN DISEASE; CELL STRUCTURE; CHILDHOOD DISEASE; CONGENITAL CORNEA DYSTROPHY; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; CONGENITAL PACHYONYCHIA; DYSKERATOSIS; ECTODERMAL DYSPLASIA; ENTERITIS; EPIDERMOLYSIS; EPITHELIUM CELL; FOLLICULITIS; GENE CLUSTER; GENE DELETION; GENE EXPRESSION REGULATION; GENE MUTATION; GENETIC DISORDER; GENETIC LINKAGE; GENETIC RISK; GENOME ANALYSIS; HEREDITY; HUMAN; ICHTHYOSIS; KERATOSIS PALMOPLANTARIS; LIVER CIRRHOSIS; MALIGNANT ATROPHIC PAPULOSIS; MONILETHRIX; NEVUS; NONHUMAN; PHENOTYPE; POLYMERASE CHAIN REACTION; PROTEIN EXPRESSION; PROTEIN STRUCTURE; REVIEW; SKIN EPITHELIUM; TISSUE STRUCTURE; X CHROMOSOME;

EPITHELIUM; HUMANS; ICHTHYOSIS; KERATINOCYTES; KERATINS; PROGNOSIS; SKIN;

EID: 34147137186     PISSN: 00416193     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (78)

1. Omary MB, Coulombe PA, McLean WH. Intermediate filament proteins and their associated diseases. N Engl J Med 2004; 351(20):2087-100.
2. Lane EB. Keratins. In: Royce PM, Steinmann B, editors. Connective Tissue and its Heritable Disorders Molecular, Genetic and Medical Aspects. New York: Wiley-Liss Inc.; 1993. p. 237-47.
3. Schweizer J, Bowden PE, Coulombe PA, Langbein L, Lane EB, Magin TM, et al. New consensus nomenclature for mammalian keratins. J Cell Biol 2006;174(2): 169-74.
4. Irvine AD, McLean WH. Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation. Br J Dermatol 1999;140(5):815-28.
5. Green KJ, Jones JC. Desmosomes and hemidesmosomes: structure and function of molecular components. FASEB J 1996; 10(8):871-81.
6. Candi E, Schmidt R, Melino G. The cornified envelope: a model of cell death in the skin. Nat Rev Mol Cell Biol 2005;6(4):328-40.
7. Hitomi K. Transglutaminases in skin epidermis. Eur J Dermatol 2005;15(5):313-9.
8. Langbein L, Schweizer J. Keratins of the human hair follicle. Int Rev Cytol 2005;243:1-78.
9. Bonifas JM, Morley BJ, Oakey RE, Kan YW, Epstein EH, Jr. Cloning of a cDNA for steroid sulfatase: frequent occurrence of gene deletions in patients with recessive X chromosome-linked ichthyosis. Proc Natl Acad Sci 1987;84(24):9248-51.
10. Saiki RK, Gelf and DH, Stoffel S, Scharf SJ, Higuchi R, Horn GT, et al. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 1988;239(4839):487-91.
11. Albers K, Fuchs E. Expression of mutant keratin cDNAs in epithelial cells reveals possible mechanisms for initiation and assembly of intermediate filaments. J Cell Biol 1989;108(4): 1477-93.
12. Lu X, Lane EB. Retrovirus-mediated transgenic keratin expression in cultured fibroblasts: specific domain functions in keratin stabilization and filament formation. Cell 1990;62(4):681-96.
13. Vassar R, Coulombe PA, Degenstein L, Albers K, Fuchs E. Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease. Cell 1991;64(2):365-80.
14. Ishida-Yamamoto A, McGrath JA, Chapman SJ, Leigh IM, Lane EB, Eady RA. Epidermolysis bullosa simplex (Dowling-Meara type) is a genetic disease characterized by an abnormal keratin filament network involving keratins K5 and K14. J Invest Dermatol 1991;97(6):959-68.
15. Bonifas JM, Rothman AL, Epstein EH. Linkage of epidermolysis bullosa simplex to probes in the region of keratin gene clusters on chromosomes 12q and 17q. J Invest Dermatol 1991;96:550a.
16. Bonifas JM, Rothman AL, Epstein EH. Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities. Science 1991;254(5035): 1202-5.
17. Coulombe PA, Hutton ME, Letai A, Hebert A, Pallet AS, Fuchs E. Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analysis. Cell 1991;66(6): 1301-11.
18. Lane EB, Rugg EL, Navsaria H, Leigh IM, Heagerty AHM, Ishida-Yamamoto A, et al. A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering. Nature 1992; 356(6366):244-6.
19. Steinert PM, Yang JM, Bale SJ, Compton JG. Concurrence between the molecular overlap regions in keratin intermediate filaments and the locations of keratin mutations in genodermatoses. Biochem Biophys Res Commun 1993;197(2):840-8.
20. Chan YM, Yu QC, Fine JD, Fuchs E. The genetic basis of Weber-Cockayne epidermolysis bullosa simplex. Proc Natl Acad Sci 1993; 90(15):7414-8.
21. Rugg EL, Morley SM, Smith FJD, Boxer M, Tidman MJ, Navsaria H, et al. Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function. Nat Genet 1993;5(3):294-300.
22. Uttam J, Hutton E, Coulombe PA, Anton-Lamprecht I, Yu QC, Gedde-Dahl T, et al. The genetic basis of epidermolysis bullosa simplex with mottled pigmentation. Proc Natl Acad Sci 1996; 93(17):9079-84.
23. Irvine AD, McKenna KE, Jenkinson H, Hughes AE. A mutation in the V1 domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation. J Invest Dermatol 1997;108(5): 809-10.
24. Rugg EL, McLean WHI, Lane EB, Pitera R, McMillan JR, Dopping-Hepenstal PJC, et al. A functional "knockout" of human keratin 14. Genes Dev 1994;8(21): 2563-73.
25. Ciubotaru D, Bergman R, Baty D, Indelman M, Pfendner E, Petronius D, et al. Epidermolysis bullosa simplex in Israel: clinical and genetic features. Arch Dermatol 2003;139(4):498-505.
26. Betz RC, Planko L, Eigelshoven S, Hanneken S, Pasternack SM, Bussow H, et al. Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease. Am J Hum Genet 2006;78(3):510-9.
27. Liao H, Zhao Y, Baty DU, McGrath JA, Mellerio JE, McLean WHI. A heterozygous frameshift mutation in the V1 domain of keratin 5 in a family with Dowling-Degos disease. J Invest Dermatol 2007; 127:298-300.
28. Lugassy J, Itin P, Ishida-Yamamoto A, Holland K, Huson S, Geiger D, et al. Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14. Am J Hum Genet 2006; 79(4):724-30.
29. van Steensel MA, Steijlen PM, Bladergroen RS, Vermeer M, van Geel MA missense mutation in the type II hair keratin hHb3 is associated with monilethrix. J Med Genet 2005;42(3):e19.
30. Naeem M, Wajid M, Lee K, Leal SM, Ahmad W. A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type. J Med Genet 2006;430):274-9.
31. Ku NO, Gish R, Wright TL, Omary MB. Keratin 8 mutations in patients with cryptogenic liver disease. N Engl J Med 2001; 344(21):1580-7.
32. Owens DW, Wilson NJ, Hill AJ, Rugg EL, Porter RM, Hutcheson AM, et al. Human keratin 8 mutations that disturb filament assembly observed in inflammatory bowel disease patients. J Cell Sci 2004; 117(10): 1989-99.
33. Cheng J, Syder AJ, Yu QC, Letai A, Paller AS, Fuchs E. The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes. Cell 1992;70(5):811-9.
34. Chipev CC, Korge BP, Markova N, Bale SJ, DiGiovanna JJ, Compton JC, et al. A leucine - proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis. Cell 1992; 70(5):821-8.
35. McLean WHI, Eady RA, Dopping-Heppenstal PJ, McMillan JR, Leigh IM, Navsaria HA, et al. Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE). J Invest Dermatol 1994;102(1):24-30.
36. Rothnagel JA, Dominey AM, Dempsey LD, Longley MA, Greenhalg DA, Gagne TA, et al. Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. Science 1992; 257(5073):1128-30.
37. Rothnagel JA, Traupe H, Wojcik S, Huher M, Hohl D, Pittelkow MR, et al. Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens. Nat Genet 1994;7(4):485-90.
38. Kremer H, Zeeuwen P, McLean WHI, Mariman EC, Lane EB, van de Kerkhof CM, et al. Ichthyosis bullosa of Siemens is caused by mutations in the keratin 2e gene. J Invest Dermatol 1994;103(3):286-9.
39. McLean WHI, Morley SM, Lane EB, Eady RAJ, Griffiths WAD, Paige DG, et al. Ichthyosis bullosa of Siemens - a disease involving keratin 2e. J Invest Dermatol 1994;103(3):277-81.
40. Langbein L, Heid HW, Moll I, Franke WW. Molecular characterization of the body site-specific human epidermal cytokeratin 9: cDNA cloning, amino acid sequence, and tissue specificity of gene expression. Differentiation 1993;55(1):57-71.
41. Swensson O, Langbein L, McMillan JR, Stevens HP, Leigh IM, McLean WHI, et al. Specialized keratin expression pattern in human ridged skin as an adaptation to high physical stress. Br J Dermatol 1998; 139(5):767-75.
42. Reis A, Hennies HC, Langbein L, Digweed M, Mischke D, Drechsler M, et al. Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK). Nature Genet 1994;6(2):174-9.
43. Covello SP, Irvine AD, McKenna KE, Munro CS, Nevin NC, Smith FJD, et al. Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland. J Invest Dermatol1998;111(6):1207-9.
44. Smith FJD, Liao H, Cassidy AJ, Stewart A, Hamill KJ, Wood P, et al. The genetic basis of pachyonychia congenita. J Invest Dermatol Symp Proc 2005;10(1):21-30.
45. Leachman SA, Kaspar RL, Fleckman P, Florell SR, Smith FJ, McLean WHI, et al. Clinical and pathological features of pachyonychia congenita. J Invest Dermatol Syrup Proc 2005;10(1):3-17.
46. Bowden PE, Haley JL, Kansky A, Rothnagel JA, Jones DO, Turner RJ. Mutation of a type II keratin gene (K6a) in pachyonychia congenita. Nat Genet 1995;10(3):363-5.
47. McLean WHI, Rugg EL, Lunny DP, Morley SM, Lane EB, Swensson O, et al. Keratin 16 and keratin 17 mutations cause pachyonychia congenita. Nat Genet 1995;9(3):273-8.
48. Smith FJD, Jonkman MF, van Goor H, Coleman CM, Covello SP, Uitto J, et al. A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2. Hum Mol Genet 1998; 7(7):1143-8.
49. McKusick VA. The illnesses of the great and near-great. Bull Hist Med 1955;29(4):377-81.
50. Rugg EL, McLean WHI, Allison WE, Lunny DP, Macleod RI, Felix DH, et al. A mutation in the mucosal keratin K4 is associated with oral white sponge nevus. Nat Genet 1995;11(4):450-2.
51. Richard G, DeLaurenzi V, Didona B, Bale SJ, Compton JG. Keratin 13 point mutation underlies the hereditary mucosal epithelial disorder white sponge nevus. Nat Genet 1995;11(4):453-5.
52. Irvine AD, Corden LD, Swensson O, Swensson B, Moore JE, Frazer DG, et al. Mutations in cornea-specific keratin K3 or K12 cause Meesmann's corneal dystrophy. Nat Genet 1997;16(2):184-7.
53. Winter H, Rogers MA, Gebhardt M, Wollina U, Boxall L, Chitayat D, et al. A new mutation in the type II hair cortex keratin hHb 1 involved in the inherited hair disorder monilethrix. Hum Genet 1997; 101(2):165-9.
54. Winter H, Rogers MA, Langbein L, Stevens HP, Leigh IM, Labreze C, et al. Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix. Nat Genet 1997;16(4):372-4.
55. Winter H, Labreze C, Chapalain V, Surleve-Bazeille JE, Mercier M, Rogers MA, et al. A variable monilethrix phenotype associated with a novel mutation, Glu402Lys, in the helix termination motif of the type II hair keratin hHbl. J Invest Dermatol 1998;111(1):169-72.
56. Yasukawa K, Sawamura D, McMillan JR, Nakamura H, Shimizu H. Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly. J Biol Chem 2002; 277(26):23670-4.
57. Naeem M, Jelani M, Lee K, Ali G, Chishti MS, Wali A, et al. Ectodermal dysplasia of hair and nail type: mapping of a novel locus to chromosome 17p12-q21.2. Br J Dermatol 2006;155(6):1184-90.
58. Smith FJD, Eady RAJ, Leigh IM, McMillan JR, Rugg EL, Kelsell DP, et al. Plectin deficiency results in muscular dystrophy with epidermolysis bullosa. Nat Genet 1996;13(4):450-7.
59. McLean WHI, Pulkkinen L, Smith FJD, Rugg EL, Lane EB, Bullrich F, et al. Loss of plectin causes epidermolysis bullosa with muscular dystrophy -cDNA cloning and genomic organization. Genes Dev 1996;10(14):1724-35.
60. Armstrong DK, McKenna KE, Purkis PE, Green KJ, Eady RA, Leigh IM, et al. Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma. Hum Mol Genet 1999;8(1):143-8.
61. McGrath JA, McMillan JR, Shemanko CS, Runswick SK, Leigh IM, Lane EB, et al. Mutations in the plakophilin 1 gene can result in ectodermal dysplasia/skin fragility syndrome. Nat Genet 1997; 17(2):240-4.
62. McKoy G, Protonotarios N, Crosby A, Tsatsopoulou A, Anastasakis A, Coonar A, et al. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet 2000; 355(9221):2119-24.
63. Norgett EE, Hatsell SJ, Carvajal-Huerta L, Cabezas JC, Common J, Purkis PE, et al. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet 2000; 9(18):2761-6.
64. Irvine AD, McLean WHI. Breaking the (un)sound barrier: filaggrin is a major gene for atopic dermatitis. J Invest Dermatol 2006; 126(6):1200-2.
65. Huber M, Rettler I, Bernasconi K, Frenk E, Lavrijsen SP, Ponec M, et al. Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Science 1995;267(5197):525-8.
66. Russell LJ, DiGiovanna JJ, Rogers GR, Steinert PM, Hashem N, Compton JG, et al. Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis. Nat Genet 1995;9(3):279-83.
67. Cassidy AJ, van Steensel MA, Steijlen PM, van Geel M, van der Velden J, Morley SM, et al. A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome. Am J Hum Genet 2005;77(6):909-17.
68. Wells RS, Kerr CB. Clinical features of autosomal dominant and sex-linked ichthyosis in an English population. Br Med J 1966; 1:947-50.
69. Tay YK, Khoo BP, Goh CL. The epidemiology of atopic dermatitis at a tertiary referral skin center in Singapore. Asian Pac J Allergy Immunol 1999;17(3):137-41.
70. Mevorah B, Marazzi A, Frenk E. The prevalence of accentuated palmoplantar markings and keratosis pilaris in atopic dermatitis, autosomal dominant ichthyosis and control dermatological patients. Br J Dermatol 1985;112(6):679-85.
71. Spergel JM, Paller AS. Atopic dermatitis and the atopic march. J Allergy Clin Immunol 2003;112(6 Suppl):S118-27.
72. Rawlings AV, Harding CR. Moisturization and skin barrier function. Dermatol Ther 2004;17(Suppl 1):43-8.
73. Smith FJD, Irvine AD, Terron-Kwiatkowski A, Sandilands A, Campbell LE, Zhao Y et al. Loss of function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nature Genet 2006; 38:337-342.
74. Palmer CN, Irvine AD, Terron-Kwiatkowski A, Zhao Y, Liao H, Lee SP, et al. Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nat Genet 2006;38(4):441-6.
75. Weidinger S, Illig T, Baurecht H, Irvine AD, Rodriguez E, Diaz-Lacava A, et al. Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations. J Allergy Clin Immunol 2006;118:214-219.
76. Weidinger S, Rodriguez E, Stahl C, Wagenpfeil S, Klopp N, Illig T, et al. Filaggrin mutations strongly predispose to early-onset and extrinsic atopic dermatitis. J Invest Dermatol 2007; 127:724-726.
77. Marenholz I, Nickel R, Ruschendorf F, Schulz F, Esparza-Gordillo J, Kerscher T, et al. Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march. J Allergy Clin Immunol 2006;118(4):866-71.
78. Barker JN, Palmer CAN, Zhao Y, Liao H, Hull PR, Lee SP, et al. Null Mutations in the Filaggrin Gene (FLG) Determine Major Susceptibility to Early-Onset Atopic Dermatitis that Persists into Adulthood. J Invest Dermatol 2007;127:564-567.