Disadhesion of epidermal keratinocytes: A histologic clue to palmoplantar keratodermas caused by DSG1 mutations

Journal of the American Academy of Dermatology

Volumn 62, Issue 1, 2010, Pages 107-113

  Bergman, Reuven ^a   Hershkovitz, Dov ^a   Fuchs, Dana ^b   Indelman, Margarita ^a   Gadot, Yael ^a   Sprecher, Eli ^b  

^a RAMBAM MEDICAL CENTER   (Israel)

^b TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

Author keywords

desmoglein 1; histopathology; keratoderma

Indexed keywords

DESMOGLEIN 1;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CELL VACUOLE; CHILD; CLINICAL ARTICLE; CONGENITAL PACHYONYCHIA; CYTOPLASM; DISEASE ASSOCIATION; EOSINOPHIL; FEMALE; GENE MUTATION; GRANULAR CELL; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INFANT; INTRACELLULAR SPACE; KERATINOCYTE; MALE; PALMOPLANTAR KERATODERMA; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DESMOGLEIN 1; EPIDERMIS; EXTRACELLULAR SPACE; FEMALE; HUMANS; INFANT; KERATINOCYTES; KERATODERMA, PALMOPLANTAR; MALE; MUTATION; YOUNG ADULT;

EID: 71649093068     PISSN: 01909622     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaad.2009.05.016     Document Type: Article

References (29)

1. Ries A., Kuster W., Eckardt R., and Sperling K. Mapping of a gene for epidermolytic palmoplantar keratoderma to the region of the acidic keratin gene cluster at 17q12-q21. Hum Genet 90 (1992) 113-116
2. Ries A., Hennies A.C., Langbein L., Diqweed M., Mischke D., Drechsler M., et al. Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK). Nat Genet 2 (1994) 174-179
3. Bergman R., Khamaysi Z., and Sprecher E. A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma. Am J Dermatopathol 2 (2008) 101-105
4. Bergman R. Dermatopathology and molecular genetics. J Am Acad Dermatol 58 (2008) 452-457
5. Rickman L., Simrak D., Stevens H.P., Hunt D.M., King I.A., Bryant S.P., et al. N-terminal detection in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma. Hum Mol Genet 6 (1999) 971-976
6. Armstrong D.K., McKenna K.E., Purkis P.E., Green K.J., Eady R.A., Leigh I.M., et al. Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma. Hum Mol Genet 1 (1999) 143-148
7. Whittock N.V., Smith F.J., Wan H., Mallipeddi R., Griffiths W.A., Dopping-Hepenstal P., et al. Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma. J Invest Dermatol 5 (2002) 838-844
8. Wan H., Dopping-Hepenstal P.J., Gratian M.J., Stone M.G., Zhu G., Purkis P.E., et al. Striate palmoplantar keratoderma arising from desmoplakin and desmoglein 1 mutations is associated with contrasting perturbations of desmosomes and the keratin filament network. Br J Dermatol 150 (2004) 878-891
9. Whittock N.V., Ashton G.H.S., Dopping-Hepenstal P.J.C., Gratian M.J., Keane F.M., Eady R.A., et al. Striate palmplantar keratoderma resulting from desmoplakin haploinsufficiency. J Invest Dermatol 6 (1999) 940-946
10. Keren H., Bergman R., Mizrachi M., Kashi Y., and Sprecher E. Diffuse nonepidermolytic palmoplantar keratoderma caused by a recurrent nonsense mutation in DSG1. Arch Dermatol 5 (2005) 625-628
11. Hershkovitz D., Lugassy J., Indelman M., Bergman R., and Sprecher E. Novel mutations in DSG1 causing striate palmoplantar keratoderma. Clin Exp Dermatol 34 (2009) 224-228
12. Hunt D.M., Rickman L., Whittock N.V., Eady R.A., Simrak D., Dopping-Hepenstal P.J., et al. Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma. Eur J Hum Genet 3 (2001) 197-203
13. Kljuic A., Gilead L., Martinez-Mir A., Frank J., Christiano A.M., and Zlotogorski A. A nonsense mutation in the desmoglein 1 gene underlies striate keratoderma. Exp Dermatol 4 (2003) 523-527
14. Milingou M., Wood P., Masouye I., McLean W.H., and Borradori L. Focal palmoplantar keratoderma caused by an autosomal dominant inherited mutation in the desmoglein 1 gene. Dermatology 2 (2006) 117-122
15. Norgett E.E., Hatsell S.J., Carvajal-Huerta L., Cabezas J.C., Common J., Purkis P.E., et al. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, wooly hair and keratoderma. Hum Mol Genet 18 (2000) 2761-2766
16. Uzumcu A., Norgett E.E., Dindar A., Uyguner O., Nisli K., Kayserili H., et al. Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in Naxos-like syndrome. [letter]. J Med Genet 2 (2006) e5
17. Whittock N.V., Wan H., Morley S.M., Garzon M.C., Kristal L., Hyde P., et al. Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/wooly hair syndrome. J Invest Dermatol 2 (2002) 232-238
18. Dusek R.L., Godsel L.M., and Green K.J. Discriminating roles of desmosomal cadherins: beyond desmosomal adhesion. J Dermatol Sci 1 (2007) 7-21
19. McGrath J.A., McMillian J.R., Shemanko C.S., Runswick S.K., Leigh I.M., Lane E.B., et al. Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. Nat Genet 2 (1997) 240-244
20. McGrath J.A., Hoeger P.H., Christiano A.M., McMillan J.R., Mellerio J.E., Ashton G.H., et al. Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1. Br J Dermatol 2 (1999) 297-307
21. Whittock N.V., Haftek M., Angoulvant N., Wolf F., Perrot H., Eady R.A., et al. Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome. J Invest Dermatol 3 (2000) 368-374
22. Hamada T., South A.P., Mitsuhashi Y., Kinebuchi T., Bleck O., Ashton G.H., et al. Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1. Exp Dermatol 2 (2002) 107-114
23. Sprecher E., Molho-Pessach V., Ingber A., Sagi E., Indelman M., and Bergman R. Homozygous splice site mutations in PKP1 result in loss of epidermal plakophilin 1 expression and underlie ectodermal dysplasia/skin fragility syndrome in two consanguineous families. J Invest Dermatol 3 (2004) 647-651
24. Bergman R., and Sprecher E. The histopathology of ectodermal dysplasia/skin fragility syndrome. Am J Dermatopathol 4 (2005) 333-338
25. Bergman R., Harel A., and Sprecher E. Dyskeratosis as an histological feature in epidermolysis bullosa simplex-Dowling Meara. J Am Acad Dermatol 3 (2007) 463-466
26. Smith F.J., Del Monaco M., Steijlen P.M., Munro C.S., Morvay M., Coleman C.M., et al. Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenital type I. Br J Dermatol 6 (1999) 1010-1016
27. Shamsher M.K., Navsaria H.A., Stevens H.P., Ratnavel R.C., Purkis P.E., Kelsell D.P., et al. Novel mutations in keratin 16 gene underlie focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families. Hum Mol Genet 4 (1995) 1875-1881
28. Liao H., Sayers J.M., Wilson N.J., Irvine A.D., Mellerio J.E., Baselga E., et al. A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita. J Dermatol Sci 48 (2007) 199-205
29. Terrinoni A., Puddu P., Didona B., De Laurenzi V., Candi E., and Smith F.J.D. A mutation in the V1 domain of K16 is responsible for unilateral palmoplantar verrucous nevus. J Invest Dermatol 114 (2000) 1136-1140