Type 1 segmental galli-galli disease resulting from a previously unreported keratin 5 mutation

Journal of Investigative Dermatology

Volumn 132, Issue 8, 2012, Pages 2100-2103

  Arnold, Andreas W ^a,b   Kiritsi, Dimitra ^a   Happle, Rudolf ^a   Kohlhase, Jürgen ^c   Hausser, Ingrid ^d   Bruckner Tuderman, Leena ^a   Has, Cristina ^a   Itin, Peter H ^b  

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY HOSPITAL BASEL   (Switzerland)

^c UNIVERSITY OF FREIBURG   (Germany)

^d UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOKERATIN 5;

ACANTHOLYSIS; ADULT; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CLINICAL FEATURE; EPIDERMOLYSIS BULLOSA SIMPLEX; FEMALE; GALLI GALLI DISEASE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPERPIGMENTATION; KERATINOCYTE; LETTER; MEDICAL HISTORY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PARAKERATOSIS; PRIORITY JOURNAL; SKIN DISEASE; SKIN EXAMINATION; THIGH;

EID: 84863981085     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2012.72     Document Type: Letter

References (17)

1. Asahina A, Ishii N, Kai H et al. (2007) Dowling-Degos disease with asymmetrical axillary distribution and no KRT 5 exon 1 mutation. Acta Derm Venereol 87:556-7
2. Bardach H, Gebhart W, Luger T (1982) Genodermatosis in a pair of brothers: Dowling-Degos, Grover, Darier, Hailey-Hailey or Galli-Galli disease?. Hautarzt 33:378-83
3. Betz RC, Planko L, Eigelshoven S et al. (2006) Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease. Am J Hum Genet 78:510-9
4. Braun-Falco M, Volgger W, Borelli S et al. (2001) Galli-Galli disease: an unrecognized entity or an acantholytic variant of Dowling-Degos disease? J Am Acad Dermatol 45: 760-3
5. Chan YM, Yu QC, Fine JD et al. (1993) The genetic basis of Weber-Cockayne epidermolysis bullosa simplex. Proc Natl Acad Sci USA 90:7414-8
6. El Shabrawi-Caelen L, Hofer A, Kerl H (2007a) Macro-micro dermatology: erythematous papules and lentigo-like macules-a new entity? J Dtsch Dermatol Ges 5:645-6
7. El Shabrawi-Caelen L, Rutten A, Kerl H (2007b) The expanding spectrum of Galli-Galli disease. J Am Acad Dermatol 56:S86-91
8. Guo L, Luo X, Zhao A et al. (2011) A novel heterozygous nonsense mutation of keratin 5 in a chinese family with Dowling-Degos disease. J Eur Acad Dermatol Venereol; e-pub ahead of print 14 May 2011
9. Hanneken S, Rutten A, Pasternack SM et al. (2010) Systematic mutation screening of KRT5 supports the hypothesis that Galli-Galli disease is a variant of Dowling-Degos disease. Br J Dermatol 163:197-200
10. Happle R (1993) Mosaicism in human skin: understanding the patterns and mechanisms. Arch Dermatol 129:1460-70
11. Happle R (1996) Segmental forms of autosomal dominant skin disorders: different types of severity reflect different states of zygosity. Am J Med Genet 66:241-2
12. Has C, Chang YR, Volz A et al. (2006) Novel keratin 14 mutations in patients with severe recessive epidermolysis bullosa simplex. J Invest Dermatol 126:1912-4
13. Liao H, Zhao Y, Baty DU et al. (2007) A heterozygous frameshift mutation in the V1 domain of keratin 5 in a family with Dowling-Degos disease. J Invest Dermatol 127:298-300
14. Muller CS, Pfohler C, Tilgen W (2009) Changing a concept-controversy on the confusing spectrum of the reticulate pigmented disorders of the skin. J Cutan Pathol 36: 44-8
15. Schuilenga-Hut PH, Vlies P, Jonkman MF et al. (2003) Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations. Hum Mutat 21:447
16. Sprecher E, Indelman M, Khamaysi Z et al. (2007) Galli-Galli disease is an acantholytic variant of Dowling-Degos disease. Br J Dermatol 156:572-4
17. Yasukawa K, Sawamura D, Goto M et al. (2006) Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases. Br J Dermatol 155:313-7