A new type of erythrokeratoderma

British Journal of Dermatology

Volumn 152, Issue 1, 2005, Pages 155-158

  Van Steensel, M A M ^a   Van Geel, M ^a   Steijlen, P M ^a  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

ARS complex B; Connexin; Erythrokeratoderma; Keratoderma; Loricrin; Mutation

Indexed keywords

CONNEXIN 26; CONNEXIN 30; CONNEXIN 31; LORICRIN; UNCLASSIFIED DRUG; ETRETIN; GAP JUNCTION PROTEIN;

ADULT; ARTICLE; CASE REPORT; DISEASE CLASSIFICATION; ERYTHRODERMA; ERYTHROKERATODERMA; GENE EXPRESSION REGULATION; GENE MUTATION; GENETIC ASSOCIATION; GENODERMATOSIS; HUMAN; KERATODERMA; KERATOSIS PALMOPLANTARIS; MALE; PRIORITY JOURNAL; TISSUE DISTRIBUTION; CLINICAL FEATURE; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; DISEASE SEVERITY; FOLLOW UP; HISTOPATHOLOGY; HYPERKERATOSIS; PATIENT SATISFACTION; PHOTOGRAPHY; POLYMERASE CHAIN REACTION;

ADULT; ARM; DERMATITIS, EXFOLIATIVE; HUMANS; KERATODERMA, PALMOPLANTAR; KERATOSIS; LEG DERMATOSES; MALE;

EID: 13244279697     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2005.06319.x     Document Type: Article

References (26)

1. Knipe RC, Flowers FP, Johnson FR Jr et al. Erythrokeratoderma variabilis: case report and review of the literature. Pediatr Dermatol 1995; 12:21-3.
2. Richard G, Smith LE, Bailey RA et al. Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. Nat Genet 1998; 20:366-9.
3. Macari F, Landau M, Cousin P et al. Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis. Am J Hum Genet 2000; 67:1296-301.
4. van Geel M, Steensel MAM, Kuster W et al. HID and KID syndromes are associated with the same connexin 26 mutation. Br J Dermatol 2002; 146:938-42.
5. Richard G, Rouan F, Willoughby CE et al. Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis- deafness syndrome. Am J Hum Genet 2002; 70:1341-8.
6. van Steensel MAM, Geel M, Nahuys M et al. A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome. J Invest Dermatol 2002; 118:724-7.
7. Ishida-Yamamoto A, Kelsell D, Common J et al. A case of erythrokeratoderma variabilis without mutations in connexin 31. Br J Dermatol 2000; 143:1283-7.
8. Arita K, Akiyama M, Tsuji Y et al. Erythrokeratoderma variabilis without connexin 31 or connexin 30.3 gene mutation: immunohistological, ultrastructural and genetic studies. Acta Derm Venereol (Stockh) 2003; 83:266-70.
9. van Geel M, Steensel MAM, Steijlen PM. Connexin 30.3 (GJB4) is not required for normal skin function in humans. Br J Dermatol 2002; 147:1275-7.
10. Levi L, Beneggi M, Crippa D et al. [Gottron's erythroderma congenitalis progressiva symmetrica]. Hautarzt 1982; 33:605-8.
11. Dupertuis MC, Laroche L, Huault MC et al. [Progressive and symmetrical erythrokeratoderma of Darier-Gottron]. Ann Dermatol Venereol 1991; 118:775-8.
12. Tamayo L, Ruiz-Maldonado R. Oral retinoid (Ro 10-9359) in children with lamellar ichthyosis, epidermolytic hyperkeratosis and symmetrical progressive erythrokeratoderma. Dermatologica 1980; 161:305-14.
13. Kiesewetter F, Simon M Jr, Fartasch M et al. Progressive partially symmetric erythrokeratodermia with deafness: histological and ultrastructural evidence for a subtype distinct from Schnyder's syndrome. Dermatology 1993; 186:222-5.
14. Miura Y, Yoshiike T, Sou H et al. [A case report of progressive symmetric erythrokeratodermia and a review of progressive erythrokeratodermia in Japan]. Nippon Hifuka Gakkai Zasshi 1991; 101:635-43.
15. Khoo BP, Tay YK, Tan SH. Generalized erythematous plaques. Progressive symmetric erythrokeratodermia (PSEK) (erythrokeratodermia progressiva symmetrica). Arch Dermatol 2000; 136: 665, 668.
16. Kudsi S, Naeyaert JM. Progressive symmetric erythrokeratodermia of Darier Gottron. Dermatologica 1990; 180:196-7.
17. Rodriguez-Pichardo A, Garcia-Bravo B, Sanchez-Pedreno P et al. Progressive symmetric erythrokeratodermia. J Am Acad Dermatol 1988; 19:129-30.
18. Borbujo Martinez J, Casado Jimenez M, Jimenez Acosta F et al. [Progressive symmetric erythrokeratodermia. Report of a case with delayed onset treated by etretinate]. Med Cutan Ibero Lat Am 1988; 16:236-8.
19. Emmert S, Kuster W, Schauder S et al. [Erythrokeratodermia progressiva symmetrica Darier-Gottron with generalized expression]. Hautarzt 1998; 49:666-71.
20. Kuchineister B, Schaeg G, Kuhlwein A. [Gottron's erythrokeratodermia congenitalis progressiva symmetrica with atypical involvement of nails in the sense of pachyonychia]. Z Hautkr 1983; 58: 621-32.
21. Nazzaro V, Blanchet-Bardon C. Progressive symmetric erythrokeratodermia. Histological and ultrastructural study of patient before and after treatment with etretinate. Arch Dermatol 1986; 122:434-40.
22. Nir M, Tanzer F. Progressive symmetric erythrokeratodermia. Dermatologica 1978; 156:268-73.
23. Gray LC, Davis LS, Guill MA. Progressive symmetric erythrokeratodermia. J Am Acad Dermatol 1996; 34:858-9.
24. Macfarlane AW, Chapman SJ, Verbov JL. Is erythrokeratoderma one disorder? A clinical and ultrastructural study of two siblings. Br J Dermatol 1991; 124:487-91.
25. van Steensel MAM. Does progressive symmetric erythrokeratoderma exist? Br J Dermatol 2004; 150:1043-5.
26. Itin PH, Moschopulos M, Richard G. Reticular erythrokeratoderma: a new disorder of cornification. An J Med Genet 2003; 120A: 237-40.