Ichthyoses - Part 1: Differential diagnosis of vulgar ichthyoses and therapeutic options;Ichthyosen - Teil 1: Differentialdiagnose vulgärer Ichthyosen und therapeutische Erwägungen

JDDG - Journal of the German Society of Dermatology

Volumn 7, Issue 6, 2009, Pages 511-520

  Krug, Markus ^a,c   Oji, Vinzenz ^b   Traupe, Heiko ^b   Berneburg, Mark ^a  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b UNIVERSITY OF MÜNSTER   (Germany)

^c Department of Dermatology ^*  (Germany)

Author keywords

Associated symptoms; Disorder of cornification; Ichthyosis; Network for ichthyoses; Therapy

Indexed keywords

ALPHA TOCOPHEROL; BICARBONATE; DEXPANTHENOL; ETRETIN; ETRETINATE; GLYCEROL; LACTATE SODIUM; LACTIC ACID; MACROGOL; PIMECROLIMUS; PROPYLENE GLYCOL; RETINOIC ACID; RETINOID; SALICYLIC ACID; SODIUM CHLORIDE; TACROLIMUS; TAZAROTENE; UREA;

AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL DOMINANT LAMELLAR ICHTHYOSIS; AUTOSOMAL RECESSIVE INHERITANCE; BATH; BULLOUS CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; CHONDRODYSPLASIA PUNCTATA; COMEL NETHERTON SYNDROME; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; DIAGNOSTIC ACCURACY; DIFFERENTIAL DIAGNOSIS; ELECTRON MICROSCOPY; ENZYME DEFICIENCY; GENE MUTATION; GENETIC DISORDER; HARLEQUIN ICHTHYOSIS; HISTOPATHOLOGY; HUMAN; HYPEROSTOSIS; ICHTHYOSIS; ICHTHYOSIS BULLOSA OF SIEMENS; ICHTHYOSIS FOLLICULARIS WITH ATRICHIA AND PHOTOPHOBIA; ICHTHYOSIS HYSTRIX CURTH MACKLIN; ICHTHYOSIS LINEARIS CIRCUMFLEXA; ICHTHYOSIS VULGARIS; KERATOLYSIS; LAMELLAR ICHTHYOSIS; LIVER TOXICITY; LOW DRUG DOSE; PEELING SKIN SYNDROME; PHENOTYPE; QUALITY OF LIFE; REFSUM DISEASE; REVIEW; SEROLOGY; SIDE EFFECT; SJOEGREN LARSSON SYNDROME; SKIN INFLAMMATION; SYNDROME KID; TERATOGENESIS; TRICHOTHIODYSTROPHY; X LINKED ICHTHYOSIS;

ANTI-INFLAMMATORY AGENTS; DERMATOLOGIC AGENTS; DIAGNOSIS, DIFFERENTIAL; HUMANS; ICHTHYOSIS;

EID: 67449168305     PISSN: 16100379     EISSN: 16100387     Source Type: Journal    
DOI: 10.1111/j.1610-0387.2008.06969.x     Document Type: Review

References (39)

1. Traupe H. The ichthyoses. A guide to clinical diagnosis, genetic counseling, and therapy. Berlin : Springer, 1989.
2. Willan R. On cutaneous diseases. London : Barbard, 1808 : vol. 1, chap 4 (ichthyosis) : 197 212.
3. Williams ML, Elias PM. Genetically transmitted, generalized disorders of cornification. Dermatol Clin 1987 5 : 155 178.
4. Compton JG, DiGiovanna JJ, Johnston KA, Fleckman P, Bale SJ. Mapping of the associated phenotype of an absent granular layer in ichthyosis vulgaris to the epidermal differentiation complex on chromosome 1. Exp Dermatol 2002 11 (6 518 526. (Pubitemid 37009763)
5. Wells RS, Kerr CB. Clinical features of autosomal dominant and sex-linked ichthyosis in an English population. Br Med J 1966 1 : 947 950.
6. Smith FJ, Irvine AD, Terron-Kwiatkowski A, Sandilands A, Campbell LE, Zhao Y, Liao H, Evans AT, Goudie DR, Lewis-Jones S, Arseculeratne G, Munro CS, Sergeant A, O'Regan G, Bale SJ, Compton JG, Di-Giovanna JJ, Presland RB, Fleckman P, McLean WH. Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet 2006 38 (3 337 342. (Pubitemid 43315757)
7. Segre JA. Epidermal differentiation complex yields a secret: mutation in the cornification protein filaggrin underlie ichthyosis vulagris. J Invest Dermatol 2006 126 (6 1202 1204. (Pubitemid 43997893)
8. Palmer CN, Irvine AD, Terron-Kwiatkowski A, Zhao Y, Liao H, Lee SP, Goudie DR, Sandilands A, Campbell LE, Smith FJ, O'Regan G, Watson RM, Cecil JE, Bale SJ, Compton JG, DiGiovanna JJ, Fleckman P, Lewis-Jones S, Arseculeratne G, Sergeant A, Munro CS, El Houate B, McElreavey K, Halkjaer LB, Bisgaard H, Mukhopadhyay S, McLean WH. Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nat Genet 2006 38 (4 441 446.
9. Weidinger S, Illig T, Baurecht H, Irvine AD, Rodriguez E, Diaz-Lacava A, Klopp N, Wagenpfeil S, Zhao Y, Liao H, Lee SP, Palmer CN, Jenneck C, Maintz L, Hagemann T, Behrendt H, Ring J, Nothen MM, McLean WH, Novak N. Loss of function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations. J Allergy Clin Immunol 2006 118 (1 214 219. (Pubitemid 43949588)
10. Anton-Lamprecht I. Ultrastructure of inborn errors of keratinization. 3. Autosomal dominant ichthyosis vulgaris. Arch Dermatol Forsch 1973, 248 (2 149 172.
11. Fleckman P, Brumbaugh S. Absence of the granular layer and keratohyalin define a morphologically distinct subset of individuals with ichthyosis vulgaris. Exp Dermatol 2002, 11 : 327 336. (Pubitemid 36934663)
12. Lykkesfeld G, Hoyer H, Ibsen HH, Brandrup F. Steroid sulphatase deficiency disease. Clin Genet 1985 28 : 231 237. (Pubitemid 16244277)
13. Shapiro LJ, Weiss R, Buxman MM, Vidgoff J, Dimond RL, Roller JA, Wells RS. Enzymatic basis of typical X-linked ichthyosis. Lancet 1978 2 (8093 756 757. (Pubitemid 9034502)
14. Elias PM, Crumrine D, Rassner U, Hachem JP, Menon GK, Man W, Choy MH, Leypoldt L, Feingold KR, Williams ML. Basis for abnormal desquamation and permeability barrier dysfunction in RXLI. J Invest Dermatol 2004 122 (2 314 319. (Pubitemid 38281050)
15. Traupe H. Ichthyosen und verwandte Verhornungsstörungen. Versorgung, Klinik und Genetik. Hautarzt 2004 55 (10 931 941. (Pubitemid 39387942)
16. Anton-Lamprecht I. Ultrastructure of inborn errors of keratinization. IV. X-linked recessive ichthyosis. Arch Dermatol Forsch 1974, 248 (4 361 378.
17. Küster W. Verhornungsstörungen. In : Braun-Falco O, Plewig G, Wolff HH, Burgdorf WHC, Landthaler M (Hrsg Dermatologie und Venerologie. 5. Auflage. Berlin, Heidelberg, New York, Tokyo : Springer, 2006 : 738 762.
18. Paige DG, Emilion GG, Bouloux PM, Harper JI. A clinical and genetic study of X-linked recessive ichthyosis and contiguous gene defects. Br J Dermatol 1994 131 (5 622 629. (Pubitemid 24344045)
19. Blanco-Aguirre ME, Kofman-Alfaro SH, Rivera-Vega MR, Medina C, Valdes-Flores M, Rizzo WB, Cuevas-Covarrubias SA. Unusual clinical presentation in two cases of multiple sulfatase deficiency. Pediatr Dermatol 2001 18 (5 388 392. (Pubitemid 33070703)
20. Griffiths WAD, Judge MR, Leigh IM. Chapter 34: Disorders of keratinization. In : Rook A, Wilkinson DS, Ebling FJG (Hrsg) Textbook of Dermatology. Oxford : Blackwell Science, 1998 : Volume 2 : 1483 1588.
21. Refsum S. Heredopathia atactica polyneuritiformis. Acta Psychiatr Scand (Suppl) 1946 38 : 1 303.
22. Klenk E, Kahlke W. Über das Vorkommen der 3,7,11,15-Tetram- ethylhexadecansäure (Phytansäure) in den Cholesterinestern und anderen Lipoidfraktionen der Organe bei einem Krankheitsfall unbekannter Genese (Verdacht auf Heredopathia atactica polyneuritiformis, Refsum's syndrome). Hoppe Seyler Z Physiol Chem 1963 333 : 133.
23. Willis AJ, Manning NJ, Reilly MM. Refsum disease. Q J Med 2001 94 : 403 406.
24. Wierzbicki AS, Lloyd MD, Schofield CJ, Feher MD, Gibberd FB. Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation. J Neurochem 2002 80 (5 727 735.
25. van den Brink DM, Brites P, Haasjes J, Wierzbicki AS, Mitchell J, Lambert-Hamill M, de Belleroche J, Jansen GA, Waterham HR, Wanders RJ. Identification of PEX7 as the second gene involved in Refsum's disease. Am J Hum Genet 2003 72 (2 471 477. (Pubitemid 36194255)
26. DiGiovanna JJ, Robinson-Bostom L. Ichthyosis: etiology, diagnosis, and management. Am J Clin Dermatol 2003 4 (2 81 95. (Pubitemid 36259517)
27. Weinstein R. Phytanic acid storage disease (Refsum's disease): clinical characteristics, pathophysiology and the role of therapeutic apheresis in its management. J Clin Apher 1999 14 (4 181 184. (Pubitemid 30020638)
28. Anton-Lamprecht I und Kahlke W. Ultrastructure of inborn errors of keratinization. V. Ichthyosis in Refsum's syndrome (heredopathia atactica polyneuritiformis). Arch Dermatol Forsch 1974 250 (3 185 206.
29. Oji V, Traupe H. Ichthyoses: differential diagnosis and molecular genetics. Eur J Dermatol 2006 16 (4 349 359. (Pubitemid 44328973)
30. Sprecher E, Chavanas S, DiGiovanna JJ, Amin S, Nielsen K, Prendiville JS, Silverman R, Esterly NB, Spraker MK, Guelig E, de Luna ML Williams ML, Buehler B, Siegfried EC, Van Maldergem L, Pfendner E, Bale SJ, Uitto J, Hovnanian A, Richard G. The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis. J Invest Dermatol 2001 117 (2 179 187. (Pubitemid 34205699)
31. Möhrenschlager M, Rizzo WB, Kraus CS, Limbrock J, Cohen M, Anton-Lambrecht I, Abeck D, Ring J. Sögren-Larsson syndrome. Hautarzt 2000 51 (4 250 255.
32. Küster W. Ichthyosen: Vorschläge für eine verbesserte Therapie. Deutsches Ärzteblatt 2006 103 (24 1684 1689. (Pubitemid 44237605)
33. Beljan G, Traupe H, Metze D, Sunderkotter C. Comel-Netherton syndrome with bacterial superinfection. Hautarzt 2003 54 (12 1198 1202. (Pubitemid 37522367)
34. Oji V, Beljan G, Beier K, Traupe H, Luger TA. Topical pimecrolimus: a novel therapeutic option for Netherton syndrome. Br J Dermatol 2005 153 (5 1067 1068. (Pubitemid 41540783)
35. Akiyama M, Sugiyama-Nakagiri Y, Sakai K, McMillan JR, Goto M, Arita K, Tsuji-Abe Y, Tabata N, Matsuoka K, Sasaki R, Sawamura D, Shimizu H. Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer. J Clin Invest 2005 115 (7 1777 1784. (Pubitemid 40979716)
36. Yamanaka Y, Akiyama M, Sugiyama-Nakagiri Y, Sakai K, Goto M, McMillan JR, Ota M, Sawamura D, Shimizu H. Expression of the keratinocyte lipid transporter ABCA12 in developing and reconstituted human epidermis. Am J Pathol 2007 171 (1 43 52. (Pubitemid 47339225)
37. Choate KA, Medalie DA, Morgan JR, Khavari PA. Corrective gene transfer in the human skin disorder lamellar ichthyosis. Nat Med 1996 2 (11 1263 1267. (Pubitemid 26375415)
38. Haug S, Braun-Falco M. Restoration of fatty aldehyde dehydrogenase deficiency in Sjögren-Larsson syndrome. Gene Ther 2006 13 (13 1021 1026. (Pubitemid 43916288)
39. Gloerich J, Ijlst L, Wanders RJ, Ferdinandusse S. Bezafibrate induces FLDH in human fibroblasts; implications for Sjögren-Larsson syndrome. Mol Genet Metab 2006 89 (1-2 111 115. (Pubitemid 44226447)