Ichthyosis — an inborn dryness and scaliness of the skin

Dry Skin and Moisturizers: Chemistry and Function, Second Edition

Volumn , Issue , 2005, Pages 83-94

  Vahlquist, Anders ^a  

^a UPPSALA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 70049089396     PISSN: None     EISSN: None     Source Type: Book    
DOI: None     Document Type: Chapter

References (51)

1. DiGiovanna, J.J. and Robinson-Bostom, L., Ichthyosis: etiology, diagnosis and management, Am. J. Clin. Dermatol., 4, 81, 2003.
2. Khavari, P.A., Rollman, O., and Vahlquist, A., Cutaneous gene transfer for skin and systemic diseases, J. Intern. Med., 252, 1-10, 2002.
3. Wells, R. and Kerr, C., Clinical features of autosomal dominant and sex-linked ichthyosis in an English population, Br. Med. J., 54, 947, 1966.
4. Vahlquist, A., Ganemo, A., Pigg, M., Virtanen, M., and Westermark, P., The clinical spectrum of congenital ichthyosis in Sweden: a review of 127 cases, Acta Derm. Venereol., Suppl. 213, 34-47, 2003.
5. Shapiro, L. and Weiss, R., X-linked ichthyosis due to steroid sulfatase deficiency, Lancet, 14, 70, 1978.
6. Bousema, M., van Diggelen, O., van Joost, T., Stolz, E., and Naafs, F., Ichthyosis: reliability of clinical signs in the differentiation between autosomal dominant and sex-linked forms, Int. J. Dermatol., 28, 240, 1989.
7. Sybert, V., Dale, B., and Holbrook, K., Ichthyosis vulgaris: identification of a defect in synthesis of filaggrin correlated with an absence of keratohyaline granules, J. Invest. Dermatol., 84, 191, 1985.
8. Anton-Lamprecht, I., Ultrastructural identification of basic abnormalities as clues to genetic disorders of the epidermis, J. Invest. Dermatol., 103, 6S, 1994.
9. Nirunsuksiri, W., Presland, R.B., Brumbaugh, S.G., Dale, B.A., and Fleckman, P., Decreased profil-aggrin expression in ichthyosis vulgaris is a result of selectively impaired posttranscriptional control, J. Biol. Chem., 270, 871, 1995.
10. Fleckman, P. and Brumbaigh, S., Absence of the granular layer and keratohyaline define a morphologically distinct subset of individuals with ichthyosis vulgaris, Exp. Dermatol., 11, 327, 2002.
11. Ibsen, H., Brandrup, F., Blaabjerg, I., and Lykkesfeldt, G., Lipoprotein electrophoresis in recessive x-linked ichthyosis, Acta Derm. Venereol., 66, 59, 1986.
12. Scott, I., Harding, C., and Barrett, J., Histidine-rich protein of the keratohyalin granules: source of the free amino acids, urocanic acid and pyrrolidone carboxylic acid in the stratum corneum, Biochim. Biophys. Acta, 719, 110, 1982.
13. Elias, P., Crumrine, D., Rassner, U., Hachem, J.-P., Menon, G.K., Man, W., Hoi Wun Choy, M., Leypoldt, L., Feingold, K.R., and Williams, M.L., Basis for abnormal desquamation and permeability barrier dysfunction in RXLI, J. Invest. Dermatol., 122, 314, 2004.
14. Lavrijsen, A., Oestmann, E., Hermans, J., Bodde, H., Vermeer, B., and Ponec, M., Barrier function parameters in various keratinzation disorders: transepidermal water loss and vascular response to hexyl nicotinate, Br J. Dermatol., 129, 547, 1993.
15. Zettersten, E., Man, M.-Q., Sato, J., Denda, M., Farrell, A., Ghadially, R., Williams, M., Feingold, K., and Elias, P., Recessive x-linked ichthyosis: role of cholesterol sulfate accumualtion in the barrier abnormality, J. Invest. Dermatol., 111, 784, 1998.
16. Sato, J., Denda, M., Nakanishi, J., Nomura, J., and Koyama, J., Cholesterol sulfate inhibits proteases that are involved in desquamation of stratum corneum, J. Invest. Dermatol., 111, 189, 1998.
17. Öhman, H. and Vahlquist, A., The pH gradient over the stratum corneum differs in x-linked recessive and autosomal dominant ichthyosis: a clue to the molecular origin of the acid skin mantle?, J. Invest. Dermatol., 111, 674, 1998.
18. Hachem, J.-P., Crumrine, D., Fluhr, J., Brown, B.E., Feingold, K.R., and Elias, P.M., pH directly regulates epidermal permeability barrier homeostasis, and stratum corneum integrity/cohesion, J. Invest. Dermatol., 121, 345-353, 2003.
19. Lykkesfeldt, G. and Hoyer, H., Topical cholesterol treatment of recessive x-linked ichthyosis, Lancet, 2, 1337, 1983.
20. Swanbeck, G., A new treatment of ichthyosis and other hyperkeratotic conditions, Acta Derm. Venereol., 48, 123, 1968.
21. van Scott, E. and Yu, R., Control of keratinization with alpha-hydroxy acids and related compounds, Arch. Dermatol., 110, 586, 1974.
22. Williams, H. et al., Evidence-Based Dermatology. BMJ Publishing Group, London, 2003.
23. Küster, W., Bohnsack, K., Rippke, F., Upmeyer, H., Groll, S., and Traupe, H., Efficacy of urea therapy in children with ichthyosis, Dermatol., 196, 217, 1998.
24. Huber, M., Rettle, I., Berbasconi, K., Frenk, E., Lavrijsen, S., Ponec, M., Bon, A., Lautenschlager, S., Schorderet, D., and Hohl, D., Mutations of keratinocyte transglutaminase in lamellar ichthyosis, Science, 267, 525, 1995.
25. Ishida-Yamamoto, A. and Iizuka, H., Structural organization of cornified cell envelopes and alterations in inherited skin disorders, Exp. Dermatol., 7, 1-10, 1998.
26. Ganemo, A., Pigg, M., Virtanen, M., Kukk, T., Raudsepp, H., Rossman-Ringdahl, I., Westermerk, P., Niemi, K., Dahl, N., and Vahlquist, A., Autosomal recessive congenital ichthyosis in Sweden and Estonia: clinical, ultrastructural and genetic findings in 83 patients, Acta Derm. Venereol., 83, 24-30, 2003.
27. Parmentier, L., Lakhdar, H., Blanchet-Bardon, C., Marchand, S., Dubertret, L., and Weissenbach, J., Mapping of a second locus for lamellar ichthyosis to chromosome 2q33-35, Hum. Mol. Genet., 5, 555, 1996.
28. Jobard, F. et al., Lipozygenase-3 (ALOXE3) and 12®-lipoxygenase (ALOX12B) are mutated in nonbullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1, Hum. Molec. Genet., 11, 107-113, 2002.
29. Vahlquist, A., Role of retinoids in normal and diseased skin, in Vitamin A: in Health and Disease, Blomhoff, R., Ed., Marcel Dekker, Inc., New York, 1994, p. 365.
30. Van Gysel, D., Lijnen, R.L.P., Moekti, S.S., de Laat, P.C.J., and Oranjet, A.P., Collodion baby: a follow-up study of 17 cases. J. Eur. Acad. Dermatol. Venereol., 16, 472-475, 2003.
31. Ganemo, A., Virtanen, M., and Vahlquist, A., Improved topical treatment of lamellar ichthyosis: a double-blind study of four different cream mixtures, Br. J. Dermatol., 141, 1027, 1999.
32. Stege, H., Hofmann, B., Ruzicka, T., and Lehmann, P., Topical application of tazarotene in the treatment of nonerythrodermic lamellar ichthyosis, Arch. Dermatol., 134, 640, 1998.
33. Redondo, P. and Bauza, A., Topical N-acetylcysteine for lamellar ichthyosis, Lancet, 354, 1880, 1999.
34. van Wauwe, J., Vannyen, G., Coene, M.C., Stoppie, P., Cools, W., Goossens, J., Borghgraef, P., and Janssen, P.A.J., Liarozole, an inhibitor of retinoic acid metabolism, exerts retinoid-mimetic effects in vivo, J. Pharmacol. Exp. Ther., 261, 773, 1992.
35. Van de Kerkhof, P.C.M., Biological activity of vitamin D analogues in the skin, with special reference to antipsoriatic mechanisms, Br. J. Dermatol., 132, 675, 1995.
36. Kiistala, R., Lauharanta, J., and Kanerva, L., Transepidermal water loss and sweat gland response in lamellar ichthyosis before and during treatment with etretinate: report of three cases, Acta Derm. Venereol., 62, 268, 1982.
37. Fuchs, E. and Cleveland, D.W., A structural scaffolding of intermediate filaments in health and disease, Science, 279, 514, 1998.
38. Smith, F.J.D., The molecular genetics of keratin disorders, Am. J. Clin. Dermatol., 4, 347-364, 2003.
39. Steijlen, P.M., Vandoorengreebe, R.J., Happle, R., and Vandekerkhof, P.C.M., Ichthyosis bullosa of Siemens responds well to low-dosage oral retinoids, Br. J. Dermatol., 125, 469, 1991.
40. Virtanen, M., Gedde-Dahl, T., Mork, N.-J., Leigh, I., Bowden, P.E., and Vahlquist, A., Phenotypic/genotypic correlations in patients with epidermolytic hyperkeratosis and the effects of retinoid therapy on keratin expression, Acta Derm. Venereol., 81, 163-170, 2001.
41. Chavanas, S. et al., Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome, Nat. Genet., 25, 141-142, 2000.
42. Van Gysel, D., Koning, H., Basert, M.R.M., Savelkoul, H.F.J., Neijens, H.J., and Oranje, A.P., Clinico-Immunological heterogeneity in Comel-Netherton Syndrome, Dermatol., 202, 99-107, 2001.
43. Sakuntabhai, A., Ruiz-Perez, V., Carter, S., Jacobsen, N., Burge, S., Monk, S., Smith, M., Munro, C.S., O’Donovan, M., Craddock, N., Kucherlapati, R., Rees, J.L., Owen, M., Lathrop, M., Monaco, A.P., Strachan, T., and Hovnanian, A., Mutations in ATP2A2, encoding a Ca pump, cause Darier disease, Nat. Genet., 21, 271, 1999.
44. DeLaurenzi, V. et al., Sjogren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrognease gene, Nat. Genet., 12, 52, 1996.
45. Herndon, J., Steinberg, D., and Uhlendorf, B., Refsum’s disease: defective oxidation of phytanic acid in tissue cultures derived from homozygotes and heterozygotes, N. Engl. J. Med., 281, 1034, 1969.
46. Jagell, S. and Liden, S., Treatment of the ichthyosis of the Sjogren-Larsson syndrome with etretinate (Tigason®), Acta Derm. Venereol., 63, 89-91, 1983.
47. Kiguchi, K., Kagehara, M., Higo, R., Iwamori, M., and DiGiovanni, J., Alterations in cholesterol sulfate and its biosynthetic enzyme during multistage carcinogenesis in mouse skin, J. Invest. Dermatol., 111, 973, 1999.
48. Chida, K., Murakami, A., Tagawa, T., Ikuta, T., and Kuroki, T., Cholesterol sulfate, a second messenger for the n isoform of protein kinase C, inhibits promotional phase in mouse skin carcinogenesis, Cancer Res., 55, 4865, 1995.
49. Denning, M., Kazanietz, M., Blumber, P., and Yuspa, S., Cholesterol sulfate activates multiple protein kinase C isoenzymes and induces granular cell differenation in culture murine keratinoyctes, Cell Growth Differ., 6, 1619, 1995.
50. Kawabe, S., Ikuta, T., Ohba, M., Chida, K., Ueda, E., Yamanishi, K., and Kuroki, T., Cholesterol sulfate activates transcription of transglutaminase 1 gene in normal human keratinocytes, J. Invest. Dermatol., 111, 1098, 1998.
51. Jetten, A., George, M., and Rearick, J., Down-regulation of squamous cell-specific markers by retinoids: transglutaminase 1 and cholesterol sulfotransferase, Meth. Enzymol., 190, 42, 1990.