Journal of the American Academy of Dermatology
Volume 62, Issue 3 , Pages 480-485 , March 2010

X-linked ichthyosis: An oculocutaneous genodermatosis

  • Neil F. Fernandes, MD

      Affiliations

    • Dermatology, New Jersey Medical School, Newark, New Jersey
    • ,
  • Camila K. Janniger, MD

      Affiliations

    • Dermatology, New Jersey Medical School, Newark, New Jersey
    • Pediatrics, New Jersey Medical School, Newark, New Jersey
    • ,
  • Robert A. Schwartz, MD, MPH

      Affiliations

    • Dermatology, New Jersey Medical School, Newark, New Jersey
    • Pediatrics, New Jersey Medical School, Newark, New Jersey
    • Pathology, New Jersey Medical School, Newark, New Jersey
    • Corresponding Author InformationReprint requests: Robert A. Schwartz, MD, MPH, Dermatology, New Jersey Medical School, 185 South Orange Ave, Newark, NJ 07103.

References 

  1. Okulicz JF, Schwartz RA. Hereditary and acquired ichthyosis vulgaris. Int J Dermatol. 2003;42:95–98
  2. Wilan R. Ichthyosis. In: On cutaneous diseases. Vol 1. London: Barnard; 1808;197-212
  3. Shwayder T, Ott F. All about ichthyosis. Pediatr Clin North Am. 1991;38:835–857
  4. Wells RS, Kerr CB. Genetic classification of ichthyosis. Arch Dermatol. 1965;92:1–6
  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. Mevorah B, Frenk E, Müller CR, Ropers HH. X-linked recessive ichthyosis in three sisters: evidence for homozygosity. Br J Dermatol. 1981;105:711–717
  7. Thauvin-Robinet C, Lambert D, Vaillant G, Caillier P, Donzel A, Cusin V, et al. X-linked recessive ichthyosis in a girl: strategy for identifying the causal mechanism. Br J Dermatol. 2005;152:191–193
  8. Hernández-Martín A, González-Sarmiento R, De Unamuno P. X-linked ichthyosis: an update. Br J Dermatol. 1999;141:617–627
  9. Marinković-Ilsen A, Koppe JG, Jöbsis AC, de Groot WP. Enzymatic basis of typical X-linked ichthyosis. Lancet. 1978;2:1097
  10. Shapiro LJ, Weiss R, Buxman MM, Vidgoff J, Dimond RL, Roller JA, et al. Enzymatic basis of typical X-linked ichthyosis. Lancet. 1978;2:756–757
  11. Nussbaumer P, Billich A. Steroid sulfatase inhibitors. Med Res Rev. 2004;24:529–576
  12. Robledo R, Melis P, Schillinger E, Casciano I, Balazs I, Rinaldi A, et al. X-linked ichthyosis without STS deficiency: clinical, genetical, and molecular studies. Am J Med Genet. 1995;59:143–148
  13. Mohandas T, Shapiro LJ, Sparkes R, Sparkes MC. Regional assignment of the steroid sulfatase X-linked ichthyosis locus: implications for a non-inactivated region on the short arm of the human X chromosome. Proc Natl Acad Sci U S A. 1979;76:5779–5783
  14. Tiepolo L, Zuffardi O, Fraccaro M, di Natale D, Gargantini L, Müller CR, et al. Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223. Hum Genet. 1980;54:205–206
  15. Siegel DH, Sybert VP. Mosaicism in genetic skin disorders. Pediatr Dermatol. 2006;23:87–92
  16. Reed MJ, Purohit A, Woo LW, Newman SP, Potter BV. Steroid sulfatase: molecular biology, regulation, and inhibition. Endocr Rev. 2005;26:171–202
  17. Unamuno P, Santos C. Diagnostico de laboratorio de la ictiosis X. Piel. 1991;6:80–83
  18. Williams ML. Epidermal lipids and scaling diseases of the skin. Semin Dermatol. 1992;11:169–175
  19. Elias PM, Crumrine D, Rassner U, Hachem JP, Menon GK, Man W, et al. Basis for abnormal desquamation and permeability barrier dysfunction in RXLI. J Invest Dermatol. 2004;122:314–319
  20. Williams ML, Elias PM. Stratum corneum lipids in disorders of cornification: increased cholesterol sulfate content of stratum corneum in recessive x-linked ichthyosis. J Clin Invest. 1981;68:1404–1410
  21. Shwayder T. Disorders of keratinization: diagnosis and management. Am J Clin Dermatol. 2004;5:17–29
  22. DiGiovanna JJ, Robinson-Bostom L. Ichthyosis: etiology, diagnosis, and management. Am J Clin Dermatol. 2003;4:81–95
  23. Bradshaw KD, Carr BR. Placental sulfatase deficiency: maternal and fetal expression of steroid sulfatase deficiency and X-linked ichthyosis. Obstet Gynecol Surv. 1986;41:401–413
  24. Hazan C, Orlow SJ, Schaffer JV. X-linked recessive ichthyosis. Dermatol Online J. 2005;11:12
  25. Delfino M, De Ritis G, Fabbrocini G, Procaccini EM, Illiano GM, Piccirillo A. Sweat gland function in patients with X-linked ichthyosis. Recenti Prog Med. 1991;82:677–678
  26. Jay B, Blach RK, Wells RS. Ocular manifestations of ichthyosis. Br J Ophthalmol. 1968;52:217–226
  27. Messmer EM, Kenyon KR, Rittinger O, Janecke AR, Kampik A. Ocular manifestations of keratitis-ichthyosis-deafness (KID) syndrome. Ophthalmology. 2005;112:e1–e6
  28. Traboulsi E, Waked N, Mégarbané H, Mégarbané A. Ocular findings in ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome. Ophthalmic Genet. 2004;25:153–156
  29. Haritoglou C, Ugele B, Kenyon KR, Kampik A. Corneal manifestations of X-linked ichthyosis in two brothers. Cornea. 2000;19:861–863
  30. Costagliola C, Fabbrocini G, Illiano GM, Scibelli G, Delfino M. Ocular findings in X-linked ichthyosis: a survey on 38 cases. Ophthalmologica. 1991;202:152–155
  31. Piccirillo A, Auricchio L, Fabbrocini G, Parenti G, Ballabio A, Delfino M. Ocular findings and skin histology in a group of patients with X-linked ichthyosis. Br J Dermatol. 1988;119:185–188
  32. Traupe H. The ichthyoses: a guide to clinical diagnosis, genetic counseling, and therapy. Berlin: Springer-Verlag; 1989;
  33. von Eyben FE. Chromosomes, genes, and development of testicular germ cell tumors. Cancer Genet Cytogenet. 2004;151:93–138
  34. Lykkesfeldt G. Høyer H, Lykkesfeldt AE, Skakkebaek NE. Steroid sulphatase deficiency associated with testis cancer. Lancet. 1983;2:1456
  35. Traupe H, Happle R. Mechanisms in the association of cryptorchidism and X-linked recessive ichthyosis. Dermatologica. 1986;172:327–328
  36. Ozawa H, Osawa M, Nagai T, Sakura N. Steroid sulfatase deficiency with bilateral periventricular nodular heterotopia. Pediatr Neurol. 2006;34:239–241
  37. Mallory SB, Kletzel M, Turley CP. X-linked ichthyosis with acute lymphoblastic leukemia. Arch Dermatol. 1988;124:22–24
  38. Richard G. Molecular genetics of the ichthyoses. Am J Med Genet C Semin Med Genet. 2004;131C:32–44
  39. Matsukura H, Fuchizawa T, Ohtsuki A, Higashiyama H, Higuchi O, Higuchi A, et al. End-stage renal failure in a child with X-linked ichthyosis. Pediatr Nephrol. 2003;18:297–300
  40. Rud E. Et Tilfælde af Infantilismus med Tetani, Epilepsy, Polyneuritis, Ichtiosis og Anæmia af Pernicios type. Hospitalstidende. 1927;70:525–538
  41. Curry CJ, Magenis RE, Brown M, Lanman JT, Tsai J, O'Lague P, et al. Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome. N Engl J Med. 1984;311:1010–1015
  42. Kashork CD, Sutton VR, Fonda Allen JS, Schmidt DE, Likhite ML, Potocki L, et al. Low or absent unconjugated estriol in pregnancy: an indicator for steroid sulfatase deficiency detectable by fluorescence in situ hybridization and biochemical analysis. Prenat Diagn. 2002;22:1028–1032
  43. Ballabio A, Ranier JE, Chamberlain JS, Zollo M, Caskey CT. Screening for steroid sulfatase (STS) gene deletions by multiplex DNA amplification. Hum Genet. 1990;84:571–573
  44. Basler E, Grompe M, Parenti G, Yates J, Ballabio A. Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis. Am J Hum Genet. 1992;50:438–491
  45. Morita E, Katoh O, Shinoda S, Hiragun T, Tanaka T, Kameyoshi Y, et al. A novel point mutation in the steroid sulfatase gene in X-linked ichthyosis. J Invest Dermatol. 1997;109:244–245
  46. Alperin ES, Shapiro LJ. Characterization of point mutations in patients with X-linked ichthyosis: effects on the structure and function of the steroid sulfatase protein. J Biol Chem. 1997;272:20756–20763
  47. Oji V, Traupe H. Ichthyoses: differential diagnosis and molecular genetics. Eur J Dermatol. 2006;16:349–359
  48. Schwartz RA, Williams ML. Acquired ichthyosis: a marker for internal disease. Am Fam Physician. 1984;29:181–184
  49. Shwayder T. Ichthyosis in a nutshell. Pediatr Rev. 1999;20:5–12
  50. Gånemo A, Sjöden PO, Johansson E, Vahlquist A, Lindberg M. Health-related quality of life among patients with ichthyosis. Eur J Dermatol. 2004;14:61–66
  51. Phipps A. Disorders of cornification: the multiplex presentation of ichthyosis. J Am Osteopath Coll Dermatol. 2004;1:8–12
  52. Goldsmith LA, Baden HP. Propylene glycol with occlusion for treatment of ichthyosis. JAMA. 1972;220:579–580
  53. Lykkesfeldt G. Høyer H. Topical cholesterol treatment of recessive X-linked ichthyosis. Lancet. 1983;2:1337–1338
  54. Williams ML, Elias PM. Enlightened therapy of the disorders of cornification. Clin Dermatol. 2003;21:269–273
  55. Siegfried EC. Neonatal skin and skin care. Dermatol Clin. 1998;16:437–446
  56. Thomas JR, Doyle JA. The therapeutic uses of topical vitamin A acid. J Am Acad Dermatol. 1981;4:505–513
  57. Haas AA, Arndt KA. Selected therapeutic applications of topical tretinoin. J Am Acad Dermatol. 1986;15:870–877
  58. Frost P, Weinstein GD. Topical administration of vitamin A acid for ichthyosiform dermatoses and psoriasis. JAMA. 1969;207:1863–1868
  59. Muller SA, Belcher RW, Esterly NB, Lochner . JC, Miller JS, Roenigk H Jr, Weissman L. Keratinizing dermatoses: combined data from four centers on short-term topical treatment with tretinoin. Arch Dermatol. 1977;113:1052–1054
  60. Hofmann B, Stege H, Ruzicka T, Lehmann P. Effect of topical tazarotene in the treatment of congenital ichthyoses. Br J Dermatol. 1999;141:642–646
  61. Nguyen V, Cunningham BB, Eichenfield LF, Alió AB, Buka RL. Treatment of ichthyosiform diseases with topically applied tazarotene: risk of systemic absorption. J Am Acad Dermatol. 2007;57(Suppl):S123–S125
  62. Freiberg RA, Choate KA, Deng H, Alperin ES, Shapiro LJ, Khavari PA. A model of corrective gene transfer in X-linked ichthyosis. Hum Mol Genet. 1997;6:927–933
  63. Jensen TG, Jensen UB, Jensen PK, Ibsen HH, Brandrup F, Ballabio A, et al. Correction of steroid sulfatase deficiency by gene transfer into basal cells of tissue-cultured epidermis from patients with recessive X-linked ichthyosis. Exp Cell Res. 1993;209:392–397

 Funding sources: None.

 Conflicts of interest: None declared.

PII: S0190-9622(09)00502-7

doi: 10.1016/j.jaad.2009.04.028

Journal of the American Academy of Dermatology
Volume 62, Issue 3 , Pages 480-485 , March 2010

Article Tools

* Image Usage & Resolution