X-linked ichthyosis: An oculocutaneous genodermatosis

Journal of the American Academy of Dermatology

Volumn 62, Issue 3, 2010, Pages 480-485

  Fernandes, Neil F ^a   Janniger, Camila K ^a   Schwartz, Robert A ^a  

^a RUTGERS NEW JERSEY MEDICAL SCHOOL   (United States)

Author keywords

genodermatosis; hyperkeratosis; ichthyosis; X linked

Indexed keywords

2 HYDROXYACID; CHOLESTEROL; GLYCOLIC ACID; ISOTRETINOIN; KERATOLYTIC AGENT; LACTIC ACID; PROPYLENE GLYCOL; RETINOIC ACID; RETINOID; SALICYLIC ACID; STERYL SULFATASE; TAZAROTENE; UREA;

CHEMICAL ANALYSIS; CHONDRODYSPLASIA PUNCTATA; CORNEA OPACITY; CRYPTORCHISM; DESQUAMATION; DRUG EFFICACY; ENZYME ACTIVITY; EPILEPSY; GENETIC ANALYSIS; GENETIC COUNSELING; GENODERMATOSIS; HUMAN; HUMIDIFIER; HYDRATION; HYPERKERATOSIS; KERATOLYSIS; LIFE; LUBRICATION; MENTAL DEFICIENCY; MULTIPLE SULFATASE DEFICIENCY; PRIORITY JOURNAL; QUALITY OF LIFE; REVIEW; SKIN MANIFESTATION; TOPICAL TREATMENT; TRUNK; X LINKED ICHTHYOSIS;

ADMINISTRATION, TOPICAL; FEMALE; HUMANS; ICHTHYOSIS, X-LINKED; INFANT; INFANT, NEWBORN; KERATOLYTIC AGENTS; LUBRICATION; MALE; PREGNANCY; SKIN;

EID: 76349088490     PISSN: 01909622     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaad.2009.04.028     Document Type: Review

References (63)

1. Okulicz J.F., and Schwartz R.A. Hereditary and acquired ichthyosis vulgaris. Int J Dermatol 42 (2003) 95-98
2. Wilan R. Ichthyosis. On cutaneous diseases. Vol 1 (1808), Barnard, London 197-212
3. Shwayder T., and Ott F. All about ichthyosis. Pediatr Clin North Am 38 (1991) 835-857
4. Wells R.S., and Kerr C.B. Genetic classification of ichthyosis. Arch Dermatol 92 (1965) 1-6
5. Wells R.S., and Kerr C.B. Clinical features of autosomal dominant and sex-linked ichthyosis in an English population. Br Med J 1 (1966) 947-950
6. Mevorah B., Frenk E., Müller C.R., and Ropers H.H. X-linked recessive ichthyosis in three sisters: evidence for homozygosity. Br J Dermatol 105 (1981) 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 152 (2005) 191-193
8. Hernández-Martín A., González-Sarmiento R., and De Unamuno P. X-linked ichthyosis: an update. Br J Dermatol 141 (1999) 617-627
9. Marinković-Ilsen A., Koppe J.G., Jöbsis A.C., and de Groot W.P. Enzymatic basis of typical X-linked ichthyosis. Lancet 2 (1978) 1097
10. Shapiro L.J., Weiss R., Buxman M.M., Vidgoff J., Dimond R.L., Roller J.A., et al. Enzymatic basis of typical X-linked ichthyosis. Lancet 2 (1978) 756-757
11. Nussbaumer P., and Billich A. Steroid sulfatase inhibitors. Med Res Rev 24 (2004) 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 59 (1995) 143-148
13. Mohandas T., Shapiro L.J., Sparkes R., and Sparkes M.C. 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 76 (1979) 5779-5783
14. Tiepolo L., Zuffardi O., Fraccaro M., di Natale D., Gargantini L., Müller C.R., et al. Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223. Hum Genet 54 (1980) 205-206
15. Siegel D.H., and Sybert V.P. Mosaicism in genetic skin disorders. Pediatr Dermatol 23 (2006) 87-92
16. Reed M.J., Purohit A., Woo L.W., Newman S.P., and Potter B.V. Steroid sulfatase: molecular biology, regulation, and inhibition. Endocr Rev 26 (2005) 171-202
17. Unamuno P., and Santos C. Diagnostico de laboratorio de la ictiosis X. Piel 6 (1991) 80-83
18. Williams M.L. Epidermal lipids and scaling diseases of the skin. Semin Dermatol 11 (1992) 169-175
19. Elias P.M., Crumrine D., Rassner U., Hachem J.P., Menon G.K., Man W., et al. Basis for abnormal desquamation and permeability barrier dysfunction in RXLI. J Invest Dermatol 122 (2004) 314-319
20. Williams M.L., and Elias P.M. Stratum corneum lipids in disorders of cornification: increased cholesterol sulfate content of stratum corneum in recessive x-linked ichthyosis. J Clin Invest 68 (1981) 1404-1410
21. Shwayder T. Disorders of keratinization: diagnosis and management. Am J Clin Dermatol 5 (2004) 17-29
22. DiGiovanna J.J., and Robinson-Bostom L. Ichthyosis: etiology, diagnosis, and management. Am J Clin Dermatol 4 (2003) 81-95
23. Bradshaw K.D., and Carr B.R. Placental sulfatase deficiency: maternal and fetal expression of steroid sulfatase deficiency and X-linked ichthyosis. Obstet Gynecol Surv 41 (1986) 401-413
24. Hazan C., Orlow S.J., and Schaffer J.V. X-linked recessive ichthyosis. Dermatol Online J 11 (2005) 12
25. Delfino M., De Ritis G., Fabbrocini G., Procaccini E.M., Illiano G.M., and Piccirillo A. Sweat gland function in patients with X-linked ichthyosis. Recenti Prog Med 82 (1991) 677-678
26. Jay B., Blach R.K., and Wells R.S. Ocular manifestations of ichthyosis. Br J Ophthalmol 52 (1968) 217-226
27. Messmer E.M., Kenyon K.R., Rittinger O., Janecke A.R., and Kampik A. Ocular manifestations of keratitis-ichthyosis-deafness (KID) syndrome. Ophthalmology 112 (2005) e1-e6
28. Traboulsi E., Waked N., Mégarbané H., and Mégarbané A. Ocular findings in ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome. Ophthalmic Genet 25 (2004) 153-156
29. Haritoglou C., Ugele B., Kenyon K.R., and Kampik A. Corneal manifestations of X-linked ichthyosis in two brothers. Cornea 19 (2000) 861-863
30. Costagliola C., Fabbrocini G., Illiano G.M., Scibelli G., and Delfino M. Ocular findings in X-linked ichthyosis: a survey on 38 cases. Ophthalmologica 202 (1991) 152-155
31. Piccirillo A., Auricchio L., Fabbrocini G., Parenti G., Ballabio A., and Delfino M. Ocular findings and skin histology in a group of patients with X-linked ichthyosis. Br J Dermatol 119 (1988) 185-188
32. Traupe H. The ichthyoses: a guide to clinical diagnosis, genetic counseling, and therapy (1989), Springer-Verlag, Berlin
33. von Eyben F.E. Chromosomes, genes, and development of testicular germ cell tumors. Cancer Genet Cytogenet 151 (2004) 93-138
34. Lykkesfeldt G. Høyer H, Lykkesfeldt AE, Skakkebaek NE. Steroid sulphatase deficiency associated with testis cancer. Lancet 2 (1983) 1456
35. Traupe H., and Happle R. Mechanisms in the association of cryptorchidism and X-linked recessive ichthyosis. Dermatologica 172 (1986) 327-328
36. Ozawa H., Osawa M., Nagai T., and Sakura N. Steroid sulfatase deficiency with bilateral periventricular nodular heterotopia. Pediatr Neurol 34 (2006) 239-241
37. Mallory S.B., Kletzel M., and Turley C.P. X-linked ichthyosis with acute lymphoblastic leukemia. Arch Dermatol 124 (1988) 22-24
38. Richard G. Molecular genetics of the ichthyoses. Am J Med Genet C Semin Med Genet 131C (2004) 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 18 (2003) 297-300
40. Rud E. Et Tilfælde af Infantilismus med Tetani, Epilepsy, Polyneuritis, Ichtiosis og Anæmia af Pernicios type. Hospitalstidende 70 (1927) 525-538
41. Curry C.J., Magenis R.E., Brown M., Lanman Jr. J.T., 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 311 (1984) 1010-1015
42. Kashork C.D., Sutton V.R., Fonda Allen J.S., Schmidt D.E., Likhite M.L., 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 22 (2002) 1028-1032
43. Ballabio A., Ranier J.E., Chamberlain J.S., Zollo M., and Caskey C.T. Screening for steroid sulfatase (STS) gene deletions by multiplex DNA amplification. Hum Genet 84 (1990) 571-573
44. Basler E., Grompe M., Parenti G., Yates J., and Ballabio A. Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis. Am J Hum Genet 50 (1992) 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 109 (1997) 244-245
46. Alperin E.S., and Shapiro L.J. Characterization of point mutations in patients with X-linked ichthyosis: effects on the structure and function of the steroid sulfatase protein. J Biol Chem 272 (1997) 20756-20763
47. Oji V., and Traupe H. Ichthyoses: differential diagnosis and molecular genetics. Eur J Dermatol 16 (2006) 349-359
48. Schwartz R.A., and Williams M.L. Acquired ichthyosis: a marker for internal disease. Am Fam Physician 29 (1984) 181-184
49. Shwayder T. Ichthyosis in a nutshell. Pediatr Rev 20 (1999) 5-12
50. Gånemo A., Sjöden P.O., Johansson E., Vahlquist A., and Lindberg M. Health-related quality of life among patients with ichthyosis. Eur J Dermatol 14 (2004) 61-66
51. Phipps A. Disorders of cornification: the multiplex presentation of ichthyosis. J Am Osteopath Coll Dermatol 1 (2004) 8-12
52. Goldsmith L.A., and Baden H.P. Propylene glycol with occlusion for treatment of ichthyosis. JAMA 220 (1972) 579-580
53. Lykkesfeldt G. Høyer H. Topical cholesterol treatment of recessive X-linked ichthyosis. Lancet 2 (1983) 1337-1338
54. Williams M.L., and Elias P.M. Enlightened therapy of the disorders of cornification. Clin Dermatol 21 (2003) 269-273
55. Siegfried E.C. Neonatal skin and skin care. Dermatol Clin 16 (1998) 437-446
56. Thomas J.R., and Doyle J.A. The therapeutic uses of topical vitamin A acid. J Am Acad Dermatol 4 (1981) 505-513
57. Haas A.A., and Arndt K.A. Selected therapeutic applications of topical tretinoin. J Am Acad Dermatol 15 (1986) 870-877
58. Frost P., and Weinstein G.D. Topical administration of vitamin A acid for ichthyosiform dermatoses and psoriasis. JAMA 207 (1969) 1863-1868
59. Muller S.A., Belcher R.W., Esterly N.B., and 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 113 (1977) 1052-1054
60. Hofmann B., Stege H., Ruzicka T., and Lehmann P. Effect of topical tazarotene in the treatment of congenital ichthyoses. Br J Dermatol 141 (1999) 642-646
61. Nguyen V., Cunningham B.B., Eichenfield L.F., Alió A.B., and Buka R.L. Treatment of ichthyosiform diseases with topically applied tazarotene: risk of systemic absorption. J Am Acad Dermatol 57 Suppl (2007) S123-S125
62. Freiberg R.A., Choate K.A., Deng H., Alperin E.S., Shapiro L.J., and Khavari P.A. A model of corrective gene transfer in X-linked ichthyosis. Hum Mol Genet 6 (1997) 927-933
63. Jensen T.G., Jensen U.B., Jensen P.K., Ibsen H.H., 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 209 (1993) 392-397