X-Linked Ichthyosis Differential Diagnoses

  • Author: Camila K Janniger, MD; Chief Editor: Dirk M Elston, MD   more...
 
Updated: May 20, 2011
 
 

Differential Diagnoses

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Contributor Information and Disclosures
Author

Camila K Janniger, MD  Clinical Professor of Dermatology, Clinical Associate Professor of Pediatrics, Chief of Pediatric Dermatology, University of Medicine and Dentistry of New Jersey-New Jersey Medical School

Camila K Janniger, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Coauthor(s)

Robert A Schwartz, MD, MPH  Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, University of Medicine and Dentistry of New Jersey-New Jersey Medical School

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi

Disclosure: Nothing to disclose.

Specialty Editor Board

Bernice R Krafchik, MBChB, FRCPC  Professor Emeritus, Department of Pediatrics, Section of Dermatology, University of Toronto

Bernice R Krafchik, MBChB, FRCPC is a member of the following medical societies: American Academy of Dermatology, American Dermatological Association, Canadian Medical Association, College of Physicians and Surgeons of Ontario, Royal College of Physicians and Surgeons of Canada, and Society for Pediatric Dermatology

Disclosure: Nothing to disclose.

Richard P Vinson, MD  Assistant Clinical Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine; Consulting Staff, Mountain View Dermatology, PA

Richard P Vinson, MD is a member of the following medical societies: American Academy of Dermatology, Association of Military Dermatologists, Texas Dermatological Society, and Texas Medical Association

Disclosure: Nothing to disclose.

Van Perry, MD  Assistant Professor, Department of Medicine, Division of Dermatology, University of Texas School of Medicine at San Antonio

Van Perry, MD is a member of the following medical societies: American Academy of Dermatology and American Society for Laser Medicine and Surgery

Disclosure: Nothing to disclose.

Glen H Crawford, MD  Assistant Clinical Professor, Department of Dermatology, University of Pennsylvania School of Medicine; Chief, Division of Dermatology, The Pennsylvania Hospital

Glen H Crawford, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, Phi Beta Kappa, and Society of USAF Flight Surgeons

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD  Director, Department of Dermatology, Geisinger Medical Center

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

References

  1. Wells RS, Kerr CB. Genetic classification of ichthyosis. Arch Dermatol. Jul 1965;92(1):1-6. [Medline].

  2. Elias PM, Crumrine D, Rassner U, et al. Basis for abnormal desquamation and permeability barrier dysfunction in RXLI. J Invest Dermatol. Feb 2004;122(2):314-9. [Medline].

  3. Ramesh R, Bouloux P, Dorkins HR, Ellis R, Buch M, Batta K. Oral 4, X-linked ichthyosis with a contiguous gene defect in three successive generations. Br J Dermatol. Jun 2007;156(6):1404.

  4. Sugawara T, Shimizu H, Hoshi N, Fujimoto Y, Nakajima A, Fujimoto S. PCR diagnosis of X-linked ichthyosis: identification of a novel mutation (E560P) of the steroid sulfatase gene. Hum Mutat. Mar 2000;15(3):296. [Medline].

  5. Ghosh D. Mutations in X-linked ichthyosis disrupt the active site structure of estrone/DHEA sulfatase. Biochim Biophys Acta. Dec 24 2004;1739(1):1-4. [Medline].

  6. Ghosh D. Three-dimensional structures of sulfatases. Methods Enzymol. 2005;400:273-93. [Medline].

  7. Hosomi N, Oiso N, Fukai K, Hanada K, Fujita H, Ishii M. Deletion of distal promoter of VCXA in a patient with X-linked ichthyosis associated with borderline mental retardation. J Dermatol Sci. Jan 2007;45(1):31-6. [Medline].

  8. Canueto J, Ciria S, Hernandez-Martin A, Unamuno P, Gonzalez-Sarmiento R. Analysis of the STS gene in 40 patients with recessive X-linked ichthyosis: a high frequency of partial deletions in a Spanish population. J Eur Acad Dermatol Venereol. Mar 4 2010;[Medline].

  9. Canueto J, Ciria S, Hernandez-Martin A, et al. Analysis of the STS gene in 40 patients with recessive X-linked ichthyosis: a high frequency of partial deletions in a Spanish population. J Eur Acad Dermatol Venereol. Oct 2010;24(10):1226-9. [Medline].

  10. Winge MC, Hoppe T, Lieden A, et al. Novel point mutation in the STS gene in a patient with X-linked recessive ichthyosis. J Dermatol Sci. Apr 7 2011;[Medline].

  11. Toral-Lopez J, Gonzalez-Huerta LM, Cuevas-Covarrubias SA. Segregation analysis in X-linked ichthyosis: paternal transmission of the affected X-chromosome. Br J Dermatol. Apr 2008;158(4):818-20. [Medline].

  12. Craig WY, Roberson M, Palomaki GE, Shackleton CH, Marcos J, Haddow JE. Prevalence of steroid sulfatase deficiency in California according to race and ethnicity. Prenat Diagn. Sep 2010;30(9):893-8. [Medline].

  13. Ingordo V, D'Andria G, Gentile C, Decuzzi M, Mascia E, Naldi L. Frequency of X-linked ichthyosis in coastal southern Italy: a study on a representative sample of a young male population. Dermatology. 2003;207(2):148-50. [Medline].

  14. Fernandes NF, Janniger CK, Schwartz RA. X-linked ichthyosis: an oculocutaneous genodermatosis. J Am Acad Dermatol. Mar 2010;62(3):480-5. [Medline].

  15. Gonzalez-Huerta L, Mendiola-Jimenez J, Del Moral-Stevenel M, Rivera-Vega M, Cuevas-Covarrubias S. Atypical X-linked ichthyosis in a patient with a large deletion involving the steroid sulfatase (STS) gene. Int J Dermatol. Feb 2009;48(2):142-4. [Medline].

  16. Kempster RC, Hirst LW, de la Cruz Z, Green WR. Clinicopathologic study of the cornea in X-linked ichthyosis. Arch Ophthalmol. Mar 1997;115(3):409-15. [Medline].

  17. Haritoglou C, Ugele B, Kenyon KR, Kampik A. Corneal manifestations of X-linked ichthyosis in two brothers. Cornea. Nov 2000;19(6):861-3. [Medline].

  18. Brookes KJ, Hawi Z, Kirley A, Barry E, Gill M, Kent L. Association of the steroid sulfatase (STS) gene with attention deficit hyperactivity disorder. Am J Med Genet B Neuropsychiatr Genet. Dec 5 2008;147B(8):1531-5. [Medline].

  19. Schlotawa L, Steinfeld R, von Figura K, Dierks T, Gartner J. Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency. Hum Mutat. Jan 2008;29(1):205. [Medline].

  20. Artigalas OA, da Silva LR, Burin M, Pastores GM, et al. Multiple sulfatase deficiency: clinical report and description of two novel mutations in a Brazilian patient. Metab Brain Dis. Sep 2009;24(3):493-500. [Medline].

  21. Aviram-Goldring A, Goldman B, Netanelov-Shapira I, et al. Deletion patterns of the STS gene and flanking sequences in Israeli X-linked ichthyosis patients and carriers: analysis by polymerase chain reaction and fluorescence in situ hybridization techniques. Int J Dermatol. Mar 2000;39(3):182-7. [Medline].

  22. Zhu HY, Li HB, Wu LQ, et al. [Multiplex quantitative PCR detection for female carrier in an X-linked ichthyosis family]. Zhonghua Yi Xue Za Zhi. Dec 16 2008;88(46):3246-9. [Medline].

  23. Santolaya-Forgas J, Cohen L, Vengalil S, et al. Prenatal diagnosis of X-linked ichthyosis using molecular cytogenetics. Fetal Diagn Ther. Jan-Feb 1997;12(1):36-9. [Medline].

  24. 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. Aug 15 1997;272(33):20756-63. [Medline].

  25. Baleviciene G, Schwartz RA. Epidermolytic hyperkeratosis with ichthyosis hystrix. Cutis. Nov 2000;66(5):319-22. [Medline].

  26. Cuevas-Covarrubias SA, Valdes-Flores M, Orozco Orozco E, Diaz-Zagoya JC, Kofman-Alfaro SH. Most "sporadic" cases of X-linked ichthyosis are not de novo mutations. Acta Derm Venereol. Mar 1999;79(2):143-4. [Medline].

  27. Cuevas-Covarrubias SA, Valdes-Flores M, Rivera-Vega MR, Diaz-Zagoya JC, Kofman-Alfaro SH. Ichthyosis vulgaris and X-linked ichthyosis: simultaneous segregation in the same family. Acta Derm Venereol. Nov 1999;79(6):494-5. [Medline].

  28. Gohlke BC, Haug K, Fukami M, et al. Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy. J Med Genet. Aug 2000;37(8):600-2. [Medline].

  29. Morita E, Katoh O, Shinoda S, et al. A novel point mutation in the steroid sulfatase gene in X-linked ichthyosis. J Invest Dermatol. Aug 1997;109(2):244-5. [Medline].

  30. Nomura K, Nakano H, Umeki K, et al. A study of the steroid sulfatase gene in families with X-linked ichthyosis using polymerase chain reaction. Acta Derm Venereol. Sep 1995;75(5):340-2. [Medline].

  31. Robledo R, Melis P, Schillinger E, et al. X-linked ichthyosis without STS deficiency: clinical, genetical, and molecular studies. Am J Med Genet. Nov 6 1995;59(2):143-8. [Medline].

  32. Sugawara T, Nomura E, Hoshi N. Both N-terminal and C-terminal regions of steroid sulfatase are important for enzyme activity. J Endocrinol. Feb 2006;188(2):365-74. [Medline].

  33. Velez A, Moreno J. Poland's syndrome and recessive X-linked ichthyosis in two brothers. Clin Exp Dermatol. Jun 2000;25(4):308-11. [Medline].

  34. Voss M. Heterogeneity of X-linked ichthyosis. Am J Med Genet. Oct 31 1997;72(3):371. [Medline].

 
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Man with preauricular brownish scaling typical of X-linked ichthyosis.
Dirty scale in X-linked ichthyosis.
 
 
 
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