Medscape is available in 5 Language Editions – Choose your Edition here.


X-Linked Ichthyosis Treatment & Management

  • Author: Camila K Janniger, MD; Chief Editor: Dirk M Elston, MD  more...
Updated: Jun 22, 2016

Medical Care

Topical keratolytics, emollients, and hydrating agents are used to reduce scaling associated with X-linked ichthyosis[16] Topical retinoids may be beneficial. In a small study, the topical receptor-selective retinoid tazarotene was efficacious.

Patients often choose to use no therapy, although appearance-conscious adolescents and young adults may be eager and willing to treat themselves.


Surgical Care

In cases with cryptorchidism, consider surgical intervention if spontaneous descent has not occurred by age 1 year.



An ophthalmologist may detect corneal opacities. An obstetrician should be involved for higher risk delivery in future pregnancies.


Long-Term Monitoring

Address the risk for testicular carcinoma by monitoring X-linked ichthyosis (XLI) patients with periodic physical examinations.

Contributor Information and Disclosures

Camila K Janniger, MD Clinical Professor of Dermatology, Clinical Associate Professor of Pediatrics, Chief of Pediatric Dermatology, Rutgers New Jersey Medical School

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

Disclosure: Nothing to disclose.


Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, Rutgers New Jersey Medical School; Visiting Professor, Rutgers University School of Public Affairs and Administration

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

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

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

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

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

Disclosure: Nothing to disclose.

Additional Contributors

Joshua A Zeichner, MD Assistant Professor, Director of Cosmetic and Clinical Research, Mount Sinai School of Medicine; Chief of Dermatology, Institute for Family Health at North General

Joshua A Zeichner, MD is a member of the following medical societies: American Academy of Dermatology, National Psoriasis Foundation

Disclosure: Received consulting fee from Valeant for consulting; Received grant/research funds from Medicis for other; Received consulting fee from Galderma for consulting; Received consulting fee from Promius for consulting; Received consulting fee from Pharmaderm for consulting; Received consulting fee from Onset for consulting.

  1. Wells RS, Kerr CB. Genetic classification of ichthyosis. Arch Dermatol. 1965 Jul. 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. 2004 Feb. 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. 2007 Jun. 156(6):1404.

  4. Elias PM, Williams ML, Choi EH, Feingold KR. Role of cholesterol sulfate in epidermal structure and function: lessons from X-linked ichthyosis. Biochim Biophys Acta. 2014 Mar. 1841(3):353-61. [Medline]. [Full Text].

  5. Goodwin G, Hawley PP, Miller DT. A Case of HDR Syndrome and Ichthyosis: Dual Diagnosis by Whole-Genome Sequencing of Novel Mutations in GATA3 and STS Genes. J Clin Endocrinol Metab. 2016 Mar. 101 (3):837-40. [Medline].

  6. 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. 2000 Mar. 15(3):296. [Medline].

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

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

  9. 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. 2007 Jan. 45(1):31-6. [Medline].

  10. 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. 2010 Mar 4. [Medline].

  11. 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. 2010 Oct. 24(10):1226-9. [Medline].

  12. 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. 2011 Apr 7. [Medline].

  13. 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. 2008 Apr. 158(4):818-20. [Medline].

  14. 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. 2010 Sep. 30(9):893-8. [Medline].

  15. 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].

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

  17. 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. 2009 Feb. 48(2):142-4. [Medline].

  18. Hand JL, Runke CK, Hodge JC. The phenotype spectrum of X-linked ichthyosis identified by chromosomal microarray. J Am Acad Dermatol. 2015 Apr. 72 (4):617-27. [Medline].

  19. Das A, Mishra V, Shome K, Sen A. X-linked Ichthyosis Presenting as Erythroderma: A Rare Case. Indian J Dermatol. 2015 Sep-Oct. 60 (5):491-3. [Medline].

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

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

  22. 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. 2008 Dec 5. 147B(8):1531-5. [Medline].

  23. 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. 2008 Jan. 29(1):205. [Medline].

  24. 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. 2009 Sep. 24(3):493-500. [Medline].

  25. 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. 2000 Mar. 39(3):182-7. [Medline].

  26. 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. 2008 Dec 16. 88(46):3246-9. [Medline].

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

  28. Hung C, Ayabe RI, Wang C, Frausto RF, Aldave AJ. Pre-Descemet Corneal Dystrophy and X-Linked Ichthyosis Associated With Deletion of Xp22.31 Containing the STS Gene. Cornea. 2013 Sep. 32(9):1283-7. [Medline]. [Full Text].

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

Man with preauricular brownish scaling typical of X-linked ichthyosis.
Dirty scale in X-linked ichthyosis.
All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.