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Diseases

Ichthyosis

OVERVIEW

  • Highlights & Basics
  • Images

DIAGNOSIS

  • Diagnostic Approach
  • Risk Factors
  • History & Exam
  • Tests
  • Differential Diagnosis
  • Criteria
  • Screening

TREATMENT

  • Tx Approach
  • Tx Options
  • Emerging Tx
  • Prevention

FOLLOW-UP

  • Overview
  • Complications

REFERENCES

  • Citations
  • Guidelines
  • Credits

PATIENT RESOURCES

  • Patient Instructions

Highlights & Basics

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Key Highlights
  • Ichthyosis is a descriptive term for dry, scaly skin.

  • Inherited congenital ichthyoses are a heterogeneous group of disorders. Clinically they are characterized by a wide range of severity, from isolated skin involvement to multiorgan disease. The two most common are ichthyosis vulgaris and X-linked ichthyosis.

  • Acquired ichthyosis develops later in life and can be associated with systemic conditions (e.g., lymphoma, diabetes mellitus, systemic lupus erythematosus) or medications.

  • Investigations and treatment vary based on the type of ichthyosis that is suspected.

  • Newborns with autosomal recessive congenital ichthyosis may be covered with a taut membrane (collodion baby). Management is with aggressive hydration using a humidified chamber and topical lubrication.

Thick, plate-like scaling of the lower extremity of a patient with ichthyosis vulgaris
Thick, plate-like scaling of the lower extremity of a patient with ichthyosis vulgaris
From the collection of Dr Timothy Patton; used with permission

Quick Reference

  • History & Exam

    • Key Factors

      • Other Factors

        More information...
      • Diagnostics Tests

          More information...
        • Treatment Options

            More information...

          Definition

          Epidemiology

          Etiology

          Pathophysiology

          content by BMJ Group
          Last updated

          Images

          • Thick, plate-like scaling of the lower extremity of a patient with ichthyosis vulgaris

            Thick, plate-like scaling of the lower extremity of a patient with ichthyosis vulgaris

          • Hyperlinear palms

            Hyperlinear palms

          Citations

            Key Articles

            • Oji V, Traupe H. Ichthyoses: differential diagnosis and molecular genetics. Eur J Dermatol. 2006;16:349-359.[Abstract]

            • Craiglow BG. Ichthyosis in the newborn. Semin Perinatol. 2013;37:26-31.[Abstract][Full Text]

            • Shwayder T. Disorders of keratinization: diagnosis and management. Am J Clin Dermatol. 2004;5:17-29.[Abstract]

            • Vahlquist A, Ganemo A, Virtanen M. Congenital ichthyosis: an overview of current and emerging therapies. Acta Derm Venereol. 2008;88:4-14.[Abstract]

            Other Online Resources

            • iPLEDGE Program
            • Ichthyosis.com
            • Foundation for Ichthyosis and Related Skin Types
            • Ichthyosis Support Group
            • Network for Ichthyoses and Related Keratinization Disorders

            Referenced Articles

            • 1. Oji V, Traupe H. Ichthyoses: differential diagnosis and molecular genetics. Eur J Dermatol. 2006;16:349-359.[Abstract]

            • 2. Wells RS, Kerr CB. Clinical features of autosomal dominant and sex-inked ichthyosis in an English population. Br Med J. 1966;1:947-950.[Full Text]

            • 3. Lei G, Zhang Y, Hu Y. Investigation on the prevalence of ichthyosis in Sichuan province. Chin J Dermatol. 1992;25:105-106.

            • 4. Al-Zayir AA, Al-Amro Al-Alakloby OM. Clinico-epidemiological features of primary hereditary ichthyoses in the Eastern province of Saudi Arabia. Int J Dermatol. 2006;45:257-264.[Abstract]

            • 5. Richard G. Molecular genetics of the ichthyoses. Am J Med Genet C Semin Med Genet. 2004;131C:32-44.[Abstract]

            • 6. Caver CV. Clofazimine-induced ichthyosis and its treatment. Cutis. 1982;29:341-343.[Abstract]

            • 7. Williams ML, Feingold KR, Grubauer G, et al. Ichthyosis induced by cholesterol-lowering drugs: implications for epidermal cholesterol homeostasis. Arch Dermatol. 1987;123:1535-1538.[Abstract]

            • 8. Kutting B, Traupe H. Acquired ichthyosis-like skin disease: a challenge for diagnostic evaluation. Hautarzt. 1995;46:836-840.[Abstract]

            • 9. Ghislain PD, Roussel S, Marot L, et al. Acquired ichthyosis disclosing Hodgkin's disease: simultaneous recurrence. Presse Med. 2002;31:1126-1128.[Abstract]

            • 10. Tamura J, Shinohara M, Matsushima T, et al. Acquired ichthyosis as a manifestation of abdominal recurrence of non-Hodgkin's lymphoma. Am J Hematol. 1994;45:191-192.[Abstract]

            • 11. Scheinfeld N, Libkind M, Freilich S. New-onset ichthyosis and diabetes in a 14-year-old. Pediatr Dermatol. 2001;18:501-503.[Abstract]

            • 12. Font J, Bosch X, Ingelmo M, et al. Acquired ichthyosis with systemic lupus erythematosus, Arch Dermatol. 1990;126:829.[Abstract]

            • 13. DiGiovanna JJ, Bale SJ. Clinical heterogeneity in epidermolytic hyperkeratosis. Arch Dermatol. 1994;130:1026-1035.[Abstract]

            • 14. Patel N, Spencer LA, English JC 3rd, et al. Acquired ichthyosis. J Am Acad Dermatol. 2006;55:647-656.[Abstract]

            • 15. Simpson JR. Congenital ichthyosiform erythroderma. Trans St John's Hosp Derm Soc. 1964:50:93.

            • 16. Smith FJ, Irvine AD, Terron-Kwiatkowski A, et al. Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet. 2006;38:337-342.[Abstract]

            • 17. Fleckman P, DiGiovanna JJ. The Ichthyoses. In: Wolff K, Goldsmith LA, Katz SI, et al. Fitzpatrick's dermatology in general medicine. 7th ed. New York: McGraw-Hill; 2008:408-411.

            • 18. Powell J, Dawber RPR, Ferguson DJP, et al. Netherton's syndrome: increased likelihood of diagnosis by examining eyebrow hairs. Br J Dermatol. 1999;141:544-546.[Abstract]

            • 19. Hernandez-Martin A, Gonzalez-Sarmiento R, De Unamuno P. X-linked ichthyosis: an update. Br J Dermatol. 1999;141:617-627.[Abstract]

            • 20. Epstein EH, Krauss RM, Shacklecton CHL. X-linked ichthyosis: increased blood cholesterol sulfate and electrophoretic mobility of low-density lipoprotein. Science. 1981;214:659-660.[Abstract]

            • 21. Craiglow BG. Ichthyosis in the newborn. Semin Perinatol. 2013;37:26-31.[Abstract][Full Text]

            • 22. Sandilands A, Smith FJ, Irvine AD, et al. Filaggrin's fuller figure: a glimpse into the genetic architecture of atopic dermatitis. J Invest Dermatol. 2007;127:1282-1284.[Abstract][Full Text]

            • 23. Primary Care Dermatology Society. Ichthyosis. July 2021 [internet publication].[Full Text]

            • 24. Foundation for Icthyosis and Related Skin Types. Infant care sheet: collodion baby. http://www.scalyskin.org (last accessed 22 November 2016).[Full Text]

            • 25. Shwayder T. Disorders of keratinization: diagnosis and management. Am J Clin Dermatol. 2004;5:17-29.[Abstract]

            • 26. Vahlquist A, Ganemo A, Virtanen M. Congenital ichthyosis: an overview of current and emerging therapies. Acta Derm Venereol. 2008;88:4-14.[Abstract]

            • 27. Ganemo A, Virtanen M, Vahlquist A. Improved topical treatment of lamellar ichthyosis: a double-blind study of four different cream formulations. Br J Dermatol. 1999;141:1027-1032.[Abstract]

            • 28. Stege H, Hofmann B, Ruzicka T, et al. Topical application of tazarotene in the treatment of nonerythrodermic lamellar ichthyosis. Arch Dermatol. 1998;134:640-641.[Abstract]

            • 29. Ormerod AD, Campalani E, Goodfield MJ; BAD Clinical Standards Unit. British Association of Dermatologists guidelines on the efficacy and use of acitretin in dermatology. Br J Dermatol. 2010;162:952-963.[Abstract][Full Text]

            • 30. Katugampola RP, Finlay AY. Oral retinoid therapy for disorders of keratinization: single-centre retrospective 25 years' experience on 23 patients. Br J Dermatol. 2006;154:267-276.[Abstract]

            • 31. Nychay SG, Khorenian SD, Schwartz RA, et al. Epidermolytic hyperkeratosis treated with etretinate. Cutis. 1991;47:277-280.[Abstract]

            • 32. Mazereeuw-Hautier J, Hernández-Martín A, O'Toole EA, et al. Management of congenital ichthyoses: European guidelines of care, part two. Br J Dermatol. 2019 Mar;180(3):484-95.[Abstract]

            • 33. Zaenglein AL, Levy ML, Stefanko NS, et al. Consensus recommendations for the use of retinoids in ichthyosis and other disorders of cornification in children and adolescents. Pediatr Dermatol. 2021 Jan;38(1):164-80.[Abstract][Full Text]

            • 34. Mazereeuw-Hautier J, Vahlquist A, Traupe H, et al. Management of congenital ichthyoses: European guidelines of care, part one. Br J Dermatol. 2019 Feb;180(2):272-81.[Abstract]

            • 35. Verfaille CJ, Vanhoutte FP, Blanchet-Bardon C, et al. Oral liarozole vs. acitretin in the treatment of ichthyosis: a phase II/III multicentre, double-blind, randomized, active-controlled study. Br J Dermatol. 2007;156:965-973.[Abstract]

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