Ichthyosis - Symptoms, Causes, Images, and Treatment Options

Diseases

Highlights & Basics

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

From the collection of Dr Timothy Patton; used with permission

Quick Reference

History & Exam
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Definition

Epidemiology

Etiology

Pathophysiology

Images

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