Procedures

Skin biopsy specimens can be examined under light microscopy and electron microscopy. Take biopsy samples from regions of maximal hyperkeratosis because areas of mild scaling are less reliable for histopathologic analysis and findings may be indistinguishable from those of normal skin. The thickest scales are usually found on the anterior aspect of the lower leg.

Histologic Findings

The histological appearance of both hereditary ichthyosis and acquired ichthyosis is practically identical. The stratum corneum shows compact hyperkeratosis, although some areas can be laminated. Follicular plugging may be present and represents associated keratosis pilaris. The granular layer is usually one-layer thick or absent. Ichthyosiform sarcoid, a manifestation of acquired ichthyosis in sarcoid patients, has the additional presence of multiple noncaseating granulomas in the dermis. Note the image below.

Hematoxylin and eosin staining of acquired ichthyosis vulgaris in an adult. Shows epidermal atrophy with thinning of the granular layer. No dermal infiltrate is evident.

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Ultrastructural studies show reduced or absent keratohyalin granules housed in the granular layer. They appear spongy or crumbly, most likely due to defective keratohyalin synthesis. The hyperkeratotic portions of the stratum corneum have a normal keratin pattern.

Treatment & Management

Takeichi T, Akiyama M. Inherited ichthyosis: Non-syndromic forms. J Dermatol. 2016 Mar. 43 (3):242-51. [QxMD MEDLINE Link].
Thyssen JP, Godoy-Gijon E, Elias PM. Ichthyosis vulgaris - the filaggrin mutation disease. Br J Dermatol. 2013 Jan 10. [QxMD MEDLINE Link].
McGrath JA, Uitto J. The filaggrin story: novel insights into skin-barrier function and disease. Trends Mol Med. 2008 Jan. 14(1):20-7. [QxMD MEDLINE Link].
Brown SJ, McLean WH. One remarkable molecule: filaggrin. J Invest Dermatol. 2012 Mar. 132(3 Pt 2):751-62. [QxMD MEDLINE Link].
Gong L, Liu CC, Li YH, Xu XG. Whole exome sequencing identified two point mutations of COL7A1 and FLG in a Chinese family with dystrophic epidermolysis bullous pruriginosa and ichthyosis vulgaris. J Dermatol. 2019 Feb. 46 (2):158-160. [QxMD MEDLINE Link].
Seidl-Philipp M, Schatz UA, Gasslitter I, Moosbrugger-Martinz V, Blunder S, Schossig AS, et al. Spectrum of ichthyoses in an Austrian ichthyosis cohort from 2004 to 2017. J Dtsch Dermatol Ges. 2020 Jan. 18 (1):17-25. [QxMD MEDLINE Link].
Zhong W, Cui B, Zhang Y, et al. Linkage analysis suggests a locus of ichthyosis vulgaris on 1q22. J Hum Genet. 2003. 48(7):390-2. [QxMD MEDLINE Link].
Liu P, Yang Q, Wang X, et al. Identification of a genetic locus for ichthyosis vulgaris on chromosome 10q22.3-q24.2. J Invest Dermatol. 2008 Jun. 128(6):1418-22. [QxMD MEDLINE Link].
Hanifin JM. Evolving concepts of pathogenesis in atopic dermatitis and other eczemas. J Invest Dermatol. 2009 Feb. 129(2):320-2. [QxMD MEDLINE Link].
Winge MC, Hoppe T, Berne B, Vahlquist A, Nordenskjöld M, Bradley M, et al. Filaggrin genotype determines functional and molecular alterations in skin of patients with atopic dermatitis and ichthyosis vulgaris. PLoS One. 2011. 6(12):e28254. [QxMD MEDLINE Link]. [Full Text].
Sandilands A, Terron-Kwiatkowski A, Hull PR, et al. Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. Nat Genet. 2007 May. 39(5):650-4. [QxMD MEDLINE Link].
Gruber R, Janecke AR, Fauth C, Utermann G, Fritsch PO, Schmuth M. Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris. Eur J Hum Genet. 2007 Feb. 15(2):179-84. [QxMD MEDLINE Link].
Kang TW, Lee JS, Oh SW, Kim SC. Filaggrin mutation c.3321delA in a Korean patient with ichthyosis vulgaris and atopic dermatitis. Dermatology. 2009. 218(2):186-7. [QxMD MEDLINE Link].
Oji V, Seller N, Sandilands A, et al. Ichthyosis vulgaris: novel FLG mutations in the German population and high presence of CD1a+ cells in the epidermis of the atopic subgroup. Br J Dermatol. 2009 Apr. 160(4):771-81. [QxMD MEDLINE Link].
Xiong Z, Luo S, Xu X, Zhang L, Peng H, Li W, et al. Novel FLG mutations associated with ichthyosis vulgaris in the Chinese population. Clin Exp Dermatol. 2012 Mar. 37(2):177-80. [QxMD MEDLINE Link].
Chen S, Kong X, Wei X, Sun Y, Yin D, Zhang Q, et al. Targeted next-generation sequencing identifies 9 novel FLG variants in Chinese Han patients with ichthyosis vulgaris. Br J Dermatol. 2017 Apr 13. [QxMD MEDLINE Link].
Nomura T, Sandilands A, Akiyama M, et al. Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis. J Allergy Clin Immunol. 2007 Feb. 119(2):434-40. [QxMD MEDLINE Link].
Nomura T, Akiyama M, Sandilands A, et al. Specific filaggrin mutations cause ichthyosis vulgaris and are significantly associated with atopic dermatitis in Japan. J Invest Dermatol. 2008 Jun. 128(6):1436-41. [QxMD MEDLINE Link].
Akiyama M. FLG mutations in ichthyosis vulgaris and atopic eczema: spectrum of mutations and population genetics. Br J Dermatol. 2010 Mar. 162(3):472-7. [QxMD MEDLINE Link].
Li M, Cheng R, Shi M, Liu J, Zhang G, Liu Q, et al. Analyses of FLG mutation frequency and filaggrin expression in isolated ichthyosis vulgaris (IV) and atopic dermatitis-associated IV. Br J Dermatol. 2013 Jan 5. [QxMD MEDLINE Link].
Perusquía-Ortiz AM, Oji V, Sauerland MC, Tarinski T, Zaraeva I, Seller N, et al. Complete filaggrin deficiency in ichthyosis vulgaris is associated with only moderate changes in epidermal permeability barrier function profile. J Eur Acad Dermatol Venereol. 2013 Jan 7. [QxMD MEDLINE Link].
Blunder S, Kõks S, Kõks G, Reimann E, Hackl H, Gruber R, et al. Enhanced Expression of Genes Related to Xenobiotic Metabolism in the Skin of Patients with Atopic Dermatitis but Not with Ichthyosis Vulgaris. J Invest Dermatol. 2018 Jan. 138 (1):98-108. [QxMD MEDLINE Link].
Dar NR, Raza N, Khan A, Amin MU. Paraneoplastic Addisonian pigmentation and acquired ichthyosis as presenting features of multiple myeloma. J Coll Physicians Surg Pak. 2011 Jan. 21(1):40-2. [QxMD MEDLINE Link].
Biver-Dalle C, Gil H, Meaux-Ruault N, et al. [Acquired ichthyosis and livedoid palmoplantar keratoderma: Two unusual skin manifestations of systemic lupus erythematosus.]. Rev Med Interne. 2011 Mar 21. [QxMD MEDLINE Link].
López Aventín D, Gallardo F, Yébenes M, Lloreta J, Pujol RM. Acquired ichthyosis associated with primary cutaneous CD30+ lymphoproliferative disorders. Eur J Dermatol. 2014 Feb 3. [QxMD MEDLINE Link].
Patsatsi A, Kyriakou A, Karavasilis V, Tsatsou F, Lazaridis G, Kalabalikis D, et al. Acquired ichthyosis triggered by an osseous hemangiopericytoma: a case report and review of the literature. Case Rep Dermatol. 2014 Jan. 6(1):10-5. [QxMD MEDLINE Link]. [Full Text].
London RD, Lebwohl M. Acquired ichthyosis and hyperparathyroidism. J Am Acad Dermatol. 1989 Oct. 21(4 Pt 1):801-2. [QxMD MEDLINE Link].
Spelman LJ, Strutton GM, Robertson IM, Weedon D. Acquired ichthyosis in bone marrow transplant recipients. J Am Acad Dermatol. 1996 Jul. 35(1):17-20. [QxMD MEDLINE Link].
Kaplan MH, Sadick NS, McNutt NS, Talmor M, Coronesi M, Hall WW. Acquired ichthyosis in concomitant HIV-1 and HTLV-II infection: a new association with intravenous drug abuse. J Am Acad Dermatol. 1993 Nov. 29(5 Pt 1):701-8. [QxMD MEDLINE Link].
Lee HW, Ahn SJ, Choi JC, et al. Acquired ichthyosis associated with an overlap syndrome of systemic sclerosis and systemic lupus erythematosus. J Dermatol. 2006 Jan. 33(1):52-4. [QxMD MEDLINE Link].
Urrutia S, Vazquez F, Requena L, Sanchez Yus E. Acquired ichthyosis associated with dermatomyositis. J Am Acad Dermatol. 1987 Mar. 16(3 Pt 1):627-9. [QxMD MEDLINE Link].
Roselino AM, Souza CS, Andrade JM, et al. Dermatomyositis and acquired ichthyosis as paraneoplastic manifestations of ovarian tumor. Int J Dermatol. 1997 Aug. 36(8):611-4. [QxMD MEDLINE Link].
Ennibi K, Rabhi M, Al Bouzidi A, et al. [Acquired ichthyosis revealing an Hodgkin's disease]. Rev Med Interne. 2008 May. 29(5):418-20. [QxMD MEDLINE Link].
Parsons WB Jr, Flinn JH. Reduction of serum cholesterol levels and beta-lipoprotein cholesterol levels by nicotinic acid. AMA Arch Intern Med. 1959 May. 103(5):783-90. [QxMD MEDLINE Link].
Williams ML, Feingold KR, Grubauer G, Elias PM. Ichthyosis induced by cholesterol-lowering drugs. Implications for epidermal cholesterol homeostasis. Arch Dermatol. 1987 Nov. 123(11):1535-8. [QxMD MEDLINE Link].
Poulsen J. Hair loss, depigmentation of hair, ichthyosis, and blepharoconjunctivitis produced by dixyrazine. Acta Derm Venereol. 1981. 61(1):85-8. [QxMD MEDLINE Link].
Caver CV. Clofazimine-induced ichthyosis and its treatment. Cutis. 1982 Apr. 29(4):341-3. [QxMD MEDLINE Link].
Oji V, Hautier JM, Ahvazi B, et al. Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype. Hum Mol Genet. 2006 Nov 1. 15(21):3083-97. [QxMD MEDLINE Link].
Gruber R, Sugarman JL, Crumrine D, Hupe M, Mauro TM, Mauldin EA, et al. Sebaceous gland, hair shaft, and epidermal barrier abnormalities in keratosis pilaris with and without filaggrin deficiency. Am J Pathol. 2015 Apr. 185(4):1012-21. [QxMD MEDLINE Link]. [Full Text].
Singh M, Pawar M. Eyelash length for the diagnosis of atopic dermatitis and ichthyosis vulgaris in children-a case control study. Eur J Pediatr. 2018 Jun. 177 (6):955-960. [QxMD MEDLINE Link].
Cather JC, Cohen PR. Ichthyosiform sarcoidosis. J Am Acad Dermatol. 1999 May. 40(5 Pt 2):862-5. [QxMD MEDLINE Link].
Matarasso SL, Bruce S. Ichthyosiform sarcoidosis: report of a case. Cutis. 1991 Jun. 47(6):405-8. [QxMD MEDLINE Link].
Steele L, Hong A, Balogh P, O'Toole EA, Harwood CA, Maruthappu T. Disseminated tinea incognita in a patient with ichthyosis vulgaris and eczema. Clin Exp Dermatol. 2021 Jan. 46 (1):210-212. [QxMD MEDLINE Link].
Grahovac M, Budimcic D. Unrecognized dermatophyte infection in ichthyosis vulgaris. Acta Dermatovenerol Croat. 2009. 17(2):127-30. [QxMD MEDLINE Link].
Zhang Q, Si N, Liu Y, Zhang D, Wang R, Zhang Y, et al. Steroid sulfatase and filaggrin mutations in a boy with severe ichthyosis, elevated serum IgE level and moyamoya syndrome. Gene. 2017 Jul 11. [QxMD MEDLINE Link].
Tadini G, Giustini S, Milani M. Efficacy of topical 10% urea-based lotion in patients with ichthyosis vulgaris: a two-center, randomized, controlled, single-blind, right-vs.-left study in comparison with standard glycerol-based emollient cream. Curr Med Res Opin. 2011 Dec. 27(12):2279-84. [QxMD MEDLINE Link].
Benintende C, Boscaglia S, Dinotta F, Lacarrubba F, Micali G. Treatment of ichthyosis vulgaris with a urea-based emulsion: videodermatoscopy and confocal microscopy evaluation. G Ital Dermatol Venereol. 2017 Dec. 152 (6):555-559. [QxMD MEDLINE Link].
Friedman AJ, von Grote EC, Meckfessel MH. Urea: A Clinically Oriented Overview from Bench to Bedside. J Drugs Dermatol. 2016 May 1. 15 (5):633-9. [QxMD MEDLINE Link].
Haas AA, Arndt KA. Selected therapeutic applications of topical tretinoin. J Am Acad Dermatol. 1986 Oct. 15(4 Pt 2):870-7. [QxMD MEDLINE Link].
Hofmann B, Stege H, Ruzicka T, Lehmann P. Effect of topical tazarotene in the treatment of congenital ichthyoses. Br J Dermatol. 1999 Oct. 141(4):642-6. [QxMD MEDLINE Link].
Shi VY, Tran K, Lio PA. A Comparison of Physicochemical Properties of a Selection of Modern Moisturizers: Hydrophilic Index and pH. J Drugs Dermatol. 2012 May 1. 11(5):633-6. [QxMD MEDLINE Link].
Osawa R, Akiyama M, Shimizu H. Filaggrin gene defects and the risk of developing allergic disorders. Allergol Int. 2011 Mar. 60(1):1-9. [QxMD MEDLINE Link].
Hoppe T, Winge MC, Bradley M, Nordenskjöld M, Vahlquist A, Törmä H, et al. Moisturizing treatment of patients with atopic dermatitis and ichthyosis vulgaris improves dry skin, but has a modest effect on gene expression regardless of FLG genotype. J Eur Acad Dermatol Venereol. 2013 Dec 12. [QxMD MEDLINE Link].
Süßmuth K, Traupe H, Metze D, Oji V. Ichthyoses in everyday practice: management of a rare group of diseases. J Dtsch Dermatol Ges. 2020 Mar. 18 (3):225-243. [QxMD MEDLINE Link].

Media Gallery

Hereditary ichthyosis vulgaris with thick scaling of the anterior shins.
Hematoxylin and eosin staining of acquired ichthyosis vulgaris in an adult. Shows epidermal atrophy with thinning of the granular layer. No dermal infiltrate is evident.

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Author

Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Professor of Pediatrics, Professor of Medicine, Rutgers New Jersey Medical School

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, New York Academy of Medicine, Royal College of Physicians of Edinburgh, Sigma Xi, The Scientific Research Honor Society

Disclosure: Nothing to disclose.

Coauthor(s)

Jason F Okulicz, MD, FACP, FIDSA Director, HIV Medical Evaluation Unit, Infectious Disease Service, San Antonio Military Medical Center; Associate Professor of Medicine, F Edward Hebert School of Medicine, Uniformed Services University of the Health Sciences; Clinical Associate Professor of Medicine, University of Texas Health Science Center at San Antonio; Adjunct Clinical Instructor, Feik School of Pharmacy, University of the Incarnate Word

Jason F Okulicz, MD, FACP, FIDSA is a member of the following medical societies: Alpha Omega Alpha, American College of Physicians-American Society of Internal Medicine, Infectious Diseases Society of America

Disclosure: Serve(d) as a speaker or a member of a speakers bureau for: Gilead Sciences.

Specialty Editor Board

David F Butler, MD Former Section Chief of Dermatology, Central Texas Veterans Healthcare System; Professor of Dermatology, Texas A&M University College of Medicine; Founding Chair, Department of Dermatology, Scott and White Clinic

David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, Association of Military Dermatologists, Phi Beta Kappa, Texas Dermatological Society

Disclosure: Nothing to disclose.

Lester F Libow, MD Dermatopathologist, South Texas Dermatopathology Laboratory

Lester F Libow, MD is a member of the following medical societies: American Academy of Dermatology, American Society of Dermatopathology, Texas Medical Association

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

Albert C Yan, MD Section Chief, Associate Professor, Department of Pediatrics, Section of Dermatology, Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine

Albert C Yan, MD is a member of the following medical societies: American Academy of Dermatology, Society for Investigative Dermatology, Society for Pediatric Dermatology, American Academy of Pediatrics

Disclosure: Nothing to disclose.

Sections Hereditary and Acquired Ichthyosis Vulgaris
Overview
Presentation
DDx
Workup
Treatment
Medication
Media Gallery
References

Hereditary and Acquired Ichthyosis Vulgaris Workup

Procedures

Histologic Findings

References

Tables

Contributor Information and Disclosures

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