Pathophysiological Insights and Therapeutic Approaches in Ichthyosis Vulgaris: A Comprehensive Review
Main Article Content
Abstract
Icthyosis vulgaris, a rare hereditary skin disorder, poses a significant clinical challenge due to its complex pathogenesis and clinical variability. This comprehensive review aims to provide an in-depth understanding of the underlying pathophysiological aspects of ichthyosis vulgaris, with a focus on the X-linked variant (X-Linked Ichthyosis, XLI). We will discuss the genetic foundations, molecular mechanisms involved in skin barrier dysfunction, and the characteristic clinical presentation of this condition. Furthermore, current and emerging treatment options, including pharmacological therapies and gene therapy, will be reviewed, highlighting the latest advancements in ichthyosis vulgaris research. This review will offer crucial insights for clinicians, geneticists, and scientists interested in comprehending and managing this hereditary skin disorder.
Article Details
This work is licensed under a Creative Commons Attribution 4.0 International License.
References
I. Oji V, Traupe H. Ichthyosis: clinical manifestations and practical treatment options. Am J Clin Dermatol. 2009;10(6):351–364.
doi: 10.2165/11311070-000000000-00000.
II. Brown SJ, Relton CL, Liao H, Zhao Y, Sandilands A, McLean WH, et al. Filaggrin haploinsufficiency is highly penetrant and is associated with increased severity of eczema: further delineation of the skin phenotype in a prospective epidemiological study of 792 school children. Br J Dermatol. 2009;161(4):884–889.
doi: 10.1111/j.1365-2133.2009.09339.x.
III. Oji V, Tadini G, Akiyama M, Blanchet Bardon C, Bodemer C, Bourrat E, et al. Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Soreze 2009. J Am Acad Dermatol. 2010;63(4):607–641. doi: 10.1016/j.jaad.2009.11.020.
IV. Dreyfus I, Pauwels C, Bourrat E, Bursztejn AC, Maruani A, Chiaverini C, et al. Burden of inherited ichthyosis: a French national survey. Acta Derm Venereol. 2015;95(3):326–328.
doi: 10.2340/00015555-1955.
V. Schmuth M, Gruber R, Elias PM, Williams ML. Ichthyosis update: towards a function-driven model of pathogenesis of the disorders of cornification and the role of corneocyte proteins in these disorders. Adv Dermatol. 2007;23:231–256.
doi: 10.1016/j.yadr.2007.07.011.
VI. Kuramoto N, Takizawa T, Matsuki M, Morioka H, Robinson JM, Yamanishi K. Development of ichthyosiform skin compensates for defective permeability barrier function in mice lacking transglutaminase 1. J Clin Invest. 2002;109(2):243–250. doi: 10.1172/JCI0213563.
VII. Ishida-Yamamoto A, Igawa S. The biology and regulation of corneodesmosomes. Cell Tissue Res. 2015;360(3):477–482. doi: 10.1007/s00441-014-2037-z.
VIII. Feingold KR, Elias PM. Role of lipids in the formation and maintenance of the cutaneous permeability barrier. Biochim Biophys Acta. 2014;1841(3):280–294.
doi: 10.1016/j.bbalip.2013.11.007.
IX. Raymond AA, Gonzalez de Peredo A, Stella A, Ishida-Yamamoto A, Bouyssie D, Serre G, et al. Lamellar bodies of human epidermis: proteomics characterization by high throughput mass spectrometry and possible involvement of CLIP-170 in their trafficking/secretion. Mol Cell Proteomics. 2008;7(11):2151–2175.
doi: 10.1074/mcp.M700334-MCP200.
X. Elias PM, Williams ML, Maloney ME, Bonifas JA, Brown BE, Grayson S, et al. Stratum corneum lipids in disorders of cornification. Steroid sulfatase and cholesterol sulfate in normal desquamation and the pathogenesis of recessive X-linked ichthyosis. J Clin Invest. 1984;74(4):1414–1421.
doi: 10.1172/JCI111552.
XI. Sato J, Denda M, Nakanishi J, Nomura J, Koyama J. Cholesterol sulfate inhibits proteases that are involved in desquamation of stratum corneum. J Invest Dermatol. 1998;111(2):189–193.
doi: 10.1046/j.1523-1747.1998.00244.x.
XII. Hoppe T, Winge MC, Bradley M, Nordenskjöld M, Vahlquist A, Berne B, et al. X-linked recessive ichthyosis: an impaired barrier function evokes limited gene responses before and after moisturizing treatments. Br J Dermatol. 2012;167(3):514–522. doi: 10.1111/j.1365-2133.2012.10979.x.
XIII. Winge MC, Hoppe T, Berne B, Vahlquist A, Nordenskjold 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.
doi: 10.1371/journal.pone.0028254.
XIV. Sturesdotter Hoppe T. Skin barrier function and mRNA expression profiles in patients with atopic dermatitis, ichthyosis vulgaris, and X-linked recessive ichthyosis: aetiopathogenic differences and the impact of moisturizing treatment. Digital comprehensive summaries of Uppsala dissertations from the Faculty of Medicine, ISSN 1651-6206; 859. Uppsala: Uppsala University; 2013.
XV. Paller AS, Renert-Yuval Y, Suprun M, Esaki H, Oliva M, Huynh TN, et al. An IL-17-dominant immune profile is shared across the major orphan forms of ichthyosis. J Allergy Clin Immunol. 2017;139(1):152–165.
doi: 10.1016/j.jaci.2016.07.019.
XVI. Khnykin D, Ronnevig J, Johnsson M, Sitek JC, Blaas HG, Hausser I, et al. Ichthyosis prematurity syndrome: clinical evaluation of 17 families with a rare disorder of lipid metabolism. J Am Acad Dermatol. 2012;66(4):606–616.
doi: 10.1016/j.jaad.2011.04.014.