Ichthyosis Models

  • Howard Maibach
Living reference work entry


Ichthyosis vulgaris is a heterogeneous autosomal skin disease characterized by dry, scaly skin, mild hyperkeratosis, and a decreased or absent granular layer that either lacks or contains morphologically abnormal, keratohyalin granula (Anton-Lamprecht and Hofbauer 1972). Both the skin of ichthyosis vulgaris patients and keratinocytes cultured from affected individuals exhibit reduced or absent profilaggrin mRNA and protein levels (Sybert et al. 1985). The symptoms and the genetics of the ichthyotic (ic/ic) mouse were described by Spearman (1960), Green et al. (1974), Jensen and Esterly (1977), and Holbrook (1989). Presland et al. (2000) demonstrated loss of normal profilaggrin and filaggrin in flaky tail (ft/ft) mice and proposed this as an animal model for the filaggrin-deficient skin disease ichthyosis vulgaris.


Hairless Mouse Topical Retinoid Comparative Potency Single Gene Model Scaly Skin 
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References and Further Reading

  1. Anderson PC, Martt JM (1965) Myotonia and keratoderma induced by 20,25-diazacholesterol. Arch Dermatol 92:181–187CrossRefGoogle Scholar
  2. Anton-Lamprecht I, Hofbauer M (1972) Ultrastructural distinction of autosomal dominant ichthyosis vulgaris and X-linked recessive ichthyosis. Humangenetik 15:261–264PubMedGoogle Scholar
  3. Chung J-C, Law MYL, Elliott ST, Elias PM (1984) Diazacholesterol-induced ichthyosis in the hairless mouse. Assay for comparative potency of topical retinoids. Arch Dermatol 120:342–347CrossRefPubMedGoogle Scholar
  4. Elias PM, Lampe MA, Chung JC, Williams ML (1983) Diazacholesterol-induced ichthyosis in the hairless mouse. I. Morphologic, histochemical, and lipid biochemical characterization of a new animal model. Lab Invest 48:565–577PubMedGoogle Scholar
  5. Green MC, Alpert BN, Mayer TC (1974) The site of action of the ichthyosis locus (ic) in the mouse as determined by dermal-epidermal recombinations. J Embryol Exp Morphol 32:715–724PubMedGoogle Scholar
  6. Holbrook KA (1989) Ichthyosis, inherited, skin mouse (ic/ic). In: Jones TC, Mohr U, Hunt RD (eds) Integument and mammary glands, Monographs on pathology of laboratory animals. Springer, Heidelberg, pp 223–229CrossRefGoogle Scholar
  7. Jensen JE, Esterly NB (1977) The ichthyosis mouse: histologic, histochemical, ultrastructural, and autoradiographic studies of interfollicular epidermis. J Invest Dermatol 68:23–31CrossRefPubMedGoogle Scholar
  8. Knox WE, Lister-Rosenoer LM (1998) Infantile ichthyosis in rats: a new model of hyperkeratotic skin disease. J Hered 69:391–394Google Scholar
  9. Nirunsuksiri W, Presland RB, Brumbaugh SG, Dale BA, Fleckman P (1995) Decreased profilaggrin expression in ichthyosis vulgaris is a result of selectively impaired post-transcriptional control. J Biol Chem 270:871–876CrossRefPubMedGoogle Scholar
  10. Presland RB, Boggess D, Lewis SP, Hull C, Fleckman P, Sundberg JP (2000) Loss of normal profilaggrin and filaggrin in flaky tail (ft/ft) mice: an animal model for the filaggrin-deficient skin disease ichthyosis vulgaris. J Invest Dermatol 115:1072–1081CrossRefPubMedGoogle Scholar
  11. Shultz LD, Lyons BL, Burzenski LM, Gott B, Samuels R, Schweitzer PA, Dreger C, Herrmann H, Kalscheuer V, Olins AL, Olins DE, Sperling K, Hoffmann K (2003) Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huet anomaly. Hum Mol Genet 12:61–69CrossRefPubMedGoogle Scholar
  12. Spearman RJ (1960) The skin abnormality of “ichthyosis”, a mutant of the house mouse. J Embryol Exp Morphol 8:387–395Google Scholar
  13. Sundberg JP, Boggess D, Hogan ME, Sundberg BA, Rourk MH, Harris B, Johnson K, Dunstan RW, Davisson MT (1997) Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis. Am J Pathol 151:293–310PubMedCentralPubMedGoogle Scholar
  14. Sybert VP, Dale BA, Holbrook KA (1985) Ichthyosis vulgaris: identification of a defect in syntheses of filaggrin correlated with an absence of keratohyline granules. J Invest Dermatol 84:191–194CrossRefPubMedGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2015

Authors and Affiliations

  1. 1.Department of DermatologyUC San FranciscoSan FranciscoUSA

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