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Analysis of the Cornified Cell Envelope in Lamellar Ichthyosis

Analysis of the Cornified Cell Envelope in Lamellar Ichthyosis Abstract • Background.— Loricrin and involucrin are major precursor proteins to the cornified cell envelope expressed late in epidermal differentiation. Involucrin expression starts in the upper spinous layers in normal human epidermis and precedes loricrin expression, which is restricted to the granular layer. Subsequently, both proteins become cross-linked by the activity of transglutaminases TGK/E as major components of the cornified cell envelope by Nε-(γ-glutamyl)lysine isopeptide bonds. In this study, three cases of lamellar ichthyosis were analyzed by immunohistologic study with antibodies to loricrin, involucrin, filaggrin, and transglutaminase TGK. Observations.— A high expression of loricrin and involucrin with a peculiar and abnormal cytoplasmic staining concurred with a diminished cytoplasmic staining of transglutaminase TGK as assessed by antibodies B.C.1 and K.D.3. This pattern was absent in a collodion baby at birth but present 2 weeks later before a phenotype of lamellar ichthyosis appeared clinically. Conclusions.— The results suggest that in our cases of lamellar ichthyosis, (1) disturbed membrane anchorage of transglutaminase TGK could alter loricrin and involucrin cross-linkage and the formation of the cornified cell envelope and that (2) immunohistologic study might serve as an early diagnostic and prognostic tool in the treatment of collodion babies.(Arch Dermatol. 1993;129:618-624) References 1. Traupe H. The lamellar ichthyoses . In: Traupe H, ed. The Ichthyoses . Berlin, Germany: Springer-Verlag; 1989:111-134. 2. Baden H. Ichthyosiform dermatoses . In: Fitzpatrick TB, Eisen AZ, Wolff K, Freedberg IM, Austen KF, eds. Dermatology in General Medicine . New York, NY: McGraw-Hill International Book Co; 1987:506-517. 3. Griffiths W, Leigh I, Marks R. Disorders of keratinization . In: Champion RH, Burton JL, Ebling JG, eds. Textbook of Dermatology . Boston, Mass: Blackwell Scientific Publications Inc; 1992:1325-1390. 4. Anton-Lamprecht I. Pränatale Diagnostik von Genodermatosen . Hautarzt. 1988;39:16s-20s. 5. Niemi KM, Kanerva L, Kuokkanen K. Recessive ichthyosis congenita type II . Arch Dermatol Res. 1991;283:211-218.Crossref 6. Williams M, Elias P. Elevated n-alkanes in congenital ichthyosiform erythroderma: phenotypic differentiation of two types of autosomal recessive ichthyosis . J Clin Invest. 1984;74:296-300.Crossref 7. Bortz J, Wertz P, Downing D. The origin of alkanes found in human skin surface lipids . J Invest Dermatol. 1989;93:723-727.Crossref 8. Matoltsy AG, Matoltsy MN. The chemical nature of keratohyalin granules of the epidermis . J Cell Biol. 1970;47:593-603.Crossref 9. Rice RH, Green H. The cornified envelope of terminally differentiated human epidermal keratinocytes consists of cross-linked protein . Cell. 1977;11:417-422.Crossref 10. Goldsmith LA, Baden HP, Roth SI, Colman R, Lee L, Fleming B. Vertebral epidermal transamidases . Biochim Biophys Acta. 1974;351:113-125.Crossref 11. Greenberg C, Birckbichler P, Rice R. Transglutaminases: multifunctional cross-linking enzymes that stabilize tissues . FASEB J. 1991;5:3071-3077. 12. Polakowska R, Goldsmith L. The cell envelope and transglutaminases . In: Goldsmith L, ed. Biochemistry, Physiology and Molecular Biology of the Skin . New York, NY: Oxford University Press Inc; 1991:168-201. 13. Hohl D. The cornified cell envelope . Dermatologica. 1990;180: 201-211.Crossref 14. Hohl D, Roop D. Loricrin . In: Darmon M, Blumenberg M, eds. Molecular Biology of the Skin . Orlando, Fla: Academic Press Inc. In press. 15. Kvedar J, Manabe M, Phillips S, Ross B, Baden H. Characterization of sciellin, a precursor to the cornified envelope of human keratinocytes . Differentiation. 1992;49:195-204.Crossref 16. Backendorf C, Hohl D. A common origin for cornified envelope precursor proteins? Nature Genet. 1992;2:91.Crossref 17. Hohl D, Ruf Olano B, Schnyder UW, Roop DR. Loricrin is a marker of squamous differentiation in rodents and a marker of epidermal differentiation in higher mammals . J Invest Dermatol. 1991; 96:1030. Abstract. 18. Walts AE, Said JW, Siegel MB, Banks-Schlegel S. Involucrin, a marker of squamous and urothelial differentiation: an immunohistochemical study on its distribution in normal and neoplastic tissues . J Pathol. 1985;145:329-340.Crossref 19. Hohl D, Huber M, Thacher S, Frenk E. Expression patterns of loricrin in dermatological disorders . J Invest Dermatol. 1992;98: 530. Abstract. 20. Hashimoto T, Inamoto N, Nakamura K, Harada R. Involucrin expression in skin appendage tumours . Br J Dermatol. 1987;117: 325-332.Crossref 21. Hohl D, Lichti U, Breitkreutz D, Steinert P, Roop D. Transcription of the human loricrin gene in vitro is induced by calcium and cell density and suppressed by retinoic acid . J Invest Dermatol. 1991;96:414-418.Crossref 22. Van Hooijdonk CA, Steijlen PM, Bergers M, Mier PD, Traupe H, Happle R. Epidermal transglutaminases in ichthyosis . Acta Derm Venereol (Stockh) . 1991;71:173-175. 23. Mehrel T, Hohl D, Rothnagel JA, et al. Identification of a major keratinocyte cell envelope protein, loricrin . Cell. 1990;61:1103-1112.Crossref 24. Roop DR, Cheng CK, Titterington L, et al. Synthetic peptides corresponding to keratin subunits elicit highly specific antibodies . J Biol Chem. 1984;259:8037-8040. 25. Thacher SM, Rice RH. Keratinocyte-specific transglutaminase of cultured human epidermal cells: relation to cross-linked envelope formation and terminal differentiation . Cell. 1985;40:685-695.Crossref 26. Banks-Schlegel S, Green H. Involucrin synthesis and tissue assembly by keratinoytes in natural and cultured human epithelia . J Cell Biol. 1981;90:732-737.Crossref 27. Watt FM. Involucrin and other markers of keratinocyte terminal differentiation . J Invest Dermatol. 1983;81:100s-103s.Crossref 28. Sybert V, Dale B, Holbrook K. Ichthyosis vulgaris: identification of a defect in synthesis of filaggrin correlated with an absence of keratohyaline granules . J Invest Dermatol. 1985;84: 191-194.Crossref 29. Michel S, Schmidt R, Shroot B, Reichert U. Morphological and biochemical characterization of the cornified envelopes from human epidermal keratinocytes of different origin . J Invest Dermatol. 1988; 91:11-15.Crossref 30. Michel S, Juhlin L. Cornified envelopes in congenital disorders of keratinization . Br J Dermatol. 1990;122:15-21.Crossref 31. Ando Y, Tanaka T, Horiguchi Y, Ikai K, Tomono H. Hidrotic ectodermal dysplasia: a clinical and ultrastructural observation . Dermatologica. 1988;176:205-211.Crossref 32. Reibel J, Clausen H, Dale B, Thacher S. Immunohistochemical analysis of stratum corneum components in oral squamous epithelia . Differentiation. 1989;41:237-244.Crossref 33. Parenteau NL, Eckert RL, Rice RH. Primate involucrins: antigenic relatedness and detection of multiple forms . Proc Natl Acad Sci U S A. 1987;84:7571-7575.Crossref 34. Schmidt R, Michel S, Shroot B, Reichert U. Transglutaminases in normal and transformed human keratinocytes . J Invest Dermatol. 1988;90:475-479.Crossref 35. Chakravarty R, Rice R. Acylation of keratinocyte transglutaminase by palmitic and myristic acids in the membrane anchorage regions . J Biol Chem. 1989;264:625-629. 36. Kim HC, Idler WW, Kim IG, Han JH, Chung SI, Steinert PM. The complete amino acid sequence of the human transglutaminase K enzyme deduced from the nucleic acid sequences of cDNA clones . J Biol Chem. 1991;266:536-539. 37. Swartzendruber DC, Wertz PW, Kitko DJ, Madison KS, Downing DT. Molecular models of the intercellular lipid lamellae in mammalian stratum corneum . J Invest Dermatol. 1989;92:251-257.Crossref 38. Farbman AI. Plasma membrane changes during keratinization . Anat Rec. 1966;156:269-282.Crossref 39. Thacher SM. Purification of keratinocyte transglutaminase and its expression during squamous differentiation . J Invest Dermatol. 1989;92:578-584. 40. Frenk E. A spontaneously healing collodion baby: a light and electron microscopical study . Acta Derm Venereol (Stockh) . 1981;61: 168-171. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Dermatology American Medical Association

Analysis of the Cornified Cell Envelope in Lamellar Ichthyosis

Archives of Dermatology , Volume 129 (5) – May 1, 1993

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American Medical Association
Copyright
Copyright © 1993 American Medical Association. All Rights Reserved.
ISSN
0003-987X
eISSN
1538-3652
DOI
10.1001/archderm.1993.01680260088013
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Abstract

Abstract • Background.— Loricrin and involucrin are major precursor proteins to the cornified cell envelope expressed late in epidermal differentiation. Involucrin expression starts in the upper spinous layers in normal human epidermis and precedes loricrin expression, which is restricted to the granular layer. Subsequently, both proteins become cross-linked by the activity of transglutaminases TGK/E as major components of the cornified cell envelope by Nε-(γ-glutamyl)lysine isopeptide bonds. In this study, three cases of lamellar ichthyosis were analyzed by immunohistologic study with antibodies to loricrin, involucrin, filaggrin, and transglutaminase TGK. Observations.— A high expression of loricrin and involucrin with a peculiar and abnormal cytoplasmic staining concurred with a diminished cytoplasmic staining of transglutaminase TGK as assessed by antibodies B.C.1 and K.D.3. This pattern was absent in a collodion baby at birth but present 2 weeks later before a phenotype of lamellar ichthyosis appeared clinically. Conclusions.— The results suggest that in our cases of lamellar ichthyosis, (1) disturbed membrane anchorage of transglutaminase TGK could alter loricrin and involucrin cross-linkage and the formation of the cornified cell envelope and that (2) immunohistologic study might serve as an early diagnostic and prognostic tool in the treatment of collodion babies.(Arch Dermatol. 1993;129:618-624) References 1. Traupe H. The lamellar ichthyoses . In: Traupe H, ed. The Ichthyoses . Berlin, Germany: Springer-Verlag; 1989:111-134. 2. Baden H. Ichthyosiform dermatoses . In: Fitzpatrick TB, Eisen AZ, Wolff K, Freedberg IM, Austen KF, eds. Dermatology in General Medicine . New York, NY: McGraw-Hill International Book Co; 1987:506-517. 3. Griffiths W, Leigh I, Marks R. Disorders of keratinization . In: Champion RH, Burton JL, Ebling JG, eds. Textbook of Dermatology . Boston, Mass: Blackwell Scientific Publications Inc; 1992:1325-1390. 4. Anton-Lamprecht I. Pränatale Diagnostik von Genodermatosen . Hautarzt. 1988;39:16s-20s. 5. Niemi KM, Kanerva L, Kuokkanen K. Recessive ichthyosis congenita type II . Arch Dermatol Res. 1991;283:211-218.Crossref 6. Williams M, Elias P. Elevated n-alkanes in congenital ichthyosiform erythroderma: phenotypic differentiation of two types of autosomal recessive ichthyosis . J Clin Invest. 1984;74:296-300.Crossref 7. Bortz J, Wertz P, Downing D. The origin of alkanes found in human skin surface lipids . J Invest Dermatol. 1989;93:723-727.Crossref 8. Matoltsy AG, Matoltsy MN. The chemical nature of keratohyalin granules of the epidermis . J Cell Biol. 1970;47:593-603.Crossref 9. Rice RH, Green H. The cornified envelope of terminally differentiated human epidermal keratinocytes consists of cross-linked protein . Cell. 1977;11:417-422.Crossref 10. Goldsmith LA, Baden HP, Roth SI, Colman R, Lee L, Fleming B. Vertebral epidermal transamidases . Biochim Biophys Acta. 1974;351:113-125.Crossref 11. Greenberg C, Birckbichler P, Rice R. Transglutaminases: multifunctional cross-linking enzymes that stabilize tissues . FASEB J. 1991;5:3071-3077. 12. Polakowska R, Goldsmith L. The cell envelope and transglutaminases . In: Goldsmith L, ed. Biochemistry, Physiology and Molecular Biology of the Skin . New York, NY: Oxford University Press Inc; 1991:168-201. 13. Hohl D. The cornified cell envelope . Dermatologica. 1990;180: 201-211.Crossref 14. Hohl D, Roop D. Loricrin . In: Darmon M, Blumenberg M, eds. Molecular Biology of the Skin . Orlando, Fla: Academic Press Inc. In press. 15. Kvedar J, Manabe M, Phillips S, Ross B, Baden H. Characterization of sciellin, a precursor to the cornified envelope of human keratinocytes . Differentiation. 1992;49:195-204.Crossref 16. Backendorf C, Hohl D. A common origin for cornified envelope precursor proteins? Nature Genet. 1992;2:91.Crossref 17. Hohl D, Ruf Olano B, Schnyder UW, Roop DR. Loricrin is a marker of squamous differentiation in rodents and a marker of epidermal differentiation in higher mammals . J Invest Dermatol. 1991; 96:1030. Abstract. 18. Walts AE, Said JW, Siegel MB, Banks-Schlegel S. Involucrin, a marker of squamous and urothelial differentiation: an immunohistochemical study on its distribution in normal and neoplastic tissues . J Pathol. 1985;145:329-340.Crossref 19. Hohl D, Huber M, Thacher S, Frenk E. Expression patterns of loricrin in dermatological disorders . J Invest Dermatol. 1992;98: 530. Abstract. 20. Hashimoto T, Inamoto N, Nakamura K, Harada R. Involucrin expression in skin appendage tumours . Br J Dermatol. 1987;117: 325-332.Crossref 21. Hohl D, Lichti U, Breitkreutz D, Steinert P, Roop D. Transcription of the human loricrin gene in vitro is induced by calcium and cell density and suppressed by retinoic acid . J Invest Dermatol. 1991;96:414-418.Crossref 22. Van Hooijdonk CA, Steijlen PM, Bergers M, Mier PD, Traupe H, Happle R. Epidermal transglutaminases in ichthyosis . Acta Derm Venereol (Stockh) . 1991;71:173-175. 23. Mehrel T, Hohl D, Rothnagel JA, et al. Identification of a major keratinocyte cell envelope protein, loricrin . Cell. 1990;61:1103-1112.Crossref 24. Roop DR, Cheng CK, Titterington L, et al. Synthetic peptides corresponding to keratin subunits elicit highly specific antibodies . J Biol Chem. 1984;259:8037-8040. 25. Thacher SM, Rice RH. Keratinocyte-specific transglutaminase of cultured human epidermal cells: relation to cross-linked envelope formation and terminal differentiation . Cell. 1985;40:685-695.Crossref 26. Banks-Schlegel S, Green H. Involucrin synthesis and tissue assembly by keratinoytes in natural and cultured human epithelia . J Cell Biol. 1981;90:732-737.Crossref 27. Watt FM. Involucrin and other markers of keratinocyte terminal differentiation . J Invest Dermatol. 1983;81:100s-103s.Crossref 28. Sybert V, Dale B, Holbrook K. Ichthyosis vulgaris: identification of a defect in synthesis of filaggrin correlated with an absence of keratohyaline granules . J Invest Dermatol. 1985;84: 191-194.Crossref 29. Michel S, Schmidt R, Shroot B, Reichert U. Morphological and biochemical characterization of the cornified envelopes from human epidermal keratinocytes of different origin . J Invest Dermatol. 1988; 91:11-15.Crossref 30. Michel S, Juhlin L. Cornified envelopes in congenital disorders of keratinization . Br J Dermatol. 1990;122:15-21.Crossref 31. Ando Y, Tanaka T, Horiguchi Y, Ikai K, Tomono H. Hidrotic ectodermal dysplasia: a clinical and ultrastructural observation . Dermatologica. 1988;176:205-211.Crossref 32. Reibel J, Clausen H, Dale B, Thacher S. Immunohistochemical analysis of stratum corneum components in oral squamous epithelia . Differentiation. 1989;41:237-244.Crossref 33. Parenteau NL, Eckert RL, Rice RH. Primate involucrins: antigenic relatedness and detection of multiple forms . Proc Natl Acad Sci U S A. 1987;84:7571-7575.Crossref 34. Schmidt R, Michel S, Shroot B, Reichert U. Transglutaminases in normal and transformed human keratinocytes . J Invest Dermatol. 1988;90:475-479.Crossref 35. Chakravarty R, Rice R. Acylation of keratinocyte transglutaminase by palmitic and myristic acids in the membrane anchorage regions . J Biol Chem. 1989;264:625-629. 36. Kim HC, Idler WW, Kim IG, Han JH, Chung SI, Steinert PM. The complete amino acid sequence of the human transglutaminase K enzyme deduced from the nucleic acid sequences of cDNA clones . J Biol Chem. 1991;266:536-539. 37. Swartzendruber DC, Wertz PW, Kitko DJ, Madison KS, Downing DT. Molecular models of the intercellular lipid lamellae in mammalian stratum corneum . J Invest Dermatol. 1989;92:251-257.Crossref 38. Farbman AI. Plasma membrane changes during keratinization . Anat Rec. 1966;156:269-282.Crossref 39. Thacher SM. Purification of keratinocyte transglutaminase and its expression during squamous differentiation . J Invest Dermatol. 1989;92:578-584. 40. Frenk E. A spontaneously healing collodion baby: a light and electron microscopical study . Acta Derm Venereol (Stockh) . 1981;61: 168-171.

Journal

Archives of DermatologyAmerican Medical Association

Published: May 1, 1993

References