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Ehlers-Danlos Type VII-C, or Human Dermatosparaxis: The Offspring of a Union Between Basic and Clinical Research

Ehlers-Danlos Type VII-C, or Human Dermatosparaxis: The Offspring of a Union Between Basic and... Abstract Elastic They are major manifestations of a condition that reached medical attention in the 17th century after being described by van Meek'ren,1 a Dutch surgeon. The disease is now called Ehlers-Danlos syndrome (EDS) after Ehlers2 and Danlos,3 who, in 1901 and 1908, respectively, described two patients who presented with abnormal rheological properties of skin and joints. The inherited pattern of the disease arose from the study of Johnson and Falls4 in 1949. Alteration of the structure of connective tissues in these patients was proposed by Jansen5 in 1955, at the time of the unveiling of the structure and metabolism of collagen. The numerous clinical reports contributed to the establishment of the heterogeneity of the syndrome, allowing Beighton6 to propose a classification that was cited and completed by McKusik7 in the fourth edition of his treatise entitled "Heritable Disorders of Connective Tissue." Thanks to precise clinical classification, genetic studies, and progress in the determination of the molecular basis of some forms of the disease, nine types of EDS can be defined at the present time.8 Among them is a disease characterized by extreme joint laxity that Haas and Haas9 had already suggested in 1958 should be considered a clinical entity, one that they called arthrochalasis multiplex congenita. It is now categorized as EDS type VII. References 1. van Meek'ren J. De dilatabilitate extraordinaria cutis in viro quodam Hispano . In: Blasio A, ed. Observationes Medico-Chirurgicae . Amsterdam, the Netherlands: Henrici & Viduae Theodori Boom; 1682:134-136. 2. Ehlers E. Cutis laxa, Neigung zu Haemorrhagien in der Haut, Lockerung mehrerer Artikulationen . Dermatol Z 1901;8:173-174. 3. Danlos HA. Un cas de cutis laxa avec tumeurs par contusion chronique des coudes et des genoux (xanthome juvénile pseudo-diabétique de MM Hallopeau et Macé de Lépinay) . Bull Soc Fr Dermatol Syphiligr. 1908;19:70-72. 4. Johnson SA, Falls HF. Ehlers-Danlos syndrome: a clinical and genetic study . Arch Dermatol Syphiligr. 1949;60:82-105.Crossref 5. Jansen LH. The structure of the connective tissue: an explanation of the symptoms of the Ehlers-Danlos syndrome . Dermatologica. 1955;110:108-120.Crossref 6. Beighton P. The Ehlers-Danlos Syndrome . London, England: Heinemann Medical Books Ltd; 1970. 7. McKusick VA. The Ehlers-Danlos syndrome . In: Heritable Disorders of Connective Tissue . 4th ed. St Louis, Mo: Mosby-Year Book; 1972:292-371. 8. Beighton P, De Paepe A, Hale JG, et al. Molecular nosology of heritable disorders of connective tissue . Am J Med Genet. 1992;42:431-448.Crossref 9. Hass J, Hass R. Arthrochalasis multiplex congenita . J Bone Joint Surg Am. 1958;40:663-674. 10. Hanset R, Ansay M. Dermatosparaxie (peau déchirée) chez le veau: un défaut général du tissu conjonctif, de nature héréditaire . Ann Med Vet. 1967;7:451-470. 11. O'Hara PJ, Read WK, Romane WM, Bridges CH. A collagenous tissue dysplasia of calves . Lab Invest. 1970;23:307-314. 12. Lenaers A, Ansay M, Nusgens BV, Lapière CM. Collagen made of extended α-chains, procollagen, in genetically defective dermatosparaxic calves . Eur J Biochem. 1971;23:533-543.Crossref 13. Layman DL, McGoodwin EB, Martin GR. The nature of the collagen synthesized by cultured human fibroblasts . Proc Natl Acad Sci U S A 1971; 68:454-458.Crossref 14. Speakman PT. Proposed mechanism for the biological assembly of collagen triple helix . Nature . 1971; 229:241-243.Crossref 15. Lapière CM, Lenaers A, Kohn LD. Procollagen peptidase: an enzyme excising the coordination peptides of procollagen . Proc Natl Acad Sci USA. 1971; 68:3054-3058.Crossref 16. Lichtenstein JR, Martin GR, Kohn LD, Byers PH, McKusick VA. Defect in conversion of procollagen to collagen in a form of Ehlers-Danlos syndrome . Science. 1973;182:298-300.Crossref 17. Steinman B, Tuderman L, Peltonen L, Martin GR, McKusick VA, Prockop DJ. Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII . J Biol Chem. 1980;255:8887-8893. 18. Cole WG, Chan D, Chambers GW, Walker ID, Bateman JF. Deletion of 24 amino acids from the pro-α1 (I) chain of type I procollagen in a patient with the Ehlers-Danlos syndrome type VII . J Biol Chem. 1986; 261:5496-5503. 19. Steinman B, Royce PM, Superti-Furga A. The Ehlers-Danlos syndrome . In: Royce PM, Steinman B, eds. Connective Tissue and Its Heritable Disorders; Molecular, Genetic and Medical Aspects . New York, NY: Wiley-Liss Inc; 1992:351-407. 20. Fjolstad M, Helle O. A hereditary dysplasia of collagen tissues in sheep . J Pathol. 1974;112:183-188.Crossref 21. Counts DF, Byers PH, Holbrook KA, Hegreberg GA. Dermatosparaxis in a Himalayan cat, I: biochemical studies of dermal collagen . J Invest Dermatol. 1980;74:96-99.Crossref 22. Smith LT, Wertelecki W, Jenkins TG, Byers PH. Human dermatosparaxis . J Invest Dermatol. 1991;96: 540. Abstract. 23. Nusgens BV, Verellen-Dumoulin C, Hermanns-Le T, et al. Evidence for a relationship between Ehlers-Danlos type VIIC in humans and bovine dermatosparaxis . Nature Genet. 1992;1:214-217.Crossref 24. Smith LT, Wertelecki W, Milstone LM, et al. Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the aminoterminal propeptide of type I procollagen . Am J Med Genet. 1992;51:235-244. 25. Petty EM, Seashore MR, Braverman IM, Spiesel SZ, Smith LT, Milstone LM. Dermatosparaxis in children: a case report and review of the newly recognized phenotype . Arch Dermatol. 1993;129:1310-1315.Crossref 26. Piérard GE, Lapière CM. Skin aging in dermatosparaxis, remodeling of the procollagen network in the dermis . Cytobiologie. 1975;11:329-330. 27. Becker V, Timpl R, Helle O, Prockop DJ. NH2-terminal extensions on skin collagen from sheep with a genetic defect in conversion of procollagen into collagen . Biochemistry. 1976;15:2853-2862.Crossref 28. Ramshaw JAM. A mild form of ovine dermatosparaxis . Coll Relat Res. 1984;4:441-451.Crossref 29. Hojima Y, van der Rest M, Prockop DJ. Type I procollagen carboxy-terminal proteinase from chick embryo tendons . J Biol Chem. 1985;260:15996-16003. 30. Nusgens BV, Goebels Y, Shinkai H, Lapière CM. Procollagen type III N-terminal endopeptidase in fibroblast culture . Biochem J. 1980;191:699-706. 31. Holmes DF, Mould AP, Chapman JA. Morphology of sheet-like assemblies of pN-collagen, pC-collagen and procollagen studied by scanning transmission electron microscopy mass measurements . J Mol Biol. 1991;220:111-123.Crossref 32. Mosler E, Folkhard W, Geercken W, et al. The macromolecular structure of collagen in tendon fibers of dermatosparactic animals . ZNaturforsch C. 1986; 41C:489-492. 33. Hulmes DJS, Kadler KE, Mould AP, et al. Pleomorphism in type I collagen fibrils produced by persistence of the procollagen N-propeptide . J Mol Biol. 1989;210:337-345.Crossref 34. D'Alessio M, Ramirez F, Blumberg BD, et al. Characterization of a COLIA1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity . Am J Med Genet. 1991;49:400-406. 35. Weil D, D'Alessio M, Ramirez F, et al. Temperaturedependent expression of a collagen splicing defect in the fibroblasts of a patient with Ehlers-Danlos syndrome type VII . J Biol Chem. 1989;264:16804-16809. 36. Piérard GE, Lapière CM. Skin in dermatosparaxis: dermal microarchitecture and biomechanical properties . J Invest Dermatol. 1976;66:2-7.Crossref 37. Bailey AJ, Lapière CM. Effect of an additional peptide extension of the N-terminus of collagen from dermatosparactic calves on the cross-linking of the collagen fibres . Eur J Biochem. 1973;34:91-96.Crossref 38. Levene CI, Gross J. Alteration in state of molecular aggregation of collagen induced in chick embryos by β-aminopropionitrile (Lathyrus factor) . J Exp Med. 1959;110:771-780.Crossref 39. Piérard GE, Le T, Hermanns JF, Nusgens BV, Lapière CM. Morphometric study of cauliflower collagen fibrils in dermatosparaxis of the calves . Coll Relat Res. 1987;6:481-492.Crossref 40. Piérard GE, Hermanns-Le T, Arrese-Estrada J, Piérard-Franchimont C, Lapière CM. Structure of the dermis in type VIIC Ehlers-Danlos syndrome . Am J Dermatopathol. 1993;15:127-132.Crossref 41. Matsunaga E, Shinkai H, Nusgens B, Lapière CM. Acidic glycosaminoglycans, isolation and structural analysis of a proteodermatan sulfate from dermatosparactic calf skin . Coll Relat Res. 1986;6:467-479.Crossref 42. Mauch C, Aumailley M, Paye M, Lapière CM, Timpl R, Krieg T. Defective attachment of dermatosparactic fibroblasts to collagens I and IV . Exp Cell Res. 1986;163:294-300.Crossref 43. Mauch C, von der Mark K, Helle O, Mollenhauer J, Pfäffle M, Krieg T. A defective cell surface collagen-binding protein in dermatosparactic sheep fibroblasts . J Cell Biol. 1988;106:205-211.Crossref 44. Delvoye P, Nusgens B, Lapière CM. The capacity of retracting a collagen matrix is lost by dermatosparactic skin fibroblasts . J Invest Dermatol. 1983;81: 267-270.Crossref 45. Delvoye P, Mauch C, Krieg T, Lapière CM. Contraction of collagen lattices by fibroblasts from patients and animals with heritable disorders of connective tissue . Br J Dermatol. 1986;115:139-146.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Dermatology American Medical Association

Ehlers-Danlos Type VII-C, or Human Dermatosparaxis: The Offspring of a Union Between Basic and Clinical Research

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American Medical Association
Copyright
Copyright © 1993 American Medical Association. All Rights Reserved.
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0003-987X
eISSN
1538-3652
DOI
10.1001/archderm.1993.01680310086015
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Abstract

Abstract Elastic They are major manifestations of a condition that reached medical attention in the 17th century after being described by van Meek'ren,1 a Dutch surgeon. The disease is now called Ehlers-Danlos syndrome (EDS) after Ehlers2 and Danlos,3 who, in 1901 and 1908, respectively, described two patients who presented with abnormal rheological properties of skin and joints. The inherited pattern of the disease arose from the study of Johnson and Falls4 in 1949. Alteration of the structure of connective tissues in these patients was proposed by Jansen5 in 1955, at the time of the unveiling of the structure and metabolism of collagen. The numerous clinical reports contributed to the establishment of the heterogeneity of the syndrome, allowing Beighton6 to propose a classification that was cited and completed by McKusik7 in the fourth edition of his treatise entitled "Heritable Disorders of Connective Tissue." Thanks to precise clinical classification, genetic studies, and progress in the determination of the molecular basis of some forms of the disease, nine types of EDS can be defined at the present time.8 Among them is a disease characterized by extreme joint laxity that Haas and Haas9 had already suggested in 1958 should be considered a clinical entity, one that they called arthrochalasis multiplex congenita. It is now categorized as EDS type VII. References 1. van Meek'ren J. De dilatabilitate extraordinaria cutis in viro quodam Hispano . In: Blasio A, ed. Observationes Medico-Chirurgicae . Amsterdam, the Netherlands: Henrici & Viduae Theodori Boom; 1682:134-136. 2. Ehlers E. Cutis laxa, Neigung zu Haemorrhagien in der Haut, Lockerung mehrerer Artikulationen . Dermatol Z 1901;8:173-174. 3. Danlos HA. Un cas de cutis laxa avec tumeurs par contusion chronique des coudes et des genoux (xanthome juvénile pseudo-diabétique de MM Hallopeau et Macé de Lépinay) . Bull Soc Fr Dermatol Syphiligr. 1908;19:70-72. 4. Johnson SA, Falls HF. Ehlers-Danlos syndrome: a clinical and genetic study . Arch Dermatol Syphiligr. 1949;60:82-105.Crossref 5. Jansen LH. The structure of the connective tissue: an explanation of the symptoms of the Ehlers-Danlos syndrome . Dermatologica. 1955;110:108-120.Crossref 6. Beighton P. The Ehlers-Danlos Syndrome . London, England: Heinemann Medical Books Ltd; 1970. 7. McKusick VA. The Ehlers-Danlos syndrome . In: Heritable Disorders of Connective Tissue . 4th ed. St Louis, Mo: Mosby-Year Book; 1972:292-371. 8. Beighton P, De Paepe A, Hale JG, et al. Molecular nosology of heritable disorders of connective tissue . Am J Med Genet. 1992;42:431-448.Crossref 9. Hass J, Hass R. Arthrochalasis multiplex congenita . J Bone Joint Surg Am. 1958;40:663-674. 10. Hanset R, Ansay M. Dermatosparaxie (peau déchirée) chez le veau: un défaut général du tissu conjonctif, de nature héréditaire . Ann Med Vet. 1967;7:451-470. 11. O'Hara PJ, Read WK, Romane WM, Bridges CH. A collagenous tissue dysplasia of calves . Lab Invest. 1970;23:307-314. 12. Lenaers A, Ansay M, Nusgens BV, Lapière CM. Collagen made of extended α-chains, procollagen, in genetically defective dermatosparaxic calves . Eur J Biochem. 1971;23:533-543.Crossref 13. Layman DL, McGoodwin EB, Martin GR. The nature of the collagen synthesized by cultured human fibroblasts . Proc Natl Acad Sci U S A 1971; 68:454-458.Crossref 14. Speakman PT. Proposed mechanism for the biological assembly of collagen triple helix . Nature . 1971; 229:241-243.Crossref 15. Lapière CM, Lenaers A, Kohn LD. Procollagen peptidase: an enzyme excising the coordination peptides of procollagen . Proc Natl Acad Sci USA. 1971; 68:3054-3058.Crossref 16. Lichtenstein JR, Martin GR, Kohn LD, Byers PH, McKusick VA. Defect in conversion of procollagen to collagen in a form of Ehlers-Danlos syndrome . Science. 1973;182:298-300.Crossref 17. Steinman B, Tuderman L, Peltonen L, Martin GR, McKusick VA, Prockop DJ. Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII . J Biol Chem. 1980;255:8887-8893. 18. Cole WG, Chan D, Chambers GW, Walker ID, Bateman JF. Deletion of 24 amino acids from the pro-α1 (I) chain of type I procollagen in a patient with the Ehlers-Danlos syndrome type VII . J Biol Chem. 1986; 261:5496-5503. 19. Steinman B, Royce PM, Superti-Furga A. The Ehlers-Danlos syndrome . In: Royce PM, Steinman B, eds. Connective Tissue and Its Heritable Disorders; Molecular, Genetic and Medical Aspects . New York, NY: Wiley-Liss Inc; 1992:351-407. 20. Fjolstad M, Helle O. A hereditary dysplasia of collagen tissues in sheep . J Pathol. 1974;112:183-188.Crossref 21. Counts DF, Byers PH, Holbrook KA, Hegreberg GA. Dermatosparaxis in a Himalayan cat, I: biochemical studies of dermal collagen . J Invest Dermatol. 1980;74:96-99.Crossref 22. Smith LT, Wertelecki W, Jenkins TG, Byers PH. Human dermatosparaxis . J Invest Dermatol. 1991;96: 540. Abstract. 23. Nusgens BV, Verellen-Dumoulin C, Hermanns-Le T, et al. Evidence for a relationship between Ehlers-Danlos type VIIC in humans and bovine dermatosparaxis . Nature Genet. 1992;1:214-217.Crossref 24. Smith LT, Wertelecki W, Milstone LM, et al. Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the aminoterminal propeptide of type I procollagen . Am J Med Genet. 1992;51:235-244. 25. Petty EM, Seashore MR, Braverman IM, Spiesel SZ, Smith LT, Milstone LM. Dermatosparaxis in children: a case report and review of the newly recognized phenotype . Arch Dermatol. 1993;129:1310-1315.Crossref 26. Piérard GE, Lapière CM. Skin aging in dermatosparaxis, remodeling of the procollagen network in the dermis . Cytobiologie. 1975;11:329-330. 27. Becker V, Timpl R, Helle O, Prockop DJ. NH2-terminal extensions on skin collagen from sheep with a genetic defect in conversion of procollagen into collagen . Biochemistry. 1976;15:2853-2862.Crossref 28. Ramshaw JAM. A mild form of ovine dermatosparaxis . Coll Relat Res. 1984;4:441-451.Crossref 29. Hojima Y, van der Rest M, Prockop DJ. Type I procollagen carboxy-terminal proteinase from chick embryo tendons . J Biol Chem. 1985;260:15996-16003. 30. Nusgens BV, Goebels Y, Shinkai H, Lapière CM. Procollagen type III N-terminal endopeptidase in fibroblast culture . Biochem J. 1980;191:699-706. 31. Holmes DF, Mould AP, Chapman JA. Morphology of sheet-like assemblies of pN-collagen, pC-collagen and procollagen studied by scanning transmission electron microscopy mass measurements . J Mol Biol. 1991;220:111-123.Crossref 32. Mosler E, Folkhard W, Geercken W, et al. The macromolecular structure of collagen in tendon fibers of dermatosparactic animals . ZNaturforsch C. 1986; 41C:489-492. 33. Hulmes DJS, Kadler KE, Mould AP, et al. Pleomorphism in type I collagen fibrils produced by persistence of the procollagen N-propeptide . J Mol Biol. 1989;210:337-345.Crossref 34. D'Alessio M, Ramirez F, Blumberg BD, et al. Characterization of a COLIA1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity . Am J Med Genet. 1991;49:400-406. 35. Weil D, D'Alessio M, Ramirez F, et al. Temperaturedependent expression of a collagen splicing defect in the fibroblasts of a patient with Ehlers-Danlos syndrome type VII . J Biol Chem. 1989;264:16804-16809. 36. Piérard GE, Lapière CM. Skin in dermatosparaxis: dermal microarchitecture and biomechanical properties . J Invest Dermatol. 1976;66:2-7.Crossref 37. Bailey AJ, Lapière CM. Effect of an additional peptide extension of the N-terminus of collagen from dermatosparactic calves on the cross-linking of the collagen fibres . Eur J Biochem. 1973;34:91-96.Crossref 38. Levene CI, Gross J. Alteration in state of molecular aggregation of collagen induced in chick embryos by β-aminopropionitrile (Lathyrus factor) . J Exp Med. 1959;110:771-780.Crossref 39. Piérard GE, Le T, Hermanns JF, Nusgens BV, Lapière CM. Morphometric study of cauliflower collagen fibrils in dermatosparaxis of the calves . Coll Relat Res. 1987;6:481-492.Crossref 40. Piérard GE, Hermanns-Le T, Arrese-Estrada J, Piérard-Franchimont C, Lapière CM. Structure of the dermis in type VIIC Ehlers-Danlos syndrome . Am J Dermatopathol. 1993;15:127-132.Crossref 41. Matsunaga E, Shinkai H, Nusgens B, Lapière CM. Acidic glycosaminoglycans, isolation and structural analysis of a proteodermatan sulfate from dermatosparactic calf skin . Coll Relat Res. 1986;6:467-479.Crossref 42. Mauch C, Aumailley M, Paye M, Lapière CM, Timpl R, Krieg T. Defective attachment of dermatosparactic fibroblasts to collagens I and IV . Exp Cell Res. 1986;163:294-300.Crossref 43. Mauch C, von der Mark K, Helle O, Mollenhauer J, Pfäffle M, Krieg T. A defective cell surface collagen-binding protein in dermatosparactic sheep fibroblasts . J Cell Biol. 1988;106:205-211.Crossref 44. Delvoye P, Nusgens B, Lapière CM. The capacity of retracting a collagen matrix is lost by dermatosparactic skin fibroblasts . J Invest Dermatol. 1983;81: 267-270.Crossref 45. Delvoye P, Mauch C, Krieg T, Lapière CM. Contraction of collagen lattices by fibroblasts from patients and animals with heritable disorders of connective tissue . Br J Dermatol. 1986;115:139-146.Crossref

Journal

Archives of DermatologyAmerican Medical Association

Published: Oct 1, 1993

References