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D. Layman, E. McGoodwin, G. Martin (1971)
The nature of the collagen synthesized by cultured human fibroblasts.Proceedings of the National Academy of Sciences of the United States of America, 68 2
C. Mauch, M. Aumailley, M. Paye, C. Lapière, R. Timpl, T. Krieg (1986)
Defective attachment of dermatosparactic fibroblasts to collagens I and IV.Experimental cell research, 163 2
D. Counts, P. Byers, K. Holbrook, G. Hegreberg (1980)
Dermatosparaxis in a Himalayan cat: I. Biochemical studies of dermal collagen.The Journal of investigative dermatology, 74 2
McKusick VA (1972)
Heritable Disorders of Connective Tissue
Dominique WeilSQ, Marina D’AlessioST, Francesco RamirezS, Beat Steinmann, Mary, K., WirtzSS, Robert, W., GlanvilleS, David HollisterSSQQTT (1989)
Temperature-dependent expression of a collagen splicing defect in the fibroblasts of a patient with Ehlers-Danlos syndrome type VII.The Journal of biological chemistry, 264 28
Cornelia Mauch, Klaus Mark, dvar Helle, Jiirgen Mollenhauer (1988)
A defective cell surface collagen-binding protein in dermatosparactic sheep fibroblastsThe Journal of Cell Biology, 106
U. Becker, R. Timpl (1976)
NH2-terminal extensions on skin collagen from sheep with a genetic defect in conversion of procollagen into collagen.Biochemistry, 15 13
Y. Hojima, M. Rest, D. Prockop (1985)
Type I procollagen carboxyl-terminal proteinase from chick embryo tendons. Purification and characterization.The Journal of biological chemistry, 260 29
Lynne Smith, Wladimir Wertelecki, Leonard Milstone, Elizabeth Petty, M. Seashore, Irwin Braverman, Thomas Jenkins, H. Peter, Byerst (1992)
Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen.American journal of human genetics, 51 2
J. Lichtenstein, G. Martin, L. Kohn, P. Byers, V. McKusick (1973)
Defect in Conversion of Procollagen to Collagen in a Form of Ehlers-Danlos SyndromeScience, 182
D. Hulmes, K. Kadler, A. Mould, Y. Hojima, D. Holmes, C. Cummings, J. Chapman, D. Prockop (1989)
Pleomorphism in type I collagen fibrils produced by persistence of the procollagen N-propeptide.Journal of molecular biology, 210 2
Elizabeth Petty, M. Seashore, I. Braverman, Sydney Spiesel, Lynne Smith, L. Milstone (1993)
Dermatosparaxis in children. A case report and review of the newly recognized phenotype.Archives of dermatology, 129 10
P. O'Hara, W. Read, W. Romane, C. Bridges (1970)
A collagenous tissue dysplasia of calves.Laboratory investigation; a journal of technical methods and pathology, 23 3
G. Piérard, T. Le, J. Hermanns, B. Nusgens, C. Lapière (1987)
Morphometric study of cauliflower collagen fibrils in dermatosparaxis of the calves.Collagen and related research, 6 6
J. Ramshaw (1984)
A mild form of ovine dermatosparaxis.Collagen and related research, 4 6
Wertelecki W Smith LT (1991)
Human dermatosparaxisJ Invest Dermatol., 96
P. Delvoye, C. Mauch, T. Krieg, C. Lapière (1986)
Contraction of collagen lattices by fibroblasts from patients and animals with heritable disorders of connective tissueBritish Journal of Dermatology, 115
Lapière CM Piérard GE (1975)
Skin aging in dermatosparaxis, remodeling of the procollagen network in the dermisCytobiologie., 11
P. Speakman (1971)
Proposed Mechanism for the Biological Assembly of Collagen Triple HelixNature, 229
A. Lenaers, M. Ansay, B. Nusgens, C. Lapière (1971)
Collagen made of extended -chains, procollagen, in genetically-defective dermatosparaxic calves.European journal of biochemistry, 23 3
E. Mosler, W. Folkhard, W. Geercken, O. Helle, E. Knorzer, M. Koch, H. Nemetschek-Gansler, B. Nusgens, B. Nusgens, C. Lapière (1986)
The Macromolecular Structure of Collagen in Tendon Fibres of Dermatosparactic AnimalsZeitschrift für Naturforschung C, 41
Wertelecki W Smith LT (1992)
Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the aminoterminal propeptide of type I procollagenAm J Med Genet., 51
G. Piérard, M. Lapiere (1976)
Skin in dermatosparaxis. Dermal microarchitecture and biomechanical properties.The Journal of investigative dermatology, 66 1
Ramirez F D'Alessio M (1991)
Characterization of a COLIA1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneityAm J Med Genet., 49
W. Cole, D. Chan, G. Chambers, I. Walker, J. Bateman (1986)
Deletion of 24 amino acids from the pro-alpha 1(I) chain of type I procollagen in a patient with the Ehlers-Danlos syndrome type VII.The Journal of biological chemistry, 261 12
G. Piérard, T. Hermanns‐Lê, J. Arrese-Estrada, C. Piérard‐franchimont, C. Lapière (1993)
Structure of the Dermis in Type VIIC Ehlers—Danlos SyndromeThe American Journal of Dermatopathology, 15
S. Johnson, H. Falls (1949)
Ehlers-Danlos syndrome; a clinical and genetic study.Archives of dermatology and syphilology, 60 1
Danlos HA (1908)
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., 19
Ehlers E (1901)
Cutis laxa, Neigung zu Haemorrhagien in der Haut, Lockerung mehrerer ArtikulationenDermatol Z, 8
B. Steinmann, L. Tuderman, L. Peltonen, G. Martin, V. McKusick, D. Prockop (1980)
Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII.The Journal of biological chemistry, 255 18
Royce PM Steinman B (1992)
Connective Tissue and Its Heritable Disorders
B. Nusgens, C. Dumoulin, T. Hermanns‐Lê, A. Depaepe, L. Nuytinck, Piérard Ge, C. Lapière (1992)
Evidence for a relationship between Ehlers–Danlos type VII C in humans and bovine dermatosparaxisNature Genetics, 1
L. Jansen (1955)
The structure of the connective tissue, an explanation of the symptoms of the Ehlers-Danlos syndrome.Dermatologica, 110 2
A. Bailey, C. Lapière (1973)
Effect of an additional peptide extension of the N-terminus of collagen from dermatosparactic calves on the cross-linking of the collagen fibres.European journal of biochemistry, 34 1
van der Rest M Hojima Y (1985)
Type I procollagen carboxy-terminal proteinase from chick embryo tendonsJ Biol Chem., 260
C. Levene, J. Gross (1959)
ALTERATIONS IN STATE OF MOLECULAR AGGREGATION OF COLLAGEN INDUCED IN CHICK EMBRYOS BY β-AMINOPROPIONITRILE (LATHYRUS FACTOR)The Journal of Experimental Medicine, 110
J. Hass, R. Hass (1958)
Arthrochalasis multiplex congenita; congenital flaccidity of the joints.The Journal of bone and joint surgery. American volume, 40-A 3
Marina D'Alessio, Francesco Ramirez, Bruce Blumberg, M. Wirtz, Validi Rao, Maurice Godfrey, David Hollister (1991)
Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity.American journal of human genetics, 49 2
Peter Beighton, A. Paepe, Judith Hall, David Hollister, F. Pope, Reed Pyeritz, Beat Steinmann, Petros Tsipouras (1992)
Molecular nosology of heritable disorders of connective tissue.American journal of medical genetics, 42 4
Hass R Hass J (1958)
Arthrochalasis multiplex congenitaJ Bone Joint Surg Am., 40
B. Nusgens, Y. Goebels, H. Shinkai, C. Lapière (1980)
Procollagen type III N-terminal endopeptidase in fibroblast culture.The Biochemical journal, 191 3
Ansay M Hanset R (1967)
Dermatosparaxie (peau déchirée) chez le veau: un défaut général du tissu conjonctif, de nature héréditaireAnn Med Vet., 7
Pierre. Delvoye, B. Nusgens, C. Lapière (1983)
The capacity of retracting a collagen matrix is lost by dermatosparactic skin fibroblasts.The Journal of investigative dermatology, 81 3
David Holmes, A. Mould, John Chapman (1991)
Morphology of sheet-like assemblies of pN-collagen, pC-collagen and procollagen studied by scanning transmission electron microscopy mass measurements.Journal of molecular biology, 220 1
C. Lapière, A. Lenaers, L. Kohn (1971)
Procollagen peptidase: an enzyme excising the coordination peptides of procollagen.Proceedings of the National Academy of Sciences of the United States of America, 68 12
P. Beighton (1970)
The Ehlers-Danlos syndrome
E. Matsunaga, H. Shinkai, B. Nusgens, C. Lapière (1987)
Acidic glycosaminoglycans, isolation and structural analysis of a proteodermatan sulfate from dermatosparactic calf skin.Collagen and related research, 6 6
Folkhard W Mosler E (1986)
The macromolecular structure of collagen in tendon fibers of dermatosparactic animalsZNaturforsch C., 41C
M. Fjølstad, O. Helle (1974)
A hereditary dysplasia of collagen tissues in sheepThe Journal of Pathology, 112
van Meek'ren J
Observationes Medico-Chirurgicae, 1682
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
Archives of Dermatology – American Medical Association
Published: Oct 1, 1993
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