The Ultrastructural and Histophotometric Study of Elastic and Collagen Fibers in Type II Ehlers-Danlos Syndrome and Subclinical Forms

References

• Yeowell HN, Pinnel SR. The Ehlers-Danlos syndromes. Semin Dermat. 1993; 12: 229–240.
   Google Scholar
• Paradisi M, Giubiliei L, Canzona F, Angelo C, et al. Sindrome di Ehlers-Danlos tipo I. Studio ultrastructurale. Miner Ped. 1997; 49: 215–219.
   Google Scholar
• Pierard GE, Franchimont-Pierard C, LapieÁre CM. Histopathological aid at the diagnosis of the Ehlers-Danlos syndrome, gravis and mitis types. Int J Dermat. 1983; 22: 300–304.
   Google Scholar
• Byers, PH. Ehlers-Danlos syndrome: Recent advances and current understanding of the clinical and genetic heterogeneity. J Invest Dermatol. 1994;103(suppl):47s-52s.
   Google Scholar
• Byers PH. Ehlers-Danlos syndrome: A genetic disorder in many guises. J Invest Dermatol. 1995; 105: 311–313.
   Google Scholar
• Pope FM, Burrows NP. Ehlers-Danlos syndrome has varied molecular mechanisms. J Med Gen. 1997; 34: 400–410.
   Google Scholar
• Germain D. Les syndromes d’Ehlers-Danlos. Aspects cliniques, geÂneÂtiques et moleÂculaires. Ann Dermat VenereÂol. 1995; 122: 187–204.
   Google Scholar
• Burton JL. Disorders of connective tissue. In: Rook AJ, Wilkinson DS, Ebling FJG, eds. Textbook of Dermatology. Oxford: Blackwell; 1992: 1763–1825.
   Google Scholar
• Pinnel SR, Mackusick VA. Transtornos hereditarios del tejido conectivo com alteraciones cutaÂneas. In: Fitzpatrick TB, Eisen AZ, Wolff K, Freedberg IN, Austen KF, eds. Dermatologia en medicina general. Buenos Aires: Panamericana; 1988: 1962–1978.
   Google Scholar
• Hausser I, Anton-Lamprecht I. Differential ultrastructural aberrations of collagen ®brils in Ehlers-Danlos syndrome types I-IV as a means of diagnostics and classi®cation. Hum Gen. 1994; 3: 394–407.
   Google Scholar
• Aumailley M, Krieg T, Dessau W, Müller PK, et al. Biochemical and immunological studies of ®broblasts derived from a patient with Ehlers-Danlos syndrome type IV. Arch Dermatol Res. 1980; 269: 169–177.
   Google Scholar
• Uitto J, Lichtenstein JR. Defects in the biochemistry of collagen in diseases of connective tissue. J Invest Dermatol. 1976; 66: 59–79.
   Google Scholar
• Holzberg M, Hewan-Lowe KO, Olanski A. The Ehlers-Danlos syndrome: recognition, characterizatio n and importance of a midler variant of the classic form. J Am Acad Dermatol. 1988; 19: 656–666.
   Google Scholar
• McCarthy DJ. Differential diagnosis of arthritis: analysis of signs and symptoms. In: McCarty DJ, ed. Arthritis and allied conditions. A textbook of rheumatology. Philadelphia: Lea & Febiger; 1989: 55–68.
   Google Scholar
• Rasch EM, Rasch RW. Special applications of two-wavelength cytophotometry in biologic systems. In: Wied GL, Bahr GF, eds. Introduction to quantitative cytochemistry- II. New York: Academic Press, Inc; 1970: 297–333.
   Google Scholar
• Breathnach AS. An atlas of the ultrastructure of human skin. Development, differentiation and post- natal features. London: J & A Churchil, 1971.
   Google Scholar
• Pierard GE, Franchimont-Pierard C, LapieÁre CM. Histopathological aid at the diagnosis of the Ehlers-Danlos syndrome, gravis and mitis types. Int J Dermatol. 1983; 22: 300–304.
   Google Scholar
• Krieg T, Ihme A, Weber L, Kirsh E & Mueller PK. Molecular defects of collagen metabolism in the Ehlers-Danlos syndrome. Int J Dermatol. 1981; 20:415–425.
   Google Scholar
• Arneson MA, Hammerschimidt DE, Furcht LT, King RA. A new form of Ehlers-Danlos syndrome. Fibronectin corrects defective platelet function. JAMA. 1980; 244: 144–147.
   Google Scholar
• Wechler HL, Fischer ER. Ehlers-Danlos syndrome. Pathologic, histochemical, and electron microscopic observations. Arch Pathol. 1964; 77: 613–619.
   Google Scholar
• Kobayasi T, Oguchi M, Asboe-Hansen G. Dermal changes in Ehlers-Danlos syndrome. Clin Gen. 1984; 25: 477–484.
   Google Scholar
• Oxlund H. Relationships between the biomechanical properties, composition and molecular structure of connective tissues. Connect Tissue Res. 1986; 15: 65–72.
   Google Scholar
• Ridge MD, Wright V. Mechanical properties of skin: a bioengineering study of skin structure. J Appl Physiol, 1966; 21: 1602–1606.
   Google Scholar
• Wright V. Biophysical properties of skin. London: Wiley Interscience, 1971.
   Google Scholar
• Grahame R, Beigthon P. Physical properties of the skin in the Ehlers-Danlos syndrome. Ann Rheum Dis. 1969;246–251.
   Google Scholar
• Black CM, Gathercole LJ, Bailey AJ, Beighton P. The Ehlers-Danlos syndrome: an analysis of the structure of the collagen ®bers of the skin. Br J Dermatol. 1980; 102: 85–96.
   Google Scholar
• Gibson T, Kenedi RM, Craik JE. The mobile micro-architecture of dermal collagen. A bio-engineering study. Br J Surg. 1965; 52: 764–770.
   Google Scholar
• Vogel A, Holbrook KA, Steinmann B, Gitzelmann R, Byers PH. Abnormal collagen ®bril structure in gravis form (type I) of Ehlers-Danlos syndrome. Lab Invest. 1979; 40: 201–206.
   Google Scholar
• Holbrook KA, Byers PH. Ultrastructural characteristics of the skin in a form of the Ehlers-Danlos syndrome type IV. Storage in the rough endoplasmic reticulum. Lab Invest. 1981; 44: 342–350.
   Google Scholar
• Holbrook KA, Byers PH. Structural abnormalities in the dermal collagen and elastic matrix from the skin of patients with inherited connective tissue disorders. J Invest Dermatol. 1982;79(suppl 1):7s-16s.
   Google Scholar
• Holbrook KA, Byers PH. Skin is a window on hereditable disorders of connective tissue. Am J Med Gen. 1989; 34: 105–121.
   Google Scholar
• Minor R. Collagen metabolism. A comparison of diseases of collagen and diseases affecting collagen. Am J Pathol. 1980; 98: 227–280.
   Google Scholar
• Louglin J, Irven C, Hardwick LJ, Butcher S, et al. Linkage of the gene that encodes the a1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II). Hum Mol Gen. 1995; 4: 1649–1651.
   Google Scholar