The Ehlers-Danlos syndrome: an analysis of the structure of the collagen fibres of the skin
CAROL M. BLACK
Hammersmith Hospital, London W 12 , Department of Physics, University of Bristol, Agricultural Research Council, Langford, Bristol, and Department of Human Genetics, University of Cape Town, South Africa
Search for more papers by this authorL. J. GATHERCOLE
Hammersmith Hospital, London W 12 , Department of Physics, University of Bristol, Agricultural Research Council, Langford, Bristol, and Department of Human Genetics, University of Cape Town, South Africa
Search for more papers by this authorA. J. BAILEY
Hammersmith Hospital, London W 12 , Department of Physics, University of Bristol, Agricultural Research Council, Langford, Bristol, and Department of Human Genetics, University of Cape Town, South Africa
Search for more papers by this authorP. BEIGHTON
Hammersmith Hospital, London W 12 , Department of Physics, University of Bristol, Agricultural Research Council, Langford, Bristol, and Department of Human Genetics, University of Cape Town, South Africa
Search for more papers by this authorCAROL M. BLACK
Hammersmith Hospital, London W 12 , Department of Physics, University of Bristol, Agricultural Research Council, Langford, Bristol, and Department of Human Genetics, University of Cape Town, South Africa
Search for more papers by this authorL. J. GATHERCOLE
Hammersmith Hospital, London W 12 , Department of Physics, University of Bristol, Agricultural Research Council, Langford, Bristol, and Department of Human Genetics, University of Cape Town, South Africa
Search for more papers by this authorA. J. BAILEY
Hammersmith Hospital, London W 12 , Department of Physics, University of Bristol, Agricultural Research Council, Langford, Bristol, and Department of Human Genetics, University of Cape Town, South Africa
Search for more papers by this authorP. BEIGHTON
Hammersmith Hospital, London W 12 , Department of Physics, University of Bristol, Agricultural Research Council, Langford, Bristol, and Department of Human Genetics, University of Cape Town, South Africa
Search for more papers by this authorSUMMARY
The structure of the collagen fibres of the skin in the Ehlers-Danlos syndrome (ED-S) was studied in eight patients with ED-S Type I., three patients with ED-S Type II and three patients with the X-linked Type V.
The results show that the reducible cross-links are present and undergo the same maturation process to non-reducible cross-links as in normal skin. Transmission electron microscopy revealed a normal ultrastructure of the collagen fibrils. At a higher morphological level of organization scanning electron microscopy demonstrated progressive increase in fibre bundle disorder from the X-linked to mitis, to gravis, in which the fibres making up the large fibre bundles demonstrated a considerable inability to aggregate.
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