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"L'acropathie ulcéro-mutilante familiale" with involvement of the distal mixed nereves and long bones fractures

, : "L'acropathie ulcéro-mutilante familiale" with involvement of the distal mixed nereves and long bones fractures. Journal of Neurology, Neurosurgery, and Psychiatry 36(4): 585-591

Two siblings are described with mutilating lesions of the feet and hands, with sensory disturbances and muscle amyotrophy. The motor and afferent nerve conduction velocities were at the lower limit of normal. The nerve action potentials disappeared, first with percutaneous stimulation of the fingers and later with more proximal direct nerve stimulation. Early in the course of the illness indolent fracture of different long bones appeared in both cases. Histology revealed severe loss of nerve fibres, especially of the thin nonmyelinated ones. Excessive proliferation of Schwann sheaths and endoneurium exceeded the amount of the usual reparation for loss of nerve fibres and could be considered as a specific feature. Obliterative vasculopathy also belongs to the picture of changes in the nerves, skin, and bones.


PMID: 4125962

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