"L'acropathie ulcéro-mutilante familiale" with involvement of the distal mixed nereves and long bones fractures
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...
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| Veröffentlicht in: | Journal of neurology, neurosurgery and psychiatry neurosurgery and psychiatry, 1973-08, Vol.36 (4), p.585-591 |
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| container_end_page | 591 |
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| container_issue | 4 |
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| container_title | Journal of neurology, neurosurgery and psychiatry |
| container_volume | 36 |
| creator | Jusic, A Radosevic, Z Grcevic, N Hlavka, V Petricevic-Migic, R Hartl-Prpic, V |
| description | 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. |
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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.</description><identifier>ISSN: 0022-3050</identifier><identifier>PMID: 4125962</identifier><language>eng</language><publisher>England</publisher><subject>Action Potentials ; Adult ; Electric Stimulation ; Electromyography ; Female ; Fibula - injuries ; Fractures, Spontaneous - etiology ; Humans ; Male ; Muscular Atrophy - etiology ; Nerve Degeneration ; Neural Conduction ; Pain Insensitivity, Congenital - etiology ; Peripheral Nervous System Diseases - complications ; Peripheral Nervous System Diseases - genetics ; Peripheral Nervous System Diseases - pathology ; Schwann Cells ; Skin Ulcer - etiology ; Tibia - injuries ; Tibial Nerve - pathology</subject><ispartof>Journal of neurology, neurosurgery and psychiatry, 1973-08, Vol.36 (4), p.585-591</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/4125962$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Jusic, A</creatorcontrib><creatorcontrib>Radosevic, Z</creatorcontrib><creatorcontrib>Grcevic, N</creatorcontrib><creatorcontrib>Hlavka, V</creatorcontrib><creatorcontrib>Petricevic-Migic, R</creatorcontrib><creatorcontrib>Hartl-Prpic, V</creatorcontrib><title>"L'acropathie ulcéro-mutilante familiale" with involvement of the distal mixed nereves and long bones fractures</title><title>Journal of neurology, neurosurgery and psychiatry</title><addtitle>J Neurol Neurosurg Psychiatry</addtitle><description>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.</description><subject>Action Potentials</subject><subject>Adult</subject><subject>Electric Stimulation</subject><subject>Electromyography</subject><subject>Female</subject><subject>Fibula - injuries</subject><subject>Fractures, Spontaneous - etiology</subject><subject>Humans</subject><subject>Male</subject><subject>Muscular Atrophy - etiology</subject><subject>Nerve Degeneration</subject><subject>Neural Conduction</subject><subject>Pain Insensitivity, Congenital - etiology</subject><subject>Peripheral Nervous System Diseases - complications</subject><subject>Peripheral Nervous System Diseases - genetics</subject><subject>Peripheral Nervous System Diseases - pathology</subject><subject>Schwann Cells</subject><subject>Skin Ulcer - etiology</subject><subject>Tibia - injuries</subject><subject>Tibial Nerve - pathology</subject><issn>0022-3050</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1973</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNotUMFKxDAUzEFZ19VPEMIe9FRo06RpjrKoKyx42Xt5bV7dSJrUJF31k_wOf8yKO5eZgWFg5ows85yxrMxFfkEuY3zL_1CrBVnwgglVsSUZ17s76IIfIR0M0sl2P9_BZ8OUjAWXkPYwGGvA4pp-mHSgxh29PeKALlHf03RAqk1MYOlgPlFThwGPGCk4Ta13r7T1brZ9gC5NAeMVOe_BRrw-8YrsHx_2m222e3l63tzvslGULJMVgtBQQiHbqqgYtMAVbyvG-h5KIWvFUbVMC6hg1rxWksuCQd_VlZZClyty-187Bv8-YUzNYGKHdh6FfoqNVIIXRcHn4M0pOLUD6mYMZoDw1ZweKn8BA1NjJQ</recordid><startdate>197308</startdate><enddate>197308</enddate><creator>Jusic, A</creator><creator>Radosevic, Z</creator><creator>Grcevic, N</creator><creator>Hlavka, V</creator><creator>Petricevic-Migic, R</creator><creator>Hartl-Prpic, V</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>197308</creationdate><title>"L'acropathie ulcéro-mutilante familiale" with involvement of the distal mixed nereves and long bones fractures</title><author>Jusic, A ; Radosevic, Z ; Grcevic, N ; Hlavka, V ; Petricevic-Migic, R ; Hartl-Prpic, V</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p532-76ea5da3a17b6162aba494b622ffa357894e9b2d5a6a89448974712afc86d75d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1973</creationdate><topic>Action Potentials</topic><topic>Adult</topic><topic>Electric Stimulation</topic><topic>Electromyography</topic><topic>Female</topic><topic>Fibula - injuries</topic><topic>Fractures, Spontaneous - etiology</topic><topic>Humans</topic><topic>Male</topic><topic>Muscular Atrophy - etiology</topic><topic>Nerve Degeneration</topic><topic>Neural Conduction</topic><topic>Pain Insensitivity, Congenital - etiology</topic><topic>Peripheral Nervous System Diseases - complications</topic><topic>Peripheral Nervous System Diseases - genetics</topic><topic>Peripheral Nervous System Diseases - pathology</topic><topic>Schwann Cells</topic><topic>Skin Ulcer - etiology</topic><topic>Tibia - injuries</topic><topic>Tibial Nerve - pathology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Jusic, A</creatorcontrib><creatorcontrib>Radosevic, Z</creatorcontrib><creatorcontrib>Grcevic, N</creatorcontrib><creatorcontrib>Hlavka, V</creatorcontrib><creatorcontrib>Petricevic-Migic, R</creatorcontrib><creatorcontrib>Hartl-Prpic, V</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of neurology, neurosurgery and psychiatry</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Jusic, A</au><au>Radosevic, Z</au><au>Grcevic, N</au><au>Hlavka, V</au><au>Petricevic-Migic, R</au><au>Hartl-Prpic, V</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>"L'acropathie ulcéro-mutilante familiale" with involvement of the distal mixed nereves and long bones fractures</atitle><jtitle>Journal of neurology, neurosurgery and psychiatry</jtitle><addtitle>J Neurol Neurosurg Psychiatry</addtitle><date>1973-08</date><risdate>1973</risdate><volume>36</volume><issue>4</issue><spage>585</spage><epage>591</epage><pages>585-591</pages><issn>0022-3050</issn><abstract>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.</abstract><cop>England</cop><pmid>4125962</pmid><tpages>7</tpages></addata></record> |
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| identifier | ISSN: 0022-3050 |
| ispartof | Journal of neurology, neurosurgery and psychiatry, 1973-08, Vol.36 (4), p.585-591 |
| issn | 0022-3050 |
| language | eng |
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| source | MEDLINE; EZB-FREE-00999 freely available EZB journals; PubMed Central; Alma/SFX Local Collection |
| subjects | Action Potentials Adult Electric Stimulation Electromyography Female Fibula - injuries Fractures, Spontaneous - etiology Humans Male Muscular Atrophy - etiology Nerve Degeneration Neural Conduction Pain Insensitivity, Congenital - etiology Peripheral Nervous System Diseases - complications Peripheral Nervous System Diseases - genetics Peripheral Nervous System Diseases - pathology Schwann Cells Skin Ulcer - etiology Tibia - injuries Tibial Nerve - pathology |
| title | "L'acropathie ulcéro-mutilante familiale" with involvement of the distal mixed nereves and long bones fractures |
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