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<!--
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UID=343770
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ConceptID=C1852289
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Autoamputation of digits</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343770</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1852289</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>HPO:</td>
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0007460">HP:0007460</a></td></tr>
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<div class="portlet_content ln">The spontaneous detachment of a digit (finger or toe) from the body due to long standing pathology. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Autoamputation of digits</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/536898" ref="tree=MeSH" title="MedGen record for Abnormality of limbs">Abnormality of limbs</a></span><ul><li><span class="TLline"><a href="/medgen/866555" ref="tree=MeSH" title="MedGen record for Abnormality of the upper limb">Abnormality of the upper limb</a></span><ul><li><span class="TLline"><a href="/medgen/6715" ref="tree=MeSH" title="MedGen record for Abnormality of the hand">Abnormality of the hand</a></span><ul><li><span class="TLline"><a href="/medgen/870655" ref="tree=MeSH" title="MedGen record for Abnormal hand morphology">Abnormal hand morphology</a></span><ul><li><span class="matched_ds">Autoamputation of digits</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet mgSection" id="ID_112">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_6915"><div><strong>Hereditary insensitivity to pain with anhidrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6915</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0020074</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">NTRK1 congenital insensitivity to pain with anhidrosis (NTRK1-CIPA) is characterized by insensitivity to pain, anhidrosis (the inability to sweat), and intellectual disability. The ability to sense all pain (including visceral pain) is absent, resulting in repeated injuries including: oral self-mutilation (biting of tongue, lips, and buccal mucosa); biting of fingertips; bruising, scarring, and infection of the skin; multiple bone fractures (many of which fail to heal properly); and recurrent joint dislocations resulting in joint deformity. Sense of touch, vibration, and position are normal. Anhidrosis predisposes to recurrent febrile episodes that are often the initial manifestation of NTRK1-CIPA. Hypothermia in cold environments also occurs. Intellectual disability of varying degree is observed in most affected individuals; hyperactivity and emotional lability are common.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6915">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_9822"><div><strong>Chilblain lupus 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9822</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0024145</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Chilblain lupus is a cutaneous form of systemic lupus erythematosus (SLE; 152700) characterized by the appearance of painful bluish-red papular or nodular lesions of the skin in acral locations (including the dorsal aspects of fingers and toes, heels, nose, cheeks, ears, and, in some cases, knees) precipitated by cold and wet exposure (summary by Lee-Kirsch et al., 2006). Genetic Heterogeneity of Chilblain Lupus See also CHBL2 (614415), caused by mutation in the SAMHD1 gene (606754) on chromosome 20q11. Mutations in the TREX1 and SAMHD1 genes also cause Aicardi-Goutieres syndrome (AGS1, 225750 and AGS5, 612952, respectively).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9822">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_78579"><div><strong>Mutilating keratoderma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78579</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0265964</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Classic Vohwinkel syndrome is characterized by papular and honeycomb keratoderma associated with constrictions of digits leading to autoamputation, distinctive starfish-like acral keratoses, and moderate degrees of sensorineural deafness (summary by Maestrini et al., 1999) A variant form of Vohwinkel syndrome, mutilating keratoderma with ichthyosis (604117), is caused by mutation in the gene for loricrin (LOR; 152445) on chromosome 1q21. A form of mutilating palmoplantar keratoderma with periorificial keratotic plaques (Olmsted syndrome; 614594) is caused by mutation in the TRPV3 gene (607066) on chromosome 17p13.2.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78579">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338045"><div><strong>Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338045</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1850406</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MPV17-related mitochondrial DNA (mtDNA) maintenance defect presents in the vast majority of affected individuals as an early-onset encephalohepatopathic (hepatocerebral) disease that is typically associated with mtDNA depletion, particularly in the liver. A later-onset neuromyopathic disease characterized by myopathy and neuropathy, and associated with multiple mtDNA deletions in muscle, has also rarely been described. MPV17-related mtDNA maintenance defect, encephalohepatopathic form is characterized by: Hepatic manifestations (liver dysfunction that typically progresses to liver failure, cholestasis, hepatomegaly, and steatosis); Neurologic involvement (developmental delay, hypotonia, microcephaly, and motor and sensory peripheral neuropathy); Gastrointestinal manifestations (gastrointestinal dysmotility, feeding difficulties, and failure to thrive); and Metabolic derangements (lactic acidosis and hypoglycemia). Less frequent manifestations include renal tubulopathy, nephrocalcinosis, and hypoparathyroidism. Progressive liver disease often leads to death in infancy or early childhood. Hepatocellular carcinoma has been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338045">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_413474"><div><strong>Neuropathy, hereditary sensory and autonomic, type 2B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>413474</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2751092</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hereditary sensory and autonomic neuropathy type II (HSAN2) is characterized by progressively reduced sensation to pain, temperature, and touch. Onset can be at birth and is often before puberty. The sensory deficit is predominantly distal with the lower limbs more severely affected than the upper limbs. Over time sensory function becomes severely reduced. Unnoticed injuries and neuropathic skin promote ulcerations and infections that result in spontaneous amputation of digits or the need for surgical amputation. Osteomyelitis is common. Painless fractures can complicate the disease. Autonomic disturbances are variable and can include hyperhidrosis, tonic pupils, and urinary incontinence in those with more advanced disease.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/413474">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_416701"><div><strong>Neuropathy, hereditary sensory and autonomic, type 2A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>416701</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2752089</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hereditary sensory and autonomic neuropathy type II (HSAN2) is characterized by progressively reduced sensation to pain, temperature, and touch. Onset can be at birth and is often before puberty. The sensory deficit is predominantly distal with the lower limbs more severely affected than the upper limbs. Over time sensory function becomes severely reduced. Unnoticed injuries and neuropathic skin promote ulcerations and infections that result in spontaneous amputation of digits or the need for surgical amputation. Osteomyelitis is common. Painless fractures can complicate the disease. Autonomic disturbances are variable and can include hyperhidrosis, tonic pupils, and urinary incontinence in those with more advanced disease.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/416701">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462246"><div><strong>Neuropathy, hereditary sensory and autonomic, type 1C</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462246</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3150896</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hereditary sensory and autonomic neuropathy type IC (HSAN1C) is an autosomal dominant neurologic disorder characterized by sensory neuropathy with variable autonomic and motor involvement. Most patients have adult onset of slowly progressive distal sensory impairment manifest as numbness, tingling, or pain, as well as distal muscle atrophy. Complications include ulceration and osteomyelitis. Some patients may have a more severe phenotype with onset in childhood. Electrophysiologic studies show a predominantly axonal neuropathy with some demyelinating features. Some patients may have evidence of central nervous system involvement, including macular telangiectasia type 2 and/or pyramidal signs. Affected individuals have increased levels of plasma 1-deoxysphingolipids (1-deoxySLs), which are thought to be neurotoxic. (summary by Rotthier et al., 2010, Gantner et al., 2019, and Triplett et al., 2019). Oral supplementation with serine decreases 1-deoxySL and may offer some clinical benefits (Fridman et al., 2019). For a discussion of genetic heterogeneity of HSAN, see HSAN1A (162400).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462246">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462322"><div><strong>Neuropathy, hereditary sensory, type 1D</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462322</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3150972</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spastic paraplegia 3A (SPG3A; also known as ATL1-HSP) is characterized by progressive bilateral and mostly symmetric spasticity and weakness of the legs. Compared to other forms of autosomal dominant hereditary spastic paraplegia (HSP), in which diminished vibration sense (caused by degeneration of the corticospinal tracts and dorsal columns) and urinary bladder hyperactivity are present in all affected individuals, these findings occur in a minority of individuals with SPG3A. The average age of onset is four years. More than 80% of reported individuals manifest spastic gait before the end of the first decade of life. Most persons with early-onset ATL1-HSP have a "pure" ("uncomplicated") HSP; however, complicated HSP with axonal motor neuropathy and/or distal amyotrophy with lower motor neuron involvement (Silver syndrome phenotype) has been observed. The rate of progression in ATL1-HSP is slow, and wheelchair dependency or need for a walking aid (cane, walker, or wheelchair) is relatively rare.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462322">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_481798"><div><strong>Neuropathy, hereditary sensory, type 2C</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481798</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3280168</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hereditary sensory and autonomic neuropathy type II (HSAN2) is characterized by progressively reduced sensation to pain, temperature, and touch. Onset can be at birth and is often before puberty. The sensory deficit is predominantly distal with the lower limbs more severely affected than the upper limbs. Over time sensory function becomes severely reduced. Unnoticed injuries and neuropathic skin promote ulcerations and infections that result in spontaneous amputation of digits or the need for surgical amputation. Osteomyelitis is common. Painless fractures can complicate the disease. Autonomic disturbances are variable and can include hyperhidrosis, tonic pupils, and urinary incontinence in those with more advanced disease.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/481798">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1778121"><div><strong>Olmsted syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1778121</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5542829</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Olmsted syndrome-1 (OLMS1) is a rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma (PPK) and periorificial keratotic plaques with severe pruritus of lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas (summary by Lin et al., 2012). The digital constriction ('pseudoainhum') may progress to autoamputation of fingers and toes (Olmsted, 1927). Genetic Heterogeneity of Olmsted Syndrome Olmsted syndrome-2 (OLMS2; 619208) is caused by mutation in the PERP gene (609301) on chromosome 6q23. An X-linked form of Olmsted syndrome (OLMSX; 300918) is caused by mutation in the MBTPS2 gene (300294) on chromosome Xp22.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1778121">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1823973"><div><strong>Keratoderma-ichthyosis-deafness syndrome, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823973</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5774200</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive keratoderma-ichthyosis-deafness syndrome (KDIDAR) is characterized by severe palmoplantar keratoderma, mild generalized ichthyosis, and progressive sensorineural deafness. Other variable features include contractures, mild bleeding diathesis, and psychomotor retardation (Gruber et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1823973">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_9822" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chilblain lupus 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_6915" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary insensitivity to pain with anhidrosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1823973" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Keratoderma-ichthyosis-deafness syndrome, autosomal recessive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338045" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78579" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mutilating keratoderma</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (11)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462246" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuropathy, hereditary sensory and autonomic, type 1C</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_416701" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuropathy, hereditary sensory and autonomic, type 2A</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_413474" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuropathy, hereditary sensory and autonomic, type 2B</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462322" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuropathy, hereditary sensory, type 1D</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481798" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuropathy, hereditary sensory, type 2C</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1778121" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Olmsted syndrome 1</a></div></span></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33081629">Endovascular management of critical hand ischemia by 'palmar arch loop' technique.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singh A,
|
||
Kumar N,
|
||
Jain AP,
|
||
Verma R,
|
||
Krishna V</span><br />
|
||
<span class="medgenPMjournal">Vascular</span>
|
||
2021 Aug;29(4):597-605.
|
||
Epub 2020 Oct 21
|
||
doi: 10.1177/1708538120966939.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33081629" target="_blank">33081629</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25419326">Tropical diabetes hand syndrome with autoamputation of the digits: case report and review of literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raimi TH,
|
||
Alese OO</span><br />
|
||
<span class="medgenPMjournal">Pan Afr Med J</span>
|
||
2014;18:199.
|
||
Epub 2014 Jul 5
|
||
doi: 10.11604/pamj.2014.18.199.3593.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25419326" target="_blank">25419326</a><a href="/pmc/articles/PMC4237572" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15801019">Surgery of the hand in patients with systemic sclerosis: outcomes and considerations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bogoch ER,
|
||
Gross DK</span><br />
|
||
<span class="medgenPMjournal">J Rheumatol</span>
|
||
2005 Apr;32(4):642-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15801019" target="_blank">15801019</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14551712">Treatment of the toe tourniquet syndrome in infants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Serour F,
|
||
Gorenstein A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Surg Int</span>
|
||
2003 Oct;19(8):598-600.
|
||
Epub 2003 Oct 10
|
||
doi: 10.1007/s00383-003-1034-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14551712" target="_blank">14551712</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10992205">Fetal polydactyly diagnosis during early pregnancy: clinical applications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zimmer EZ,
|
||
Bronshtein M</span><br />
|
||
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
|
||
2000 Sep;183(3):755-8.
|
||
doi: 10.1067/mob.2000.106974.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10992205" target="_blank">10992205</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autoamputation%20of%20digits%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (7)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/25886873">Olmsted syndrome: clinical, molecular and therapeutic aspects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Duchatelet S,
|
||
Hovnanian A</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2015 Mar 17;10:33.
|
||
doi: 10.1186/s13023-015-0246-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25886873" target="_blank">25886873</a><a href="/pmc/articles/PMC4373112" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24849649">Autoamputation of the fifth digit: ainhum (dactylolysis spontanea).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shtofmakher G,
|
||
Kaufman MA,
|
||
Cohen R,
|
||
Glockenberg A</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2014 May 20;2014
|
||
doi: 10.1136/bcr-2014-205021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24849649" target="_blank">24849649</a><a href="/pmc/articles/PMC4039760" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23217486">Pseudoainhum in acute psoriasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Anwar MI,
|
||
Iftikhar N,
|
||
Hasnain SH,
|
||
Ishaq BM</span><br />
|
||
<span class="medgenPMjournal">J Coll Physicians Surg Pak</span>
|
||
2012 Dec;22(12):786-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23217486" target="_blank">23217486</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17567298">Destructive deformation of the digits with auto-amputation: a review of pseudo-ainhum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rashid RM,
|
||
Cowan E,
|
||
Abbasi SA,
|
||
Brieva J,
|
||
Alam M</span><br />
|
||
<span class="medgenPMjournal">J Eur Acad Dermatol Venereol</span>
|
||
2007 Jul;21(6):732-7.
|
||
doi: 10.1111/j.1468-3083.2007.02224.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17567298" target="_blank">17567298</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10992205">Fetal polydactyly diagnosis during early pregnancy: clinical applications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zimmer EZ,
|
||
Bronshtein M</span><br />
|
||
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
|
||
2000 Sep;183(3):755-8.
|
||
doi: 10.1067/mob.2000.106974.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10992205" target="_blank">10992205</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autoamputation%20of%20digits%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (9)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35135008">Sympathetic Blocks for Raynaud's Phenomena in Pediatric Rheumatological Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Punj J,
|
||
Garg H,
|
||
Gomez G,
|
||
Bagri NK,
|
||
Thakur JP,
|
||
Singh LD,
|
||
Jain D,
|
||
Darlong V,
|
||
Pandey R</span><br />
|
||
<span class="medgenPMjournal">Pain Med</span>
|
||
2022 Jul 1;23(7):1211-1216.
|
||
doi: 10.1093/pm/pnac015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35135008" target="_blank">35135008</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33081629">Endovascular management of critical hand ischemia by 'palmar arch loop' technique.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singh A,
|
||
Kumar N,
|
||
Jain AP,
|
||
Verma R,
|
||
Krishna V</span><br />
|
||
<span class="medgenPMjournal">Vascular</span>
|
||
2021 Aug;29(4):597-605.
|
||
Epub 2020 Oct 21
|
||
doi: 10.1177/1708538120966939.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33081629" target="_blank">33081629</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25419326">Tropical diabetes hand syndrome with autoamputation of the digits: case report and review of literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raimi TH,
|
||
Alese OO</span><br />
|
||
<span class="medgenPMjournal">Pan Afr Med J</span>
|
||
2014;18:199.
|
||
Epub 2014 Jul 5
|
||
doi: 10.11604/pamj.2014.18.199.3593.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25419326" target="_blank">25419326</a><a href="/pmc/articles/PMC4237572" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24849649">Autoamputation of the fifth digit: ainhum (dactylolysis spontanea).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shtofmakher G,
|
||
Kaufman MA,
|
||
Cohen R,
|
||
Glockenberg A</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2014 May 20;2014
|
||
doi: 10.1136/bcr-2014-205021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24849649" target="_blank">24849649</a><a href="/pmc/articles/PMC4039760" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14551712">Treatment of the toe tourniquet syndrome in infants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Serour F,
|
||
Gorenstein A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Surg Int</span>
|
||
2003 Oct;19(8):598-600.
|
||
Epub 2003 Oct 10
|
||
doi: 10.1007/s00383-003-1034-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14551712" target="_blank">14551712</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autoamputation%20of%20digits%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (8)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/18849842">Treatment of frostbite with subatmospheric pressure therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Poulakidas S,
|
||
Cologne K,
|
||
Kowal-Vern A</span><br />
|
||
<span class="medgenPMjournal">J Burn Care Res</span>
|
||
2008 Nov-Dec;29(6):1012-4.
|
||
doi: 10.1097/BCR.0b013e31818ba0ad.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18849842" target="_blank">18849842</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10992205">Fetal polydactyly diagnosis during early pregnancy: clinical applications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zimmer EZ,
|
||
Bronshtein M</span><br />
|
||
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
|
||
2000 Sep;183(3):755-8.
|
||
doi: 10.1067/mob.2000.106974.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10992205" target="_blank">10992205</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3314508">Neuroaxonal dystrophy presenting with neonatal dysmorphic features, early onset of peripheral gangrene, and a rapidly lethal course.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hunter AG,
|
||
Jimenez CL,
|
||
Carpenter BF,
|
||
MacDonald I</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1987 Sep;28(1):171-80.
|
||
doi: 10.1002/ajmg.1320280124.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3314508" target="_blank">3314508</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autoamputation%20of%20digits%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35726155">Spontaneous xenogeneic GvHD in Wilms' tumor Patient-Derived xenograft models and potential solutions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Monzavi SM,
|
||
Muhammadnejad A,
|
||
Behfar M,
|
||
Khorsand AA,
|
||
Muhammadnejad S,
|
||
Kajbafzadeh AM</span><br />
|
||
<span class="medgenPMjournal">Animal Model Exp Med</span>
|
||
2022 Dec;5(4):389-396.
|
||
Epub 2022 Jun 20
|
||
doi: 10.1002/ame2.12254.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35726155" target="_blank">35726155</a><a href="/pmc/articles/PMC9434572" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/25886873">Olmsted syndrome: clinical, molecular and therapeutic aspects.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Duchatelet S,
|
||
Hovnanian A</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2015 Mar 17;10:33.
|
||
doi: 10.1186/s13023-015-0246-5.
|
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<span class="bold">PMID: </span><a href="/pubmed/25886873" target="_blank">25886873</a><a href="/pmc/articles/PMC4373112" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/18849842">Treatment of frostbite with subatmospheric pressure therapy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Poulakidas S,
|
||
Cologne K,
|
||
Kowal-Vern A</span><br />
|
||
<span class="medgenPMjournal">J Burn Care Res</span>
|
||
2008 Nov-Dec;29(6):1012-4.
|
||
doi: 10.1097/BCR.0b013e31818ba0ad.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18849842" target="_blank">18849842</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10992205">Fetal polydactyly diagnosis during early pregnancy: clinical applications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zimmer EZ,
|
||
Bronshtein M</span><br />
|
||
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
|
||
2000 Sep;183(3):755-8.
|
||
doi: 10.1067/mob.2000.106974.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10992205" target="_blank">10992205</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autoamputation%20of%20digits%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4)</a></div></div>
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<span class="medgenPMjournal">J Rheumatol</span>
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2005 Apr;32(4):642-8.
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<span class="bold">PMID: </span><a href="/pubmed/15801019" target="_blank">15801019</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autoamputation%20of%20digits%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
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