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<meta name="keywords" content="C0003028, absence of sweating, adiaphoresis, anhidrosis, anhydrosis, disease or syndrome, lack of sweating, sudomotor dysfunction, sweating dysfunction, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Inability to sweat." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=1550
|
||
ConceptID=C0003028
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Anhidrosis</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1550</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.">C0003028</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Absence of sweating; absence of sweating; Adiaphoresis; adiaphoresis; anhidrosis; Anhydrosis; Lack of sweating; Sudomotor dysfunction; Sweating dysfunction</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Absence of sweating (14662005); Anhidrosis (39659002)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related gene:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/3709">ITPR2</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0000970">HP:0000970</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0006527" target="_blank">MONDO:0006527</a></td></tr>
|
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</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Inability to sweat. [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>
|
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<div class="portlet mgSection" id="ID_118">
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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">Anhidrosis</span><ul><li class="TLclosed"><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 Ocolor" title="OMIM"><a ref="ncbi_uid=895862" target="_blank" href="/omim/206600">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/895862" ref="tree=GTR&ncbi_uid=895862&link_uid=895862" title="View MedGen record for 'Anhidrosis, familial generalized, with abnormal or absent sweat glands'">Anhidrosis, familial generalized, with abnormal or absent sweat glands</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5568836[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=1800259">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1800259" target="_blank" href="/omim/106190">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1800259" ref="ncbi_uid=1800259">V</a></span></span><span class="TLline"><a href="/medgen/1800259" ref="tree=GTR&ncbi_uid=1800259&link_uid=1800259" title="View MedGen record for 'Isolated anhidrosis with normal sweat glands'">Isolated anhidrosis with normal sweat glands</a></span></li></ul></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/871273" ref="tree=MeSH" title="MedGen record for Abnormality of the integument">Abnormality of the integument</a></span><ul><li><span class="TLline"><a href="/medgen/1369574" ref="tree=MeSH" title="MedGen record for Abnormality of skin adnexa physiology">Abnormality of skin adnexa physiology</a></span><ul><li><span class="matched_ds">Anhidrosis</span><ul><li><span class="TLline"><a href="/medgen/895862" ref="tree=MeSH" title="MedGen record for Anhidrosis, familial generalized, with abnormal or absent sweat glands">Anhidrosis, familial generalized, with abnormal or absent sweat glands</a></span></li><li><span class="TLline"><a href="/medgen/1800259" ref="tree=MeSH" title="MedGen record for Isolated anhidrosis with normal sweat glands">Isolated anhidrosis with normal sweat glands</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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||
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||
<div class="portlet mgSection" id="ID_112">
|
||
<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_5288"><div><strong>Fucosidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5288</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.">C0016788</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues. Clinical features include angiokeratoma, progressive psychomotor retardation, neurologic signs, coarse facial features, and dysostosis multiplex. Fucosidosis has been classified into 2 major types. Type 1 is characterized by rapid psychomotor regression and severe neurologic deterioration beginning at about 6 months of age, elevated sweat sodium chloride, and death within the first decade of life. Type 2 is characterized by milder psychomotor retardation and neurologic signs, the development of angiokeratoma corporis diffusum, normal sweat salinity, and longer survival (Kousseff et al., 1976).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5288">Condition Record</a></div></div>
|
||
<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."><span class="highlight" style="background-color:">C0020074</span></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_6916"><div><strong>Congenital sensory neuropathy with selective loss of small myelinated fibers</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6916</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.">C0020075</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 V (HSAN5) is a condition that primarily affects the sensory nerve cells (sensory neurons), which transmit information about sensations such as pain, temperature, and touch. These sensations are impaired in people with HSAN5.\n\nThe signs and symptoms of HSAN5 appear early, usually at birth or during infancy. People with HSAN5 lose the ability to feel pain, heat, and cold. Deep pain perception, the feeling of pain from injuries to bones, ligaments, or muscles, is especially affected in people with HSAN5. Because of the inability to feel deep pain, affected individuals suffer repeated severe injuries such as bone fractures and joint injuries that go unnoticed. Repeated trauma can lead to a condition called Charcot joints, in which the bones and tissue surrounding joints are destroyed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6916">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_57890"><div><strong>Hypohidrotic X-linked ectodermal dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57890</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.">C0162359</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypohidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). The cardinal features of classic HED become obvious during childhood. The scalp hair is thin, lightly pigmented, and slow growing. Sweating, although present, is greatly deficient, leading to episodes of hyperthermia until the affected individual or family acquires experience with environmental modifications to control temperature. Only a few abnormally formed teeth erupt, at a later-than-average age. Physical growth and psychomotor development are otherwise within normal limits. Mild HED is characterized by mild manifestations of any or all the characteristic features.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57890">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120540"><div><strong>Pallister-Killian syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120540</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.">C0265449</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pallister-Killian syndrome (PKS) is a dysmorphic condition involving most organ systems, but is also characterized by a tissue-limited mosaicism; most fibroblasts have 47 chromosomes with an extra small metacentric chromosome, whereas the karyotype of lymphocytes is normal. The extra metacentric chromosome is an isochromosome for part of the short arm of chromosome 12: i(12)(p10) (Peltomaki et al., 1987; Warburton et al., 1987).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120540">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_82728"><div><strong>Pili torti-deafness syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82728</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.">C0266006</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bjornstad syndrome (BJS) is an autosomal recessive disorder characterized by sensorineural hearing loss and pili torti. The hearing loss is congenital and of variable severity. Pili torti (twisted hairs), a condition in which the hair shafts are flattened at irregular intervals and twisted 180 degrees from the normal axis, making the hair very brittle, is usually recognized early in childhood (Selvaag, 2000).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82728">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_98032"><div><strong>Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98032</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.">C0406709</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98032">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_155487"><div><strong>Cockayne syndrome type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155487</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.">C0751038</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cockayne syndrome (referred to as CS in this GeneReview) spans a continuous phenotypic spectrum that includes CS type I, the "classic" or "moderate" form; CS type II, a more severe form with symptoms present at birth (this form overlaps with cerebrooculofacioskeletal [COFS] syndrome); CS type III, a milder and later-onset form; and COFS syndrome, a fetal form of CS. CS type I is characterized by normal prenatal growth with the onset of growth and developmental abnormalities in the first two years. By the time the disease has become fully manifest, height, weight, and head circumference are far below the fifth percentile. Progressive impairment of vision, hearing, and central and peripheral nervous system function leads to severe disability; death typically occurs in the first or second decade. CS type II is characterized by growth failure at birth, with little or no postnatal neurologic development. Congenital cataracts or other structural anomalies of the eye may be present. Affected children have early postnatal contractures of the spine (kyphosis, scoliosis) and joints. Death usually occurs by age five years. CS type III is a phenotype in which major clinical features associated with CS only become apparent after age two years; growth and/or cognition exceeds the expectations for CS type I. COFS syndrome is characterized by very severe prenatal developmental anomalies (arthrogryposis and microphthalmia).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/155487">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_155488"><div><strong>Cockayne syndrome type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155488</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.">C0751039</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cockayne syndrome (referred to as CS in this GeneReview) spans a continuous phenotypic spectrum that includes CS type I, the "classic" or "moderate" form; CS type II, a more severe form with symptoms present at birth (this form overlaps with cerebrooculofacioskeletal [COFS] syndrome); CS type III, a milder and later-onset form; and COFS syndrome, a fetal form of CS. CS type I is characterized by normal prenatal growth with the onset of growth and developmental abnormalities in the first two years. By the time the disease has become fully manifest, height, weight, and head circumference are far below the fifth percentile. Progressive impairment of vision, hearing, and central and peripheral nervous system function leads to severe disability; death typically occurs in the first or second decade. CS type II is characterized by growth failure at birth, with little or no postnatal neurologic development. Congenital cataracts or other structural anomalies of the eye may be present. Affected children have early postnatal contractures of the spine (kyphosis, scoliosis) and joints. Death usually occurs by age five years. CS type III is a phenotype in which major clinical features associated with CS only become apparent after age two years; growth and/or cognition exceeds the expectations for CS type I. COFS syndrome is characterized by very severe prenatal developmental anomalies (arthrogryposis and microphthalmia).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/155488">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_162920"><div><strong>Van den Bosch syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162920</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.">C0796192</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Syndrome that is characterised by intellectual deficit, choroideraemia, acrokeratosis verruciformis, anhidrosis, and skeletal deformities. It has been observed in a single kindred. The syndrome is transmitted as an X-linked recessive trait and may be caused by a small X-chromosome deletion.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/162920">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_344563"><div><strong>Channelopathy-associated congenital insensitivity to pain, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344563</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.">C1855739</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/344563">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_388032"><div><strong>Epidermolysis bullosa simplex due to plakophilin deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>388032</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.">C1858302</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ectodermal dysplasia/skin fragility syndrome (EDSFS) is an autosomal recessive genodermatosis characterized by widespread skin fragility, alopecia, nail dystrophy, and focal keratoderma with painful fissures. Hypohidrosis and cheilitis are sometimes present (summary by Ersoy-Evans et al., 2006).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/388032">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_410035"><div><strong>Tooth agenesis, selective, 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>410035</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.">C1970291</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any tooth agenesis in which the cause of the disease is a mutation in the PAX9 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/410035">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_394295"><div><strong>Ectodermal dysplasia and immunodeficiency 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>394295</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.">C2677481</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">EDAID2 is characterized by variable features of ectodermal dysplasia (e.g., hypo/anhidrosis, sparse hair, tooth anomalies) and various immunologic and infectious phenotypes of differing severity (summary by Boisson et al., 2017). Some patients may also have neutrophilia and autoinflammatory disease, such as liver disease (Tan et al., 2020). Mutations in the NFKBIA gene result in functional impairment of NFKB (see 164011), a master transcription factor required for normal activation of immune responses. Interruption of NFKB signaling results in decreased production of proinflammatory cytokines and certain interferons, rendering patients susceptible to infection (McDonald et al., 2007). For discussion of genetic heterogeneity of ectodermal dysplasia and immune deficiency, see 300291.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/394295">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_761665"><div><strong>Autosomal recessive congenital ichthyosis 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>761665</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.">C3539888</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; 242500) (Oji et al., 2010). NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006). In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005). For a discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (242300).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/761665">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_761671"><div><strong>Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>761671</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.">C3539920</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypohidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). The cardinal features of classic HED become obvious during childhood. The scalp hair is thin, lightly pigmented, and slow growing. Sweating, although present, is greatly deficient, leading to episodes of hyperthermia until the affected individual or family acquires experience with environmental modifications to control temperature. Only a few abnormally formed teeth erupt, at a later-than-average age. Physical growth and psychomotor development are otherwise within normal limits. Mild HED is characterized by mild manifestations of any or all the characteristic features.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/761671">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_762105"><div><strong>Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>762105</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.">C3541517</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/762105">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_811503"><div><strong>Multiple system atrophy 1, susceptibility to</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811503</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.">C3714927</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Multiple system atrophy (MSA) is a distinct clinicopathologic entity that manifests as a progressive adult-onset neurodegenerative disorder causing parkinsonism, cerebellar ataxia, and autonomic, urogenital, and pyramidal dysfunction in various combinations. Two main subtypes are recognized: 'subtype C,' characterized predominantly by cerebellar ataxia, and 'subtype P,' characterized predominantly by parkinsonism. MSA is characterized pathologically by the degeneration of striatonigral and olivopontocerebellar structures and glial cytoplasmic inclusions (GCIs) that consist of abnormally phosphorylated alpha-synuclein (SNCA; 163890) or tau (MAPT; 157140) (Gilman et al., 1998; Gilman et al., 2008; Scholz et al., 2009). 'Subtype C' of MSA has been reported to be more prevalent than 'subtype P' in the Japanese population (65-67% vs 33-35%), whereas 'subtype P' has been reported to be more prevalent than 'subtype C' in Europe (63% vs 34%) and North America (60% vs 13%, with 27% of cases unclassified) (summary by The Multiple-System Atrophy Research Collaboration, 2013). MSA is similar clinically and pathologically to Parkinson disease (PD; 168600) and Lewy body dementia (127750). See also PARK1 (168601), which is specifically caused by mutation in the SNCA gene. Pure autonomic failure manifests as orthostatic hypotension and other autonomic abnormalities without other neurologic involvement. Although there is some phenotypic overlap, the relationship of pure autonomic failure to MSA is unclear (Vanderhaeghen et al., 1970; Schatz, 1996).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811503">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_854356"><div><strong>Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854356</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.">C3887494</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypohidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). The cardinal features of classic HED become obvious during childhood. The scalp hair is thin, lightly pigmented, and slow growing. Sweating, although present, is greatly deficient, leading to episodes of hyperthermia until the affected individual or family acquires experience with environmental modifications to control temperature. Only a few abnormally formed teeth erupt, at a later-than-average age. Physical growth and psychomotor development are otherwise within normal limits. Mild HED is characterized by mild manifestations of any or all the characteristic features.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854356">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_854762"><div><strong>Autosomal recessive congenital ichthyosis 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854762</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.">C3888093</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; 242500) (Oji et al., 2010). NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006). In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005). For a discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (242300).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854762">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1621482"><div><strong>HELIX syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1621482</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.">C4522164</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">HELIX syndrome is an autosomal recessive disorder characterized by Hypohidrosis, Electrolyte imbalance, Lacrimal gland dysfunction, Ichthyosis, and Xerostomia (summary by Hadj-Rabia et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1621482">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1614787"><div><strong>Intellectual disability, autosomal dominant 54</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1614787</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.">C4540484</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1614787">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1662266"><div><strong>Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1662266</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.">C4749914</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">ALPK1-related autoinflammatory disease (ALPK1-AD) is characterized by clinical findings that can include intraocular inflammation, retinal degeneration, recurrent fever, deforming arthritis, and headaches. Anhidrosis/hypohidrosis, dental caries, short dental roots, and hyposalivation are common. While most adults have ophthalmologic manifestations, vision loss is not universal. Although significant intrafamilial variability can occur, most individuals with ALPK1-AD exhibit at least one clinical or laboratory feature (such as episodic low-grade fever or episodic elevation of serum markers of inflammation such as C-reactive protein). To date, 41 individuals from 19 families with a pathogenic variant in ALPK1 have been described.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1662266">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1780408"><div><strong>Erythrokeratodermia variabilis et progressiva 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1780408</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.">C5543106</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Erythrokeratodermia variabilis et progressiva-7 (EKVP7) is characterized by palmoplantar keratoderma that extends to the dorsal surface of the hands and feet (transgrediens), as well as erythematous annular skin lesions. Pruritis, woolly hair, and dystrophic nails may also be present (Duchatelet et al., 2019; Patel et al., 2020). For a general phenotypic description and discussion of genetic heterogeneity of EKVP, see EKVP1 (133200).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1780408">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841075"><div><strong>Hatipoglu immunodeficiency syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841075</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.">C5830439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hatipoglu immunodeficiency syndrome (HATIS) is an autosomal recessive immunologic disorder characterized by childhood onset of failure to thrive, skin manifestations, pancytopenia, and susceptibility to recurrent infections (Harapas et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841075">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_989503"><div><strong>Congenital disorder of deglycosylation 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>989503</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN306977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Individuals with NGLY1-related congenital disorder of deglycosylation (NGLY1-CDDG) typically display a clinical tetrad of developmental delay / intellectual disability in the mild to profound range, hypo- or alacrima, elevated liver transaminases that may spontaneously resolve in childhood, and a complex hyperkinetic movement disorder that can include choreiform, athetoid, dystonic, myoclonic, action tremor, and dysmetric movements. About half of affected individuals will develop clinical seizures. Other findings may include obstructive and/or central sleep apnea, oral motor defects that affect feeding ability, auditory neuropathy, constipation, scoliosis, and peripheral neuropathy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/989503">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98032" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854762" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive congenital ichthyosis 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_761665" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive congenital ichthyosis 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344563" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Channelopathy-associated congenital insensitivity to pain, autosomal recessive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_155488" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cockayne syndrome type 1</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (28)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_155487" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cockayne syndrome type 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_989503" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital disorder of deglycosylation 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_6916" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital sensory neuropathy with selective loss of small myelinated fibers</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854356" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_762105" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_761671" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_394295" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ectodermal dysplasia and immunodeficiency 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_388032" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epidermolysis bullosa simplex due to plakophilin deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1780408" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Erythrokeratodermia variabilis et progressiva 7</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_5288" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fucosidosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841075" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hatipoglu immunodeficiency syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1621482" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">HELIX syndrome</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_57890" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypohidrotic X-linked ectodermal dysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1614787" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal dominant 54</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_811503" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple system atrophy 1, susceptibility to</a></div>
|
||
<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_120540" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pallister-Killian syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82728" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pili torti-deafness syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1662266" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_410035" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tooth agenesis, selective, 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162920" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Van den Bosch syndrome</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33419664">Electrodiagnostic assessment of the autonomic nervous system: A consensus statement endorsed by the American Autonomic Society, American Academy of Neurology, and the International Federation of Clinical Neurophysiology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cheshire WP,
|
||
Freeman R,
|
||
Gibbons CH,
|
||
Cortelli P,
|
||
Wenning GK,
|
||
Hilz MJ,
|
||
Spies JM,
|
||
Lipp A,
|
||
Sandroni P,
|
||
Wada N,
|
||
Mano A,
|
||
Ah Kim H,
|
||
Kimpinski K,
|
||
Iodice V,
|
||
Idiáquez J,
|
||
Thaisetthawatkul P,
|
||
Coon EA,
|
||
Low PA,
|
||
Singer W</span><br />
|
||
<span class="medgenPMjournal">Clin Neurophysiol</span>
|
||
2021 Feb;132(2):666-682.
|
||
Epub 2020 Dec 22
|
||
doi: 10.1016/j.clinph.2020.11.024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33419664" target="_blank">33419664</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27584965">Clinical Analysis and Management of Acquired Idiopathic Generalized Anhidrosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Satoh T</span><br />
|
||
<span class="medgenPMjournal">Curr Probl Dermatol</span>
|
||
2016;51:75-9.
|
||
Epub 2016 Aug 30
|
||
doi: 10.1159/000446781.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27584965" target="_blank">27584965</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18217788">Drug-induced hyperhidrosis and hypohidrosis: incidence, prevention and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cheshire WP,
|
||
Fealey RD</span><br />
|
||
<span class="medgenPMjournal">Drug Saf</span>
|
||
2008;31(2):109-26.
|
||
doi: 10.2165/00002018-200831020-00002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18217788" target="_blank">18217788</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22anhidrosis%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (20)</a></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/32906168">Sudomotor Dysfunction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cheshire WP</span><br />
|
||
<span class="medgenPMjournal">Semin Neurol</span>
|
||
2020 Oct;40(5):560-568.
|
||
Epub 2020 Sep 9
|
||
doi: 10.1055/s-0040-1713847.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32906168" target="_blank">32906168</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30459040">Thermoregulation in neuropathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fealey RD</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2018;157:777-787.
|
||
doi: 10.1016/B978-0-444-64074-1.00048-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30459040" target="_blank">30459040</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25439301">Congenital corneal anesthesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramappa M,
|
||
Chaurasia S,
|
||
Chakrabarti S,
|
||
Kaur I</span><br />
|
||
<span class="medgenPMjournal">J AAPOS</span>
|
||
2014 Oct;18(5):427-32.
|
||
Epub 2014 Oct 21
|
||
doi: 10.1016/j.jaapos.2014.05.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25439301" target="_blank">25439301</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18217788">Drug-induced hyperhidrosis and hypohidrosis: incidence, prevention and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cheshire WP,
|
||
Fealey RD</span><br />
|
||
<span class="medgenPMjournal">Drug Saf</span>
|
||
2008;31(2):109-26.
|
||
doi: 10.2165/00002018-200831020-00002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18217788" target="_blank">18217788</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18176742">Congenital ichthyosis: an overview of current and emerging therapies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vahlquist A,
|
||
Gånemo A,
|
||
Virtanen M</span><br />
|
||
<span class="medgenPMjournal">Acta Derm Venereol</span>
|
||
2008;88(1):4-14.
|
||
doi: 10.2340/00015555-0415.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18176742" target="_blank">18176742</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Anhidrosis%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 (161)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36107396">Cholinergic Urticaria: Subtype Classification and Clinical Approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fukunaga A,
|
||
Oda Y,
|
||
Imamura S,
|
||
Mizuno M,
|
||
Fukumoto T,
|
||
Washio K</span><br />
|
||
<span class="medgenPMjournal">Am J Clin Dermatol</span>
|
||
2023 Jan;24(1):41-54.
|
||
Epub 2022 Sep 15
|
||
doi: 10.1007/s40257-022-00728-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36107396" target="_blank">36107396</a><a href="/pmc/articles/PMC9476404" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35012815">Segmental anhidrosis and heat intolerance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lacombe V,
|
||
Le Clec'h C</span><br />
|
||
<span class="medgenPMjournal">Eur J Intern Med</span>
|
||
2022 Mar;97:95-96.
|
||
Epub 2022 Jan 7
|
||
doi: 10.1016/j.ejim.2022.01.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35012815" target="_blank">35012815</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32906168">Sudomotor Dysfunction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cheshire WP</span><br />
|
||
<span class="medgenPMjournal">Semin Neurol</span>
|
||
2020 Oct;40(5):560-568.
|
||
Epub 2020 Sep 9
|
||
doi: 10.1055/s-0040-1713847.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32906168" target="_blank">32906168</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14615640">Horner syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Walton KA,
|
||
Buono LM</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Ophthalmol</span>
|
||
2003 Dec;14(6):357-63.
|
||
doi: 10.1097/00055735-200312000-00007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14615640" target="_blank">14615640</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1324036">Fabry's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kato H,
|
||
Sato K,
|
||
Hattori S,
|
||
Ikemoto S,
|
||
Shimizu M,
|
||
Isogai Y</span><br />
|
||
<span class="medgenPMjournal">Intern Med</span>
|
||
1992 May;31(5):682-5.
|
||
doi: 10.2169/internalmedicine.31.682.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1324036" target="_blank">1324036</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Anhidrosis%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 (341)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/23545621">Generalized anhidrosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yilmazer S,
|
||
Okuyucu E,
|
||
Melek I,
|
||
Duman T</span><br />
|
||
<span class="medgenPMjournal">Neurosciences (Riyadh)</span>
|
||
2013 Apr;18(2):178-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23545621" target="_blank">23545621</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23448454">Cutaneous complications of Anderson-Fabry disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Giuseppe P,
|
||
Daniele R,
|
||
Rita BM</span><br />
|
||
<span class="medgenPMjournal">Curr Pharm Des</span>
|
||
2013;19(33):6031-6.
|
||
doi: 10.2174/13816128113199990359.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23448454" target="_blank">23448454</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18217788">Drug-induced hyperhidrosis and hypohidrosis: incidence, prevention and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cheshire WP,
|
||
Fealey RD</span><br />
|
||
<span class="medgenPMjournal">Drug Saf</span>
|
||
2008;31(2):109-26.
|
||
doi: 10.2165/00002018-200831020-00002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18217788" target="_blank">18217788</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16001386">Iatrogenic Horner's syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cavazza S,
|
||
Bocciolini C,
|
||
Gasparrini E,
|
||
Tassinari G</span><br />
|
||
<span class="medgenPMjournal">Eur J Ophthalmol</span>
|
||
2005 Jul-Aug;15(4):504-6.
|
||
doi: 10.1177/112067210501500415.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16001386" target="_blank">16001386</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15088261">Disorders of sweating.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cheshire WP,
|
||
Freeman R</span><br />
|
||
<span class="medgenPMjournal">Semin Neurol</span>
|
||
2003 Dec;23(4):399-406.
|
||
doi: 10.1055/s-2004-817724.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15088261" target="_blank">15088261</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Anhidrosis%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 (128)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38366572">Phenoconversion in pure autonomic failure: a multicentre prospective longitudinal cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Millar Vernetti P,
|
||
Norcliffe-Kaufmann L,
|
||
Palma JA,
|
||
Biaggioni I,
|
||
Shibao CA,
|
||
Peltier A,
|
||
Freeman R,
|
||
Gibbons C,
|
||
Goldstein DS,
|
||
Low PA,
|
||
Singer W,
|
||
Coon EA,
|
||
Miglis MG,
|
||
Wenning GK,
|
||
Fanciulli A,
|
||
Vernino S,
|
||
Betensky RA,
|
||
Kaufmann H</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2024 Jul 5;147(7):2440-2448.
|
||
doi: 10.1093/brain/awae033.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38366572" target="_blank">38366572</a><a href="/pmc/articles/PMC11224600" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35181018">Pregnancy in hereditary sensory and autonomic neuropathy type V: A case report and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Higeta D,
|
||
Morita A,
|
||
Uehara R,
|
||
Inoue M,
|
||
Kameda T,
|
||
Iwase A</span><br />
|
||
<span class="medgenPMjournal">Taiwan J Obstet Gynecol</span>
|
||
2022 Jan;61(1):115-117.
|
||
doi: 10.1016/j.tjog.2021.11.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35181018" target="_blank">35181018</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33419664">Electrodiagnostic assessment of the autonomic nervous system: A consensus statement endorsed by the American Autonomic Society, American Academy of Neurology, and the International Federation of Clinical Neurophysiology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cheshire WP,
|
||
Freeman R,
|
||
Gibbons CH,
|
||
Cortelli P,
|
||
Wenning GK,
|
||
Hilz MJ,
|
||
Spies JM,
|
||
Lipp A,
|
||
Sandroni P,
|
||
Wada N,
|
||
Mano A,
|
||
Ah Kim H,
|
||
Kimpinski K,
|
||
Iodice V,
|
||
Idiáquez J,
|
||
Thaisetthawatkul P,
|
||
Coon EA,
|
||
Low PA,
|
||
Singer W</span><br />
|
||
<span class="medgenPMjournal">Clin Neurophysiol</span>
|
||
2021 Feb;132(2):666-682.
|
||
Epub 2020 Dec 22
|
||
doi: 10.1016/j.clinph.2020.11.024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33419664" target="_blank">33419664</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23358630">A pediatric case of severe pandysautonomia responsive to plasmapheresis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Clark MB,
|
||
Davis T</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2013 Dec;28(12):1716-9.
|
||
Epub 2013 Jan 28
|
||
doi: 10.1177/0883073812474099.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23358630" target="_blank">23358630</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18217788">Drug-induced hyperhidrosis and hypohidrosis: incidence, prevention and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cheshire WP,
|
||
Fealey RD</span><br />
|
||
<span class="medgenPMjournal">Drug Saf</span>
|
||
2008;31(2):109-26.
|
||
doi: 10.2165/00002018-200831020-00002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18217788" target="_blank">18217788</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Anhidrosis%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 (101)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38060563">ALPK1 mutants causing ROSAH syndrome or Spiradenoma are activated by human nucleotide sugars.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Snelling T,
|
||
Saalfrank A,
|
||
Wood NT,
|
||
Cohen P</span><br />
|
||
<span class="medgenPMjournal">Proc Natl Acad Sci U S A</span>
|
||
2023 Dec 12;120(50):e2313148120.
|
||
Epub 2023 Dec 7
|
||
doi: 10.1073/pnas.2313148120.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38060563" target="_blank">38060563</a><a href="/pmc/articles/PMC10723048" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33419664">Electrodiagnostic assessment of the autonomic nervous system: A consensus statement endorsed by the American Autonomic Society, American Academy of Neurology, and the International Federation of Clinical Neurophysiology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cheshire WP,
|
||
Freeman R,
|
||
Gibbons CH,
|
||
Cortelli P,
|
||
Wenning GK,
|
||
Hilz MJ,
|
||
Spies JM,
|
||
Lipp A,
|
||
Sandroni P,
|
||
Wada N,
|
||
Mano A,
|
||
Ah Kim H,
|
||
Kimpinski K,
|
||
Iodice V,
|
||
Idiáquez J,
|
||
Thaisetthawatkul P,
|
||
Coon EA,
|
||
Low PA,
|
||
Singer W</span><br />
|
||
<span class="medgenPMjournal">Clin Neurophysiol</span>
|
||
2021 Feb;132(2):666-682.
|
||
Epub 2020 Dec 22
|
||
doi: 10.1016/j.clinph.2020.11.024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33419664" target="_blank">33419664</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31152459">Why does sweat lead to the development of itch in atopic dermatitis?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Murota H,
|
||
Yamaga K,
|
||
Ono E,
|
||
Murayama N,
|
||
Yokozeki H,
|
||
Katayama I</span><br />
|
||
<span class="medgenPMjournal">Exp Dermatol</span>
|
||
2019 Dec;28(12):1416-1421.
|
||
Epub 2019 Jul 3
|
||
doi: 10.1111/exd.13981.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31152459" target="_blank">31152459</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16001386">Iatrogenic Horner's syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cavazza S,
|
||
Bocciolini C,
|
||
Gasparrini E,
|
||
Tassinari G</span><br />
|
||
<span class="medgenPMjournal">Eur J Ophthalmol</span>
|
||
2005 Jul-Aug;15(4):504-6.
|
||
doi: 10.1177/112067210501500415.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16001386" target="_blank">16001386</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1324036">Fabry's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kato H,
|
||
Sato K,
|
||
Hattori S,
|
||
Ikemoto S,
|
||
Shimizu M,
|
||
Isogai Y</span><br />
|
||
<span class="medgenPMjournal">Intern Med</span>
|
||
1992 May;31(5):682-5.
|
||
doi: 10.2169/internalmedicine.31.682.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1324036" target="_blank">1324036</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Anhidrosis%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 (105)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/39342897">Harlequin sign due to an upper thoracic paravertebral lesion. A systematic review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barbagli G,
|
||
Soto-Rubio D,
|
||
Pacheco-Barrios N,
|
||
Li C,
|
||
Al-Arfaj,
|
||
Hussein A,
|
||
Kelbert J,
|
||
Dholaria N,
|
||
Pico A,
|
||
Deaver C,
|
||
Alhalal I,
|
||
Prim M,
|
||
Baaj AA</span><br />
|
||
<span class="medgenPMjournal">J Clin Neurosci</span>
|
||
2024 Nov;129:110850.
|
||
Epub 2024 Sep 28
|
||
doi: 10.1016/j.jocn.2024.110850.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39342897" target="_blank">39342897</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31186293">Paediatric Horner's syndrome: is investigation for underlying malignancy always required?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Braungart S,
|
||
Craigie RJ,
|
||
Farrelly P,
|
||
Losty PD</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child</span>
|
||
2019 Oct;104(10):984-987.
|
||
Epub 2019 Jun 11
|
||
doi: 10.1136/archdischild-2019-317007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31186293" target="_blank">31186293</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29679503">Prosthetic rehabilitation of patients with hypohidrotic ectodermal dysplasia: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schnabl D,
|
||
Grunert I,
|
||
Schmuth M,
|
||
Kapferer-Seebacher I</span><br />
|
||
<span class="medgenPMjournal">J Oral Rehabil</span>
|
||
2018 Jul;45(7):555-570.
|
||
Epub 2018 May 9
|
||
doi: 10.1111/joor.12638.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29679503" target="_blank">29679503</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Anhidrosis%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 (3)</a></div></div>
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