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<meta name="keywords" content="C2674695, autosomal dominant pachydermoperiostoses, autosomal dominant pachydermoperiostosis, disease or syndrome, hypertrophic osteoarthropathy, primary, autosomal dominant, pachydermoperiostoses, autosomal dominant, pachydermoperiostosis, autosomal dominant, pdp, autosomal dominant, pho, autosomal dominant, phoad, primary hypertrophic osteoarthropathy, autosomal dominant, slco2a1, 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="Autosomal dominant primary hypertrophic osteoarthropathy (PHOAD) is characterized by 3 major features: digital clubbing, periostosis, and pachydermia. Patients may also experience joint swelling and pain, and some have reported gastrointestinal symptoms, including watery diarrhea. Males are more commonly affected, and more severely affected, than females (Lee et al., 2016; Xu et al., 2021).&#13; Touraine et al. (1935) recognized pachydermoperiostosis (PDP) as a familial disorder with 3 presentations or forms: a complete form with periostosis and pachydermia, an incomplete form without pachydermia, and a forme fruste with pachydermia and minimal skeletal changes.&#13; Genetic Heterogeneity&#13; Autosomal recessive forms of PHO have been reported (see 259100), including PHOAR2E (614441), which is also caused by mutation in the SLCO2A1 gene. Patients with autosomal recessive PHO do not experience gastrointestinal symptoms." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Hypertrophic osteoarthropathy, primary, autosomal dominant (Concept Id: C2674695)
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<!--
UID=382429
ConceptID=C2674695
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hypertrophic osteoarthropathy, primary, autosomal dominant<span class="h1sub">(PHOAD)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382429</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)&#10;Click for more information."><span class="highlight" style="background-color:">C2674695</span></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>PACHYDERMOPERIOSTOSIS, AUTOSOMAL DOMINANT; PDP, AUTOSOMAL DOMINANT; PHO, AUTOSOMAL DOMINANT; PHOAD</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
Gene(s) directly associated with<br />
this condition or phenotype.</div></td>
<td><a target="_blank" title="SLCO2A1 - ID: 6578 - NCBI Gene" href="/gene/6578" class="medgenPMinfo">SLCO2A1</a> (3q22.1-22.2)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0008172" target="_blank">MONDO:0008172</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/167100" target="_blank">167100</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
<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">Autosomal dominant primary hypertrophic osteoarthropathy (PHOAD) is characterized by 3 major features: digital clubbing, periostosis, and pachydermia. Patients may also experience joint swelling and pain, and some have reported gastrointestinal symptoms, including watery diarrhea. Males are more commonly affected, and more severely affected, than females (Lee et al., 2016; Xu et al., 2021).&#13; Touraine et al. (1935) recognized pachydermoperiostosis (PDP) as a familial disorder with 3 presentations or forms: a complete form with periostosis and pachydermia, an incomplete form without pachydermia, and a forme fruste with pachydermia and minimal skeletal changes.&#13; Genetic Heterogeneity&#13; Autosomal recessive forms of PHO have been reported (see 259100), including PHOAR2E (614441), which is also caused by mutation in the SLCO2A1 gene. Patients with autosomal recessive PHO do not experience gastrointestinal symptoms. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
</div>
<div class="portlet mgSection" id="ID_102">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
<div class="divPopper rprt" id="clin_65421"><div><strong>Knee pain</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65421</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)&#10;Click for more information.">C0231749</a></dd><dt><span class="dotprefix"></span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/65421">Feature record</a> | <a href="/medgen?term=%22Knee%20pain%22%5BClinical%20Features%5D%20OR%2065421%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_411843"><div><strong>Elevated urinary prostaglandin E2 level</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>411843</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)&#10;Click for more information.">C2749457</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An increased amount of prostaglandin E2 in the urine.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/411843">Feature record</a> | <a href="/medgen?term=%22Elevated%20urinary%20prostaglandin%20E2%20level%22%5BClinical%20Features%5D%20OR%20411843%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_3129"><div><strong>Clubbing of fingers</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3129</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)&#10;Click for more information.">C0009080</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Terminal broadening of the fingers (distal phalanges of the fingers).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/3129">Feature record</a> | <a href="/medgen?term=%22Clubbing%20of%20fingers%22%5BClinical%20Features%5D%20OR%203129%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_75635"><div><strong>Secretory diarrhea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75635</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)&#10;Click for more information.">C0267557</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/75635">Feature record</a> | <a href="/medgen?term=%22Secretory%20diarrhea%22%5BClinical%20Features%5D%20OR%2075635%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_322394"><div><strong>Periosteal thickening of long tubular bones</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322394</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)&#10;Click for more information.">C1834345</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Thickening of the periosteum of long bone.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/322394">Feature record</a> | <a href="/medgen?term=%22Periosteal%20thickening%20of%20long%20tubular%20bones%22%5BClinical%20Features%5D%20OR%20322394%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_19912"><div><strong>Seborrheic dermatitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19912</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)&#10;Click for more information.">C0036508</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/19912">Feature record</a> | <a href="/medgen?term=%22Seborrheic%20dermatitis%22%5BClinical%20Features%5D%20OR%2019912%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_152379"><div><strong>Acne</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>152379</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)&#10;Click for more information.">C0702166</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/152379">Feature record</a> | <a href="/medgen?term=%22Acne%22%5BClinical%20Features%5D%20OR%20152379%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_5690"><div><strong>Hyperhidrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5690</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)&#10;Click for more information.">C0020458</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/5690">Feature record</a> | <a href="/medgen?term=%22Hyperhidrosis%22%5BClinical%20Features%5D%20OR%205690%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_66024"><div><strong>Thickened skin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66024</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)&#10;Click for more information.">C0241165</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Laminar thickening of skin.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/66024">Feature record</a> | <a href="/medgen?term=%22Thickened%20skin%22%5BClinical%20Features%5D%20OR%2066024%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_78095"><div><strong>Cutis gyrata of scalp</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78095</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)&#10;Click for more information.">C0263417</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/78095">Feature record</a> | <a href="/medgen?term=%22Cutis%20gyrata%20of%20scalp%22%5BClinical%20Features%5D%20OR%2078095%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_2287"><div><strong>Ptosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2287</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)&#10;Click for more information.">C0005745</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/2287">Feature record</a> | <a href="/medgen?term=%22Ptosis%22%5BClinical%20Features%5D%20OR%202287%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3129" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Clubbing of fingers</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75635" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Secretory diarrhea</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2287" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ptosis</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_411843" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated urinary prostaglandin E2 level</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_152379" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acne</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19912" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seborrheic dermatitis</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78095" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cutis gyrata of scalp</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5690" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperhidrosis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66024" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thickened skin</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_322394" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Periosteal thickening of long tubular bones</a></span></li></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65421" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Knee pain</a></span></li></ul></li></ul></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/37705574">Primary hypertrophic osteoarthropathy: genetics, clinical features and management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lu Q,
Xu Y,
Zhang Z,
Li S,
Zhang Z</span><br />
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
2023;14:1235040.
Epub 2023 Aug 29
doi: 10.3389/fendo.2023.1235040.
<span class="bold">PMID: </span><a href="/pubmed/37705574" target="_blank">37705574</a><a href="/pmc/articles/PMC10497106" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32833909">Diagnosis and Management of a Patient With Primary Hypertrophic Osteoarthropathy With SCLO2A1 Pathogenic Variants in Vietnam.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tran TH,
Luu BT,
Pham AD,
Luong LH,
Nguyen LTN,
Nguyen BN,
Van Nguyen H,
Bui TH,
Ta VT,
Van Tran K</span><br />
<span class="medgenPMjournal">J Clin Rheumatol</span>
2021 Dec 1;27(8S):S739-S740.
doi: 10.1097/RHU.0000000000001524.
<span class="bold">PMID: </span><a href="/pubmed/32833909" target="_blank">32833909</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26523041">Primary Hypertrophic Osteoarthropathy: An Update on Patient Features and Treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Giancane G,
Diggle CP,
Legger EG,
Tekstra J,
Prakken B,
Brenkman AB,
Carr IM,
Markham AF,
Bonthron DT,
Wulffraat N</span><br />
<span class="medgenPMjournal">J Rheumatol</span>
2015 Nov;42(11):2211-4.
doi: 10.3899/jrheum.150364.
<span class="bold">PMID: </span><a href="/pubmed/26523041" target="_blank">26523041</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(hypertrophic%20osteoarthropathy%2C%20primary%2C%20autosomal%20dominant)%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 (10)</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/30543354">Thyroid-Related Orbitopathy, Restrictive Strabismus, Dermopathy, and Acropachy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ediriwickrema LS,
Korn BS,
Kikkawa DO</span><br />
<span class="medgenPMjournal">JAMA Ophthalmol</span>
2018 Dec 1;136(12):e183217.
Epub 2018 Dec 13
doi: 10.1001/jamaophthalmol.2018.3217.
<span class="bold">PMID: </span><a href="/pubmed/30543354" target="_blank">30543354</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26728812">Pachydermoperiostosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Munichandrappa P,
Singh N,
Thappa DM</span><br />
<span class="medgenPMjournal">Indian J Dermatol Venereol Leprol</span>
2016 Jan-Feb;82(1):57-8.
doi: 10.4103/0378-6323.172901.
<span class="bold">PMID: </span><a href="/pubmed/26728812" target="_blank">26728812</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25989437">Tetralogy of Fallot.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ali N</span><br />
<span class="medgenPMjournal">JAAPA</span>
2015 Jun;28(6):65-6.
doi: 10.1097/01.JAA.0000462058.86000.b6.
<span class="bold">PMID: </span><a href="/pubmed/25989437" target="_blank">25989437</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23361957">Eyelid thickening and ptosis associated with pachydermoperiostosis: a case report and review of literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ding J,
Li B,
Chen T,
Hao L,
Li D</span><br />
<span class="medgenPMjournal">Aesthetic Plast Surg</span>
2013 Apr;37(2):464-7.
Epub 2013 Jan 30
doi: 10.1007/s00266-013-0062-z.
<span class="bold">PMID: </span><a href="/pubmed/23361957" target="_blank">23361957</a></div>
<div class="nl"><a target="_blank" href="/pubmed/5526937">Pachydermoperiostosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ursing B</span><br />
<span class="medgenPMjournal">Acta Med Scand</span>
1970 Sep;188(3):157-60.
doi: 10.1111/j.0954-6820.1970.tb08019.x.
<span class="bold">PMID: </span><a href="/pubmed/5526937" target="_blank">5526937</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypertrophic%20osteoarthropathy%2C%20primary%2C%20autosomal%20dominant%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 (50)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38598576">Secondary Hypertrophic Osteoarthropathy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lucas Rocha M,
Silvestre-Teixeira V</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2024 Apr 4;390(13):1218.
doi: 10.1056/NEJMicm2309119.
<span class="bold">PMID: </span><a href="/pubmed/38598576" target="_blank">38598576</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37705574">Primary hypertrophic osteoarthropathy: genetics, clinical features and management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lu Q,
Xu Y,
Zhang Z,
Li S,
Zhang Z</span><br />
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
2023;14:1235040.
Epub 2023 Aug 29
doi: 10.3389/fendo.2023.1235040.
<span class="bold">PMID: </span><a href="/pubmed/37705574" target="_blank">37705574</a><a href="/pmc/articles/PMC10497106" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35731213">Pachydermoperiostosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ikeda K,
Miyamori D,
Hirabayashi R,
Ito M</span><br />
<span class="medgenPMjournal">QJM</span>
2022 Sep 22;115(9):611-612.
doi: 10.1093/qjmed/hcac147.
<span class="bold">PMID: </span><a href="/pubmed/35731213" target="_blank">35731213</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35235729">Primary Hypertrophic Osteoarthropathy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yadav N,
Yanamandra U</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2022 Mar 3;386(9):e22.
doi: 10.1056/NEJMicm2113457.
<span class="bold">PMID: </span><a href="/pubmed/35235729" target="_blank">35235729</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24350360">Clubbing.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gibb C,
Smith PJ,
Miller R</span><br />
<span class="medgenPMjournal">Br J Hosp Med (Lond)</span>
2013 Nov;74(11):C170-2.
doi: 10.12968/hmed.2013.74.sup11.c170.
<span class="bold">PMID: </span><a href="/pubmed/24350360" target="_blank">24350360</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypertrophic%20osteoarthropathy%2C%20primary%2C%20autosomal%20dominant%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 (286)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/35580956">Familial Touraine-Solente-Gole syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Biswas S,
Narang H,
Rajput MS,
Makharia G</span><br />
<span class="medgenPMjournal">BMJ Case Rep</span>
2022 May 17;15(5)
doi: 10.1136/bcr-2021-247193.
<span class="bold">PMID: </span><a href="/pubmed/35580956" target="_blank">35580956</a><a href="/pmc/articles/PMC9115028" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32404375">Incomplete primary hypertrophic osteoarthropathy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Prasad A,
Shahi P,
Sehgal A,
Bhagirathi Mallikarjunaswamy M</span><br />
<span class="medgenPMjournal">BMJ Case Rep</span>
2020 May 13;13(5)
doi: 10.1136/bcr-2020-236034.
<span class="bold">PMID: </span><a href="/pubmed/32404375" target="_blank">32404375</a><a href="/pmc/articles/PMC7228455" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31561698">Bisphosphonates use in Pachydermoperiostosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jagdish RK,
Bhatnagar MK,
Malhotra A,
Aggarwal R,
Shailly</span><br />
<span class="medgenPMjournal">J Assoc Physicians India</span>
2019 Sep;67(9):87-90.
<span class="bold">PMID: </span><a href="/pubmed/31561698" target="_blank">31561698</a></div>
<div class="nl"><a target="_blank" href="/pubmed/11328632">Psoriatic onycho-pachydermo-periostitis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dosik JS</span><br />
<span class="medgenPMjournal">Dermatol Online J</span>
2001 Feb;7(1):11.
<span class="bold">PMID: </span><a href="/pubmed/11328632" target="_blank">11328632</a></div>
<div class="nl"><a target="_blank" href="/pubmed/7991880">Arthropathy in cystic fibrosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Johnson S,
Knox AJ</span><br />
<span class="medgenPMjournal">Respir Med</span>
1994 Sep;88(8):567-70.
doi: 10.1016/s0954-6111(05)80003-4.
<span class="bold">PMID: </span><a href="/pubmed/7991880" target="_blank">7991880</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypertrophic%20osteoarthropathy%2C%20primary%2C%20autosomal%20dominant%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 (82)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37591693">Reclassification of the HPGD p.Ala13Glu variant causing primary hypertrophic osteoarthropathy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Alban JJ,
Arango-Ramirez A,
Olave-Rodriguez JA,
Nastasi-Catanese JA,
Rodriguez LX</span><br />
<span class="medgenPMjournal">Cold Spring Harb Mol Case Stud</span>
2023 Dec;9(4)
Epub 2024 Jan 10
doi: 10.1101/mcs.a006291.
<span class="bold">PMID: </span><a href="/pubmed/37591693" target="_blank">37591693</a><a href="/pmc/articles/PMC10815292" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27935768">Hypertrophic Osteoarthropathy: Clinical and Imaging Features.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yap FY,
Skalski MR,
Patel DB,
Schein AJ,
White EA,
Tomasian A,
Masih S,
Matcuk GR Jr</span><br />
<span class="medgenPMjournal">Radiographics</span>
2017 Jan-Feb;37(1):157-195.
Epub 2016 Dec 9
doi: 10.1148/rg.2017160052.
<span class="bold">PMID: </span><a href="/pubmed/27935768" target="_blank">27935768</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26728812">Pachydermoperiostosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Munichandrappa P,
Singh N,
Thappa DM</span><br />
<span class="medgenPMjournal">Indian J Dermatol Venereol Leprol</span>
2016 Jan-Feb;82(1):57-8.
doi: 10.4103/0378-6323.172901.
<span class="bold">PMID: </span><a href="/pubmed/26728812" target="_blank">26728812</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25989437">Tetralogy of Fallot.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ali N</span><br />
<span class="medgenPMjournal">JAAPA</span>
2015 Jun;28(6):65-6.
doi: 10.1097/01.JAA.0000462058.86000.b6.
<span class="bold">PMID: </span><a href="/pubmed/25989437" target="_blank">25989437</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23361957">Eyelid thickening and ptosis associated with pachydermoperiostosis: a case report and review of literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ding J,
Li B,
Chen T,
Hao L,
Li D</span><br />
<span class="medgenPMjournal">Aesthetic Plast Surg</span>
2013 Apr;37(2):464-7.
Epub 2013 Jan 30
doi: 10.1007/s00266-013-0062-z.
<span class="bold">PMID: </span><a href="/pubmed/23361957" target="_blank">23361957</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypertrophic%20osteoarthropathy%2C%20primary%2C%20autosomal%20dominant%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 (50)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/33852188">Monoallelic mutations in SLCO2A1 cause autosomal dominant primary hypertrophic osteoarthropathy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Xu Y,
Zhang Z,
Yue H,
Li S,
Zhang Z</span><br />
<span class="medgenPMjournal">J Bone Miner Res</span>
2021 Aug;36(8):1459-1468.
Epub 2021 May 5
doi: 10.1002/jbmr.4310.
<span class="bold">PMID: </span><a href="/pubmed/33852188" target="_blank">33852188</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20299379">Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Diggle CP,
Carr IM,
Zitt E,
Wusik K,
Hopkin RJ,
Prada CE,
Calabrese O,
Rittinger O,
Punaro MG,
Markham AF,
Bonthron DT</span><br />
<span class="medgenPMjournal">Rheumatology (Oxford)</span>
2010 Jun;49(6):1056-62.
Epub 2010 Mar 18
doi: 10.1093/rheumatology/keq048.
<span class="bold">PMID: </span><a href="/pubmed/20299379" target="_blank">20299379</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8629826">Psoriatic onycho-pachydermo-periostitis. A variant of psoriatic distal interphalangeal arthritis?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Boisseau-Garsaud AM,
Beylot-Barry M,
Doutre MS,
Beylot C,
Baran R</span><br />
<span class="medgenPMjournal">Arch Dermatol</span>
1996 Feb;132(2):176-80.
<span class="bold">PMID: </span><a href="/pubmed/8629826" target="_blank">8629826</a></div>
<div class="nl"><a target="_blank" href="/pubmed/3069757">Acquired pachydermatoglyphy. A cutaneous sign of internal malignancy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pujol RM,
Puig L,
García-Marques JM,
de Moragas JM</span><br />
<span class="medgenPMjournal">Int J Dermatol</span>
1988 Dec;27(10):688-9.
doi: 10.1111/j.1365-4362.1988.tb01264.x.
<span class="bold">PMID: </span><a href="/pubmed/3069757" target="_blank">3069757</a></div>
<div class="nl"><a target="_blank" href="/pubmed/3830509">Clubbing and koilonychia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Stone OJ</span><br />
<span class="medgenPMjournal">Dermatol Clin</span>
1985 Jul;3(3):485-90.
<span class="bold">PMID: </span><a href="/pubmed/3830509" target="_blank">3830509</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypertrophic%20osteoarthropathy%2C%20primary%2C%20autosomal%20dominant%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 (39)</a></div></div>
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<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/38564085">Role of bisphosphonates in hypertrophic osteoarthropathy: a systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Palui R,
Sridharan K,
Sahoo J,
Suryadevara V,
Kamalanathan S,
Naik D,
Halanaik D,
Durgia H,
Raj H</span><br />
<span class="medgenPMjournal">Endocrine</span>
2024 Aug;85(2):883-893.
Epub 2024 Apr 2
doi: 10.1007/s12020-024-03804-5.
<span class="bold">PMID: </span><a href="/pubmed/38564085" target="_blank">38564085</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30962152">Exogenous lipoid pneumonia in children: A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Marangu D,
Gray D,
Vanker A,
Zampoli M</span><br />
<span class="medgenPMjournal">Paediatr Respir Rev</span>
2020 Feb;33:45-51.
Epub 2019 Jan 20
doi: 10.1016/j.prrv.2019.01.001.
<span class="bold">PMID: </span><a href="/pubmed/30962152" target="_blank">30962152</a><a href="/pmc/articles/PMC7106224" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31878983">Primary hypertrophic osteoarthropathy related gastrointestinal complication has distinctive clinical and pathological characteristics: two cases report and review of the literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Q,
Li YH,
Lin GL,
Li Y,
Zhou WX,
Qian JM,
Xia WB,
Wu D</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2019 Dec 26;14(1):297.
doi: 10.1186/s13023-019-1264-5.
<span class="bold">PMID: </span><a href="/pubmed/31878983" target="_blank">31878983</a><a href="/pmc/articles/PMC6933916" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29305259">Effectiveness of non-steroidal anti-inflammatory drugs among patients with primary hypertrophic osteoarthropathy: A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shakya P,
Pokhrel KN,
Mlunde LB,
Tan S,
Ota E,
Niizeki H</span><br />
<span class="medgenPMjournal">J Dermatol Sci</span>
2018 Apr;90(1):21-26.
Epub 2017 Dec 28
doi: 10.1016/j.jdermsci.2017.12.012.
<span class="bold">PMID: </span><a href="/pubmed/29305259" target="_blank">29305259</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypertrophic%20osteoarthropathy%2C%20primary%2C%20autosomal%20dominant%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 (4)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C2674695%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (2)</a></li>
<li><a href="/gtr/tests?term=C2674695%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (3)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2674695%5bDISCUI%5d" target="_blank">See all (3)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=167100" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Hypertrophic%20osteoarthropathy,%20primary,%20autosomal%20dominant" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(hypertrophic%20osteoarthropathy%2C%20primary%2C%20autosomal%20dominant)%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Hypertrophic%20osteoarthropathy%2C%20primary%2C%20autosomal%20dominant%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=601460" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=6578[geneid]" target="_blank">View SLCO2A1 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=167100" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/hypertrophic_osteoarthropathy_primary_autosomal_dominant" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&amp;query=Hypertrophic%20osteoarthropathy,%20primary,%20autosomal%20dominant" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/15101/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=382429" ref="log$=recordlinks">ClinVar</a>
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&amp;from_uid=382429" ref="log$=recordlinks">Gene</a>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C2674695[DISCUI]" ref="log$=recordlinks">GTR</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&amp;linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cccc7af4a390645e0bf60d">Hypertrophic osteoarthropathy, primary, autosomal dominant</a>
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<a class="htb" ref="log$=activity&amp;linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cccc78a68b6b5afc3f2b15">C2674695[conceptid] <span class="number">(1)</span></a>
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<a class="htb" ref="log$=activity&amp;linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67cccc76a68b6b5afc3f26e5">C1860752[trait identifier] AND "Genome-Nilou Lab"[submitter] <span class="number">(1)</span></a>
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