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<!--
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UID=20474
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ConceptID=C0034735
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Raynaud phenomenon</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20474</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.">C0034735</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Raynaud Phenomenon</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Raynaud phenomenon (266261006); Raynaud's phenomenon (266261006); Paroxysmal digital cyanosis (266261006)</td></tr>
|
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<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0030880">HP:0030880</a></td></tr>
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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">An episodic vasoconstriction resulting in discoloration of the skin and pain in the affected areas, often involving fingers or toes. Classically associated with triphasic color changes (white, blue, red) but may be biphasic. Often occurs in response to cold temperatures or emotional stress. May be primary or secondary to an underlying autoimmune disease. [from <a title="NCI Thesaurus" href="http://ncit.nci.nih.gov" class="defSource" target="_blank">NCI</a>]</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">Raynaud phenomenon</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/2848" ref="tree=MeSH" title="MedGen record for Disorder of cardiovascular system">Disorder of cardiovascular system</a></span><ul><li><span class="TLline"><a href="/medgen/116727" ref="tree=MeSH" title="MedGen record for Abnormality of the cardiovascular system">Abnormality of the cardiovascular system</a></span><ul><li><span class="TLline"><a href="/medgen/869166" ref="tree=MeSH" title="MedGen record for Abnormal cardiovascular system physiology">Abnormal cardiovascular system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/868211" ref="tree=MeSH" title="MedGen record for Abnormal vascular physiology">Abnormal vascular physiology</a></span><ul><li><span class="TLline"><a href="/medgen/1370420" ref="tree=MeSH" title="MedGen record for Abnormal arterial physiology">Abnormal arterial physiology</a></span><ul><li><span class="matched_ds">Raynaud phenomenon</span><ul><li><span class="TLline"><a href="/medgen/852423" ref="tree=MeSH" title="MedGen record for Primary Raynaud Phenomenon">Primary Raynaud Phenomenon</a></span></li><li><span class="TLline"><a href="/medgen/705755" ref="tree=MeSH" title="MedGen record for Secondary Raynaud phenomenon">Secondary Raynaud phenomenon</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet mgSection" id="ID_112">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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<div class="divPopper rprt" id="rdis_2568"><div><strong>Behcet disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2568</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.">C0004943</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Behçet disease is an inflammatory condition that affects many parts of the body. The health problems associated with Behçet disease result from widespread inflammation of blood vessels (vasculitis). This inflammation most commonly affects small blood vessels in the mouth, genitals, skin, and eyes.\n\nPainful mouth sores called aphthous ulcers are usually the first sign of Behçet disease. These sores can occur on the lips, tongue, inside the cheeks, the roof of the mouth, the throat, and the tonsils. The ulcers look like common canker sores, and they typically heal within one to two weeks. About 75 percent of all people with Behçet disease develop similar ulcers on the genitals. These ulcers occur most frequently on the scrotum in men and on the labia in women.\n\nBehçet disease can also cause painful bumps and sores on the skin. Most affected individuals develop pus-filled bumps that resemble acne. These bumps can occur anywhere on the body. Some affected people also have red, tender nodules called erythema nodosum. These nodules usually develop on the legs but can also occur on the arms, face, and neck.\n\nAn inflammation of the eye called uveitis is found in more than half of people with Behçet disease. Eye problems are more common in younger people with the disease and affect men more often than women. Uveitis can result in blurry vision and an extreme sensitivity to light (photophobia). Rarely, inflammation can also cause eye pain and redness. If untreated, the eye problems associated with Behçet disease can lead to blindness.\n\nJoint involvement is also common in Behçet disease. Often this affects one joint at a time, with each affected joint becoming swollen and painful and then getting better.\n\nLess commonly, Behçet disease can affect the brain and spinal cord (central nervous system), gastrointestinal tract, large blood vessels, heart, lungs, and kidneys. Central nervous system abnormalities can lead to headaches, confusion, personality changes, memory loss, impaired speech, and problems with balance and movement. Involvement of the gastrointestinal tract can lead to a hole in the wall of the intestine (intestinal perforation), which can cause serious infection and may be life-threatening.\n\nThe signs and symptoms of Behçet disease usually begin in a person's twenties or thirties, although they can appear at any age. Some affected people have relatively mild symptoms that are limited to sores in the mouth and on the genitals. Others have more severe symptoms affecting various parts of the body, including the eyes and the vital organs. The features of Behçet disease typically come and go over a period of months or years. In most affected individuals, the health problems associated with this disorder improve with age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2568">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_9822"><div><strong>Chilblain lupus 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9822</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0024145</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Chilblain lupus is a cutaneous form of systemic lupus erythematosus (SLE; 152700) characterized by the appearance of painful bluish-red papular or nodular lesions of the skin in acral locations (including the dorsal aspects of fingers and toes, heels, nose, cheeks, ears, and, in some cases, knees) precipitated by cold and wet exposure (summary by Lee-Kirsch et al., 2006). Genetic Heterogeneity of Chilblain Lupus See also CHBL2 (614415), caused by mutation in the SAMHD1 gene (606754) on chromosome 20q11. Mutations in the TREX1 and SAMHD1 genes also cause Aicardi-Goutieres syndrome (AGS1, 225750 and AGS5, 612952, respectively).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9822">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_20473"><div><strong>Raynaud disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20473</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.">C0034734</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Raynaud phenomenon is characterized by episodic digital vasospasms that are provoked by cold and/or emotional stress. In the absence of an identifiable disease process, such as scleroderma or traumatic vibration, the condition is termed primary Raynaud disease (summary by Freedman and Mayes, 1996).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20473">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_21531"><div><strong>Thromboangiitis obliterans</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21531</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.">C0040021</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare inflammatory, non-necrotizing, non-atherosclerotic, occlusive vascular disease characterized by thrombosis and recanalization affecting small and medium sized arteries and veins of upper and lower extremities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21531">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_75658"><div><strong>Primary hyperoxaluria, type I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75658</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:">C0268164</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary hyperoxaluria type 1 (PH1) is caused by deficiency of the liver peroxisomal enzyme alanine-glyoxylate aminotransferase (AGT), which catalyzes the conversion of glyoxylate to glycine. When AGT activity is reduced or absent, glyoxylate is converted to oxalate, which cannot be metabolized and must be excreted by the kidneys. Insoluble calcium oxalate crystals form due to high urinary oxalate concentration. Urinary crystals aggregate, leading to nephrolithiasis (i.e., calcium oxalate kidney stones) in the renal pelvis / urinary tract; often the crystals deposit in kidney parenchyma (nephrocalcinosis). The age at presentation of PH1 ranges from infancy (age <12 months) in 10% of individuals, childhood/adolescence (age 1-17 years) in 70%, and adulthood (age =18 years) in 20%. The natural history of untreated PH1 is (1) progressive decline in kidney function due to complications of nephrolithiasis (e.g., urinary obstruction, infection) and nephrocalcinosis, and (2) in persons with advanced chronic kidney disease (CKD), high plasma oxalate concentrations result in other organ and tissue damage from calcium oxalate deposition (i.e., "oxalosis"), most commonly in the bones, heart, and retina. In the absence of treatment, progression of oxalosis results in death from kidney failure and/or other organ involvement.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75658">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_450547"><div><strong>Reynolds syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>450547</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.">C0748397</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An autoimmune disorder characterized by the association of primary biliary cirrhosis with limited cutaneous systemic sclerosis. Onset occurs between 30-65 years. Occurs sporadically, but rare familial cases with an unknown inheritance pattern have been observed. There is no cure and management is mainly supportive.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/450547">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_375009"><div><strong>Spondyloenchondrodysplasia with immune dysregulation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375009</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.">C1842763</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency. Neurologic and autoimmune manifestations have been observed in different combinations within a single family, suggesting that this disorder may be defined by specific radiographic features but has remarkably pleiotropic manifestations (Renella et al., 2006). Briggs et al. (2016) also noted variability in skeletal, neurologic, and immune phenotypes, which was sometimes marked between members of the same family. Classification of the Enchondromatoses In their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (156250), type III; and spondyloenchondrodysplasia (SPENCD), also called spondyloenchondromatosis, type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978). Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375009">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_348124"><div><strong>Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>348124</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.">C1860518</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a small-vessel disease that affects highly vascularized tissues including the retina, brain, liver, and kidneys. Age of onset is often between 35 and 50 years. The most common presenting finding is decreased visual acuity and/or visual field defects. Neurologic manifestations may include hemiparesis, facial weakness, aphasia, and hemianopsia. Migraines and seizures are less frequently described. Renal manifestations may include mild-to-moderate increase in serum creatinine and mild proteinuria; progression to end-stage renal disease (ESRD) is uncommon. Hepatic manifestations frequently include mildly elevated levels of alkaline phosphatase and gamma-glutamyltransferase (GGT). Less common findings include psychiatric disorders, hypertension, mild-to-moderate anemia, and Raynaud phenomenon.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/348124">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_382033"><div><strong>Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382033</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.">C2673195</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The spectrum of COL4A1-related disorders includes: small-vessel brain disease of varying severity including porencephaly, variably associated with eye defects (retinal arterial tortuosity, Axenfeld-Rieger anomaly, cataract) and systemic findings (kidney involvement, muscle cramps, cerebral aneurysms, Raynaud phenomenon, cardiac arrhythmia, and hemolytic anemia). On imaging studies, small-vessel brain disease is manifest as diffuse periventricular leukoencephalopathy, lacunar infarcts, microhemorrhage, dilated perivascular spaces, and deep intracerebral hemorrhages. Clinically, small-vessel brain disease manifests as infantile hemiparesis, seizures, single or recurrent hemorrhagic stroke, ischemic stroke, and isolated migraine with aura. Porencephaly (fluid-filled cavities in the brain detected by CT or MRI) is typically manifest as infantile hemiparesis, seizures, and intellectual disability; however, on occasion it can be an incidental finding. HANAC (hereditary angiopathy with nephropathy, aneurysms, and muscle cramps) syndrome usually associates asymptomatic small-vessel brain disease, cerebral large vessel involvement (i.e., aneurysms), and systemic findings involving the kidney, muscle, and small vessels of the eye. Two additional phenotypes include isolated retinal artery tortuosity and nonsyndromic autosomal dominant congenital cataract.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/382033">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_816733"><div><strong>Moyamoya disease with early-onset achalasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816733</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.">C3810403</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Moyamoya disease-6 (MYMY6) is a progressive vasculopathy characterized by occlusion of the terminal portion of the internal carotid arteries and its branches, and the formation of compensatory neovascularization and the moyamoya, or 'puff of smoke,' appearance of these vessels on angiogram. Affected individuals may present with ischemic strokes, intracerebral hemorrhage, or transient ischemic attacks. Patients with MYMY6 usually present early in life with achalasia. Hypertension and Raynaud phenomenon may be associated features (summary by Wallace et al., 2016; Herve et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 (252350).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816733">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_854497"><div><strong>Vasculitis due to ADA2 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854497</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.">C3887654</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Adenosine deaminase 2 deficiency (DADA2) is a complex systemic autoinflammatory disorder in which vasculopathy/vasculitis, dysregulated immune function, and/or hematologic abnormalities may predominate. Inflammatory features include intermittent fevers, rash (often livedo racemosa/reticularis), and musculoskeletal involvement (myalgia/arthralgia, arthritis, myositis). Vasculitis, which usually begins before age ten years, may manifest as early-onset ischemic (lacunar) and/or hemorrhagic strokes, or as cutaneous or systemic polyarteritis nodosa. Hypertension and hepatosplenomegaly are often found. More severe involvement may lead to progressive central neurologic deficits (dysarthria, ataxia, cranial nerve palsies, cognitive impairment) or to ischemic injury to the kidney, intestine, and/or digits. Dysregulation of immune function can lead to immunodeficiency or autoimmunity of varying severity; lymphadenopathy may be present and some affected individuals have had lymphoproliferative disease. Hematologic disorders may begin early in life or in late adulthood, and can include lymphopenia, neutropenia, pure red cell aplasia, thrombocytopenia, or pancytopenia. Of note, both interfamilial and intrafamilial phenotypic variability (e.g., in age of onset, frequency and severity of manifestations) can be observed; also, individuals with biallelic ADA2 pathogenic variants may remain asymptomatic until adulthood or may never develop clinical manifestations of DADA2.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854497">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863159"><div><strong>STING-associated vasculopathy with onset in infancy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863159</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.">C4014722</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">STING-associated vasculopathy with onset in infancy is an autoinflammatory vasculopathy causing severe skin lesions, particularly affecting the face, ears, nose, and digits, and resulting in ulceration, eschar formation, necrosis, and, in some cases, amputation. Many patients have interstitial lung disease. Tissue biopsy and laboratory findings show a hyperinflammatory state, with evidence of increased beta-interferon (IFNB1; 147640) signaling (summary by Liu et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863159">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_864147"><div><strong>Tenorio syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>864147</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.">C4015710</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tenorio syndrome (TNORS) is characterized by overgrowth, macrocephaly, and impaired intellectual development. Some patients may have mild hydrocephaly, hypoglycemia, and inflammatory diseases resembling Sjogren syndrome (270150) (summary by Tenorio et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/864147">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1804329"><div><strong>Systemic lupus erythematosus 17</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1804329</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.">C5676884</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Systemic lupus erythematosus-17 (SLEB17) is an X-linked dominant autoimmune disorder characterized by onset of systemic autoinflammatory symptoms in the first decades of life. Only affected females have been reported. Features may include classic features of SLE, such as malar rash and arthralgias, or can include less common entities such as hemiplegia and neuromyelitis optica (NMO). Laboratory studies show the presence of autoantibodies and enhanced NFKB (164011) signaling, the latter being consistent with a gain-of-function effect (Brown et al., 2022). For a phenotypic description and a discussion of genetic heterogeneity of systemic lupus erythematosus (SLE), see 152700.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1804329">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1847802"><div><strong>Immunodeficiency, common variable, 15</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1847802</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.">C5882741</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Common variable immunodeficiency-15 (CVID15) is an autosomal dominant immunologic disorder characterized by the onset of severe recurrent infections in infancy or early childhood. Laboratory studies show hypogammaglobulinemia with antibody deficiencies of IgM, IgG, and IgA due to impaired plasma cell homeostasis, although other B cell subset numbers are normal. T and NK cells are also normal. Treatment with IV Ig results in a favorable clinical response to recurrent infections (Schubert et al., 2018). For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1847802">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1853829"><div><strong>Bleeding disorder, vascular-type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1853829</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.">C5935577</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Vascular-type bleeding disorder (BDVAS) is an autosomal dominant condition characterized by spontaneous episodic bleeding usually beginning in childhood. Features include epistaxis, oral cavity bleeding, menorrhagia, and excessive bleeding during surgery or childbirth. Platelet function is normal and platelet transfusion does not alleviate the bleeding (Stritt et al., 2023).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1853829">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_382033" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_2568" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Behcet disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1853829" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bleeding disorder, vascular-type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_9822" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chilblain lupus 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1847802" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency, common variable, 15</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (16)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816733" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Moyamoya disease with early-onset achalasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75658" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary hyperoxaluria, type I</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_20473" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Raynaud disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_348124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_450547" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reynolds syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_375009" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloenchondrodysplasia with immune dysregulation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863159" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">STING-associated vasculopathy with onset in infancy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1804329" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Systemic lupus erythematosus 17</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_864147" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tenorio syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_21531" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thromboangiitis obliterans</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854497" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vasculitis due to ADA2 deficiency</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/36849541">State-of-the-art evidence in the treatment of systemic sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pope JE,
|
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Denton CP,
|
||
Johnson SR,
|
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Fernandez-Codina A,
|
||
Hudson M,
|
||
Nevskaya T</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Rheumatol</span>
|
||
2023 Apr;19(4):212-226.
|
||
Epub 2023 Feb 27
|
||
doi: 10.1038/s41584-023-00909-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36849541" target="_blank">36849541</a><a href="/pmc/articles/PMC9970138" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35773968">Botulinum toxin in the treatment of Raynaud phenomenon in patients with systemic sclerosis: a systemic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cai R,
|
||
Yi Z,
|
||
Li T,
|
||
Mu R</span><br />
|
||
<span class="medgenPMjournal">Chin Med J (Engl)</span>
|
||
2022 May 5;135(9):1133-1134.
|
||
doi: 10.1097/CM9.0000000000001903.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35773968" target="_blank">35773968</a><a href="/pmc/articles/PMC9276337" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19824738">Cutaneous lupus erythematosus: issues in diagnosis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Walling HW,
|
||
Sontheimer RD</span><br />
|
||
<span class="medgenPMjournal">Am J Clin Dermatol</span>
|
||
2009;10(6):365-81.
|
||
doi: 10.2165/11310780-000000000-00000.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19824738" target="_blank">19824738</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22raynaud%20phenomenon%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 (47)</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/34053315">Considerations for Hand Surgery in Patients With Scleroderma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brown CR,
|
||
Crouser NJ,
|
||
Speeckaert AL</span><br />
|
||
<span class="medgenPMjournal">Hand (N Y)</span>
|
||
2023 Jan;18(1):32-39.
|
||
Epub 2021 May 31
|
||
doi: 10.1177/15589447211017211.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34053315" target="_blank">34053315</a><a href="/pmc/articles/PMC9806536" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34846996">Cutaneous Cold Weather Injuries in the US Military.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kowtoniuk RA,
|
||
Liu YE,
|
||
Jeter JP</span><br />
|
||
<span class="medgenPMjournal">Cutis</span>
|
||
2021 Oct;108(4):181-184.
|
||
doi: 10.12788/cutis.0363.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34846996" target="_blank">34846996</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34686269">Raynaud Phenomenon and Other Vasospastic Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Casanegra AI,
|
||
Shepherd RF</span><br />
|
||
<span class="medgenPMjournal">Cardiol Clin</span>
|
||
2021 Nov;39(4):583-599.
|
||
doi: 10.1016/j.ccl.2021.06.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34686269" target="_blank">34686269</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33562846">Therapeutic Use of Botulinum Neurotoxins in Dermatology: Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martina E,
|
||
Diotallevi F,
|
||
Radi G,
|
||
Campanati A,
|
||
Offidani A</span><br />
|
||
<span class="medgenPMjournal">Toxins (Basel)</span>
|
||
2021 Feb 5;13(2)
|
||
doi: 10.3390/toxins13020120.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33562846" target="_blank">33562846</a><a href="/pmc/articles/PMC7915854" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23158111">Raynaud phenomenon.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Porter SB,
|
||
Murray PM</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Am</span>
|
||
2013 Feb;38(2):375-7; quiz 378.
|
||
Epub 2012 Nov 13
|
||
doi: 10.1016/j.jhsa.2012.08.035.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23158111" target="_blank">23158111</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Raynaud%20phenomenon%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 (248)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36849541">State-of-the-art evidence in the treatment of systemic sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pope JE,
|
||
Denton CP,
|
||
Johnson SR,
|
||
Fernandez-Codina A,
|
||
Hudson M,
|
||
Nevskaya T</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Rheumatol</span>
|
||
2023 Apr;19(4):212-226.
|
||
Epub 2023 Feb 27
|
||
doi: 10.1038/s41584-023-00909-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36849541" target="_blank">36849541</a><a href="/pmc/articles/PMC9970138" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34846996">Cutaneous Cold Weather Injuries in the US Military.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kowtoniuk RA,
|
||
Liu YE,
|
||
Jeter JP</span><br />
|
||
<span class="medgenPMjournal">Cutis</span>
|
||
2021 Oct;108(4):181-184.
|
||
doi: 10.12788/cutis.0363.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34846996" target="_blank">34846996</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26195579">Lingual Raynaud phenomenon.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ghiam AF,
|
||
Cho J</span><br />
|
||
<span class="medgenPMjournal">CMAJ</span>
|
||
2015 Oct 20;187(15):1160.
|
||
Epub 2015 Jul 20
|
||
doi: 10.1503/cmaj.140784.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26195579" target="_blank">26195579</a><a href="/pmc/articles/PMC4610842" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23158111">Raynaud phenomenon.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Porter SB,
|
||
Murray PM</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Am</span>
|
||
2013 Feb;38(2):375-7; quiz 378.
|
||
Epub 2012 Nov 13
|
||
doi: 10.1016/j.jhsa.2012.08.035.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23158111" target="_blank">23158111</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19824738">Cutaneous lupus erythematosus: issues in diagnosis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Walling HW,
|
||
Sontheimer RD</span><br />
|
||
<span class="medgenPMjournal">Am J Clin Dermatol</span>
|
||
2009;10(6):365-81.
|
||
doi: 10.2165/11310780-000000000-00000.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19824738" target="_blank">19824738</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Raynaud%20phenomenon%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 (324)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36849541">State-of-the-art evidence in the treatment of systemic sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pope JE,
|
||
Denton CP,
|
||
Johnson SR,
|
||
Fernandez-Codina A,
|
||
Hudson M,
|
||
Nevskaya T</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Rheumatol</span>
|
||
2023 Apr;19(4):212-226.
|
||
Epub 2023 Feb 27
|
||
doi: 10.1038/s41584-023-00909-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36849541" target="_blank">36849541</a><a href="/pmc/articles/PMC9970138" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33562846">Therapeutic Use of Botulinum Neurotoxins in Dermatology: Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martina E,
|
||
Diotallevi F,
|
||
Radi G,
|
||
Campanati A,
|
||
Offidani A</span><br />
|
||
<span class="medgenPMjournal">Toxins (Basel)</span>
|
||
2021 Feb 5;13(2)
|
||
doi: 10.3390/toxins13020120.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33562846" target="_blank">33562846</a><a href="/pmc/articles/PMC7915854" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28985172">Treating Raynaud phenomenon: Beyond staying warm.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shapiro SC,
|
||
Wigley FM</span><br />
|
||
<span class="medgenPMjournal">Cleve Clin J Med</span>
|
||
2017 Oct;84(10):797-804.
|
||
doi: 10.3949/ccjm.84a.17025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28985172" target="_blank">28985172</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23158111">Raynaud phenomenon.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Porter SB,
|
||
Murray PM</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Am</span>
|
||
2013 Feb;38(2):375-7; quiz 378.
|
||
Epub 2012 Nov 13
|
||
doi: 10.1016/j.jhsa.2012.08.035.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23158111" target="_blank">23158111</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19687715">Calcium channel blocker toxicity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arroyo AM,
|
||
Kao LW</span><br />
|
||
<span class="medgenPMjournal">Pediatr Emerg Care</span>
|
||
2009 Aug;25(8):532-8; quiz 539-40.
|
||
doi: 10.1097/PEC.0b013e3181b0a504.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19687715" target="_blank">19687715</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Raynaud%20phenomenon%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 (182)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34686269">Raynaud Phenomenon and Other Vasospastic Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Casanegra AI,
|
||
Shepherd RF</span><br />
|
||
<span class="medgenPMjournal">Cardiol Clin</span>
|
||
2021 Nov;39(4):583-599.
|
||
doi: 10.1016/j.ccl.2021.06.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34686269" target="_blank">34686269</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32487712">Different phenotypes in dermatomyositis associated with anti-MDA5 antibody: Study of 121 cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Allenbach Y,
|
||
Uzunhan Y,
|
||
Toquet S,
|
||
Leroux G,
|
||
Gallay L,
|
||
Marquet A,
|
||
Meyer A,
|
||
Guillaud C,
|
||
Limal N,
|
||
Gagnadoux F,
|
||
Hervier B,
|
||
Borie R,
|
||
Deligny C,
|
||
Terrier B,
|
||
Berezne A,
|
||
Audia S,
|
||
Champtiaux N,
|
||
Devilliers H,
|
||
Voermans N,
|
||
Diot E,
|
||
Servettaz A,
|
||
Marhadour T,
|
||
Castelain V,
|
||
Humbert S,
|
||
Blanchard-Delaunay C,
|
||
Tieulie N,
|
||
Charles P,
|
||
Gerin M,
|
||
Mekinian A,
|
||
Priou P,
|
||
Meurice JC,
|
||
Tazi A,
|
||
Cottin V,
|
||
Miyara M,
|
||
Grange B,
|
||
Israël-Biet D,
|
||
Phin-Huynh S,
|
||
Bron C,
|
||
De Saint Martin L,
|
||
Fabien N,
|
||
Mariampillai K,
|
||
Nunes H,
|
||
Benveniste O;
|
||
French Myositis Network</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2020 Jul 7;95(1):e70-e78.
|
||
Epub 2020 Jun 2
|
||
doi: 10.1212/WNL.0000000000009727.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32487712" target="_blank">32487712</a><a href="/pmc/articles/PMC7371381" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21238823">Update on morphea: part I. Epidemiology, clinical presentation, and pathogenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fett N,
|
||
Werth VP</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
2011 Feb;64(2):217-28; quiz 229-30.
|
||
doi: 10.1016/j.jaad.2010.05.045.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21238823" target="_blank">21238823</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17976138">Differential diagnosis of scleroderma and pseudoscleroderma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fabri M,
|
||
Hunzelmann N</span><br />
|
||
<span class="medgenPMjournal">J Dtsch Dermatol Ges</span>
|
||
2007 Nov;5(11):977-84.
|
||
doi: 10.1111/j.1610-0387.2007.06311.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17976138" target="_blank">17976138</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3551081">Raynaud phenomenon.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Campbell PM,
|
||
LeRoy EC</span><br />
|
||
<span class="medgenPMjournal">Semin Arthritis Rheum</span>
|
||
1986 Nov;16(2):92-103.
|
||
doi: 10.1016/0049-0172(86)90043-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3551081" target="_blank">3551081</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Raynaud%20phenomenon%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 (163)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37973284">E Carwile LeRoy, MD.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Silver RM</span><br />
|
||
<span class="medgenPMjournal">Rheum Dis Clin North Am</span>
|
||
2024 Feb;50(1):33-45.
|
||
Epub 2023 Sep 6
|
||
doi: 10.1016/j.rdc.2023.08.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37973284" target="_blank">37973284</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37582056">Raynaud phenomenon and microvasculopathy in systemic sclerosis: multi-modality imaging for diagnosis and evaluation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Markousis-Mavrogenis G,
|
||
Bournia VK,
|
||
Sfikakis PP,
|
||
Mavrogeni SI</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Rheumatol</span>
|
||
2023 Nov 1;35(6):324-333.
|
||
Epub 2023 Aug 13
|
||
doi: 10.1097/BOR.0000000000000965.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37582056" target="_blank">37582056</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35687757">Sutimlimab in patients with cold agglutinin disease: results of the randomized placebo-controlled phase 3 CADENZA trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Röth A,
|
||
Berentsen S,
|
||
Barcellini W,
|
||
D'Sa S,
|
||
Jilma B,
|
||
Michel M,
|
||
Weitz IC,
|
||
Yamaguchi M,
|
||
Nishimura JI,
|
||
Vos JMI,
|
||
Storek M,
|
||
Wong N,
|
||
Patel P,
|
||
Jiang X,
|
||
Vagge DS,
|
||
Wardęcki M,
|
||
Shafer F,
|
||
Lee M,
|
||
Broome CM</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2022 Sep 1;140(9):980-991.
|
||
doi: 10.1182/blood.2021014955.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35687757" target="_blank">35687757</a><a href="/pmc/articles/PMC9437710" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29320840">Microvascular damage evaluation in systemic sclerosis: the role of nailfold videocapillaroscopy and laser techniques.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ruaro B,
|
||
Sulli A,
|
||
Smith V,
|
||
Pizzorni C,
|
||
Paolino S,
|
||
Alessandri E,
|
||
Cutolo M</span><br />
|
||
<span class="medgenPMjournal">Reumatismo</span>
|
||
2017 Dec 21;69(4):147-155.
|
||
doi: 10.4081/reumatismo.2017.959.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29320840" target="_blank">29320840</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28921059">Very Early Systemic Sclerosis and Pre-systemic Sclerosis: Definition, Recognition, Clinical Relevance and Future Directions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bellando-Randone S,
|
||
Matucci-Cerinic M</span><br />
|
||
<span class="medgenPMjournal">Curr Rheumatol Rep</span>
|
||
2017 Sep 18;19(10):65.
|
||
doi: 10.1007/s11926-017-0684-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28921059" target="_blank">28921059</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Raynaud%20phenomenon%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 (159)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
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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/39063426">Raynaud's Phenomenon of the Nipple: Epidemiological, Clinical, Pathophysiological, and Therapeutic Characterization.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moreira TG,
|
||
Castro GM,
|
||
Gonçalves Júnior J</span><br />
|
||
<span class="medgenPMjournal">Int J Environ Res Public Health</span>
|
||
2024 Jun 28;21(7)
|
||
doi: 10.3390/ijerph21070849.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39063426" target="_blank">39063426</a><a href="/pmc/articles/PMC11276586" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38134088">Risk factors of systemic lupus erythematosus patients with pulmonary arterial hypertension: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lun X,
|
||
Yang J,
|
||
Liu Y,
|
||
Zhao F,
|
||
Wei Z,
|
||
Sun Y,
|
||
Zhou X</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2023 Dec 22;102(51):e36654.
|
||
doi: 10.1097/MD.0000000000036654.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38134088" target="_blank">38134088</a><a href="/pmc/articles/PMC10735116" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37011178">Botulinum Toxins for the Treatment of Raynaud Phenomenon: A Systematic Review With Meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhou Y,
|
||
Yu Y,
|
||
Bi S,
|
||
Cen Y</span><br />
|
||
<span class="medgenPMjournal">J Clin Rheumatol</span>
|
||
2023 Aug 1;29(5):e92-e99.
|
||
Epub 2023 Apr 4
|
||
doi: 10.1097/RHU.0000000000001965.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37011178" target="_blank">37011178</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35773968">Botulinum toxin in the treatment of Raynaud phenomenon in patients with systemic sclerosis: a systemic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cai R,
|
||
Yi Z,
|
||
Li T,
|
||
Mu R</span><br />
|
||
<span class="medgenPMjournal">Chin Med J (Engl)</span>
|
||
2022 May 5;135(9):1133-1134.
|
||
doi: 10.1097/CM9.0000000000001903.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35773968" target="_blank">35773968</a><a href="/pmc/articles/PMC9276337" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33562846">Therapeutic Use of Botulinum Neurotoxins in Dermatology: Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martina E,
|
||
Diotallevi F,
|
||
Radi G,
|
||
Campanati A,
|
||
Offidani A</span><br />
|
||
<span class="medgenPMjournal">Toxins (Basel)</span>
|
||
2021 Feb 5;13(2)
|
||
doi: 10.3390/toxins13020120.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33562846" target="_blank">33562846</a><a href="/pmc/articles/PMC7915854" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Raynaud%20phenomenon%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 (11)</a></div></div>
|
||
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|
||
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|
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|
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|
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<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
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|
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|
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Raynaud%20phenomenon" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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|
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22raynaud%20phenomenon%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">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(%22Raynaud%20phenomenon%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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