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<!--
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UID=97905
|
||
ConceptID=C0392777
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Poikiloderma</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>97905</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.">C0392777</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Poikiloderma (70114006); Poikiloderma (402685001)</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:0001029">HP:0001029</a></td></tr>
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<div class="portlet_content ln">Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0392777[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=97905">C</a></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">Poikiloderma</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/871273" ref="tree=MeSH" title="MedGen record for Abnormality of the integument">Abnormality of the integument</a></span><ul><li><span class="TLline"><a href="/medgen/1845238" ref="tree=MeSH" title="MedGen record for Abnormality of the skin">Abnormality of the skin</a></span><ul><li><span class="TLline"><a href="/medgen/869110" ref="tree=MeSH" title="MedGen record for Abnormal skin morphology">Abnormal skin morphology</a></span><ul><li><span class="matched_ds">Poikiloderma</span><ul><li><span class="TLline"><a href="/medgen/1863977" ref="tree=MeSH" title="MedGen record for Holster sign">Holster sign</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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||
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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_75550"><div><strong>DE SANCTIS-CACCHIONE SYNDROME</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75550</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.">C0265201</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75550">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120532"><div><strong>Baller-Gerold syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120532</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.">C0265308</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Baller-Gerold syndrome (BGS) can be suspected at birth in an infant with craniosynostosis and upper limb abnormality. The coronal suture is most commonly affected; the metopic, lambdoid, and sagittal sutures may also be involved alone or in combination. Upper limb abnormality can include a combination of thumb hypo- or aplasia and radial hypo- or aplasia and may be asymmetric. Malformation or absence of carpal or metacarpal bones has also been described. Skin lesions may appear anytime within the first few years after birth, typically beginning with erythema of the face and extremities and evolving into poikiloderma. Slow growth is apparent in infancy with eventual height and length typically at 4 SD below the mean.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120532">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_82775"><div><strong>Xeroderma pigmentosum group A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82775</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.">C0268135</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Xeroderma pigmentosum (XP) is characterized by: Acute sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure) with marked freckle-like pigmentation of the face before age two years; Sunlight-induced ocular involvement (photophobia, severe keratitis, atrophy of the skin of the lids, ocular surface neoplasms); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma) within the first decade of life. Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, progressive cognitive impairment, and ataxia). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82775">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_75656"><div><strong>Xeroderma pigmentosum, group D</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75656</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.">C0268138</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Xeroderma pigmentosum (XP) is characterized by: Acute sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure) with marked freckle-like pigmentation of the face before age two years; Sunlight-induced ocular involvement (photophobia, severe keratitis, atrophy of the skin of the lids, ocular surface neoplasms); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma) within the first decade of life. Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, progressive cognitive impairment, and ataxia). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75656">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_91006"><div><strong>Hereditary sclerosing poikiloderma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>91006</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.">C0343094</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic skin disease characterized by generalized poikiloderma with marked accentuation in flexural regions and on extensor surfaces, sclerosis of palms and soles, and linear and reticulated hyperkeratotic and sclerotic bands in the axilla and the antecubital and popliteal fossae. Subcutaneous calcification, finger clubbing, Raynaud phenomenon, and cardiac abnormalities (such as severe aortic stenosis) have also been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/91006">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_96060"><div><strong>Kindler syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96060</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.">C0406557</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Kindler syndrome (KS), a rare subtype of inherited epidermolysis bullosa, is characterized by skin fragility and acral blister formation beginning at birth, diffuse cutaneous atrophy, photosensitivity (most prominent during childhood and usually decreasing after adolescence), poikiloderma, diffuse palmoplantar hyperkeratosis, and pseudosyndactyly. Mucosal manifestations are also common and include hemorrhagic mucositis and gingivitis, periodontal disease, premature loss of teeth, and labial leukokeratosis. Other mucosal findings can include ectropion, urethral stenosis, and severe phimosis. Severe long-term complications of KS include periodontitis, mucosal strictures, and aggressive squamous cell carcinomas. Manifestations can range from mild to severe.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96060">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_162901"><div><strong>Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162901</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.">C0796031</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/162901">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_373923"><div><strong>PARC syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373923</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.">C1838256</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic developmental defect during embryogenesis. A syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373923">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_376352"><div><strong>Xeroderma pigmentosum variant type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376352</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.">C1848410</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Xeroderma pigmentosum (XP) is characterized by: Acute sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure) with marked freckle-like pigmentation of the face before age two years; Sunlight-induced ocular involvement (photophobia, severe keratitis, atrophy of the skin of the lids, ocular surface neoplasms); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma) within the first decade of life. Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, progressive cognitive impairment, and ataxia). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376352">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341219"><div><strong>Xeroderma pigmentosum, group E</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341219</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.">C1848411</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Xeroderma pigmentosum (XP) is characterized by: Acute sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure) with marked freckle-like pigmentation of the face before age two years; Sunlight-induced ocular involvement (photophobia, severe keratitis, atrophy of the skin of the lids, ocular surface neoplasms); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma) within the first decade of life. Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, progressive cognitive impairment, and ataxia). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341219">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_376398"><div><strong>Vascular hyalinosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376398</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.">C1848590</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare systemic disease characterized by progressive hyalinosis involving capillaries, arterioles and small veins of the digestive tract, kidneys, and retina, associated with idiopathic cerebral calcifications, manifesting with severe diarrhea (with rectal bleeding and malabsorption), nephropathy (with renal failure and systemic hypertension), chorioretinal scarring, and subarachnoid hemorrhage. Poikiloderma and premature greying of the hair may be additionally observed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376398">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_336602"><div><strong>Rapadilino syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336602</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.">C1849453</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The RAPADILINO syndrome is an autosomal recessive disorder characterized by short stature, radial ray defects and other malformations, and infantile diarrhea. The acronym is derived from hallmark features: RA for radial; PA for both absent/hypoplastic patellas and cleft/highly arched palate; DI for diarrhea, as well as dislocated joints; LI for little size and limb malformations; and NO for long, slender nose and normal intelligence. RAPADILINO belongs to the Finnish disease heritage (Kaariainen et al., 1989; Siitonen et al., 2003).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336602">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_388129"><div><strong>Poikiloderma with neutropenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>388129</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.">C1858723</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Poikiloderma with neutropenia (PN) is characterized by an inflammatory eczematous rash (appears at ages 6-12 months) followed by post-inflammatory poikiloderma (at age >2 years) and chronic noncyclic neutropenia typically associated with recurrent sinopulmonary infections in the first two years of life and (often) bronchiectasis. There is increased risk for myelodysplastic syndrome, acute myelogenous leukemia, and skin cancer. Other ectodermal findings include thickened nails, nail dystrophy, and palmar/plantar hyperkeratosis. Most affected individuals also have reactive airway disease, and some have short stature, hypogonadotropic hypogonadism, midfacial retrusion, calcinosis cutis, and non-healing skin ulcers.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/388129">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_355814"><div><strong>Spastic paraplegia-neuropathy-poikiloderma syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355814</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.">C1866851</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355814">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_416702"><div><strong>Xeroderma pigmentosum, group C</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>416702</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.">C2752147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Xeroderma pigmentosum (XP) is characterized by: Acute sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure) with marked freckle-like pigmentation of the face before age two years; Sunlight-induced ocular involvement (photophobia, severe keratitis, atrophy of the skin of the lids, ocular surface neoplasms); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma) within the first decade of life. Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, progressive cognitive impairment, and ataxia). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/416702">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_816655"><div><strong>Hereditary sclerosing poikiloderma with tendon and pulmonary involvement</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816655</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.">C3810325</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) is characterized by the skin findings of poikiloderma (typically beginning in the first six months and mainly localized to the face), hypohidrosis with heat intolerance, mild lymphedema of the extremities, chronic erythematous and scaly skin lesions on the extremities, sclerosis of the digits, and mild palmoplantar keratoderma. Scalp hair, eyelashes, and/or eyebrows are typically sparse. Muscle contractures are usually seen in childhood and can be present as early as age two years. The majority of affected individuals develop progressive weakness of the proximal and distal muscles of all four limbs. Some adults develop progressive interstitial pulmonary fibrosis, which can be life threatening within three to four years after respiratory symptoms appear. Other features are exocrine pancreatic insufficiency, liver impairment, hematologic abnormalities, relative short stature, and cataract.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816655">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863379"><div><strong>Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863379</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.">C4014942</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CAGSSS, which comprises cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, is an autosomal recessive multisystemic disorder with a highly variable phenotypic spectrum. Not all of these features are always present, and almost all the features may present at different times and/or become more apparent with age. The skeletal features are consistent with spondyloepimetaphyseal dysplasia (SEMD) (summary by Vona et al., 2018). One family had a distinctive presentation with infantile-onset intractable seizures and cortical abnormalities reminiscent of Leigh syndrome (see 256000). The correlation between genotype and phenotype remains unclear, but since the IARS2 gene is involved in mitochondrial function, heterogeneous manifestations can be expected (Takezawa et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863379">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684753"><div><strong>Rothmund-Thomson syndrome type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684753</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:">C5203410</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Rothmund-Thomson syndrome (RTS) is characterized by a rash that progresses to poikiloderma; sparse hair, eyelashes, and/or eyebrows; small size; skeletal and dental abnormalities; juvenile cataracts; and an increased risk for cancer, especially osteosarcoma. A variety of benign and malignant hematologic abnormalities have been reported in affected individuals. The rash of RTS typically develops between ages three and six months (occasionally as late as age two years) as erythema, swelling, and blistering on the face, subsequently spreading to the buttocks and extremities. The rash evolves over months to years into the chronic pattern of reticulated hypo- and hyperpigmentation, telangiectasias, and punctate atrophy (collectively known as poikiloderma) that persist throughout life. Hyperkeratotic lesions occur in approximately one third of individuals. Skeletal abnormalities can include radial ray defects, ulnar defects, absent or hypoplastic patella, and osteopenia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684753">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684764"><div><strong>Rothmund-Thomson syndrome type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684764</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.">C5231433</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Rothmund-Thomson syndrome (RTS) is characterized by a rash that progresses to poikiloderma; sparse hair, eyelashes, and/or eyebrows; small size; skeletal and dental abnormalities; juvenile cataracts; and an increased risk for cancer, especially osteosarcoma. A variety of benign and malignant hematologic abnormalities have been reported in affected individuals. The rash of RTS typically develops between ages three and six months (occasionally as late as age two years) as erythema, swelling, and blistering on the face, subsequently spreading to the buttocks and extremities. The rash evolves over months to years into the chronic pattern of reticulated hypo- and hyperpigmentation, telangiectasias, and punctate atrophy (collectively known as poikiloderma) that persist throughout life. Hyperkeratotic lesions occur in approximately one third of individuals. Skeletal abnormalities can include radial ray defects, ulnar defects, absent or hypoplastic patella, and osteopenia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684764">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1757618"><div><strong>Mandibuloacral dysplasia with type A lipodystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1757618</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.">C5399785</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mandibuloacral dysplasia with type A lipodystrophy (MADA) is an autosomal recessive disorder characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. Some patients may show progeroid features. Metabolic complications can arise due to insulin resistance and diabetes (Young et al., 1971; Simha and Garg, 2002; summary by Garavelli et al., 2009). See also MAD type B (MADB; 608612), which is caused by mutation in the ZMPSTE24 gene (606480).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1757618">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1741713"><div><strong>Mandibuloacral dysplasia progeroid syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1741713</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.">C5436867</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mandibuloacral dysplasia progeroid syndrome (MDPS) is an autosomal recessive severe laminopathy-like disorder characterized by growth retardation, bone resorption, arterial calcification, renal glomerulosclerosis, and hypertension (Elouej et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1741713">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794176"><div><strong>Aicardi-Goutieres syndrome 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794176</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.">C5561966</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Aicardi-Goutieres syndrome-9 (AGS9) is a type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration. Patients present in infancy with irritability and spasticity. Brain imaging shows diffusely abnormal white matter, cerebral atrophy, and intracranial calcification. Premature death has been associated with renal and/or hepatic failure (Uggenti et al., 2020). For a general phenotypic description and discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (225750).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794176">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824066"><div><strong>Inflammatory poikiloderma with hair abnormalities and acral keratoses</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824066</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.">C5774293</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inflammatory poikiloderma with hair abnormalities and acral keratoses (IPHAK) is characterized by mottled hyper- and hypopigmentation of the skin as well as sparse scalp hair and eyelashes, sparse or absent eyebrows, and palmoplantar keratoses (Han et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824066">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1854023"><div><strong>Rothmund-Thomson syndrome, type 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1854023</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.">C5935619</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Rothmund-Thomson syndrome type 4 (RTS4) is characterized by severe short stature and microcephaly, widespread poikiloderma, and congenital cataracts and other ocular anomalies. Patients also exhibit sparse hair, facial dysmorphisms, photosensitivity with bullae, dystrophic nails, and bone abnormalities (Di Lazzaro Filho et al., 2023). For a general phenotypic description and discussion of genetic heterogeneity of Rothmund-Thomson syndrome, see RTS2 (268400).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1854023">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794176" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aicardi-Goutieres syndrome 9</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120532" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Baller-Gerold syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863379" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75550" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">DE SANCTIS-CACCHIONE SYNDROME</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162901" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (24)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_91006" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary sclerosing poikiloderma</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816655" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary sclerosing poikiloderma with tendon and pulmonary involvement</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824066" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Inflammatory poikiloderma with hair abnormalities and acral keratoses</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_96060" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kindler syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1741713" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mandibuloacral dysplasia progeroid syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1757618" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mandibuloacral dysplasia with type A lipodystrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_373923" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">PARC syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_388129" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Poikiloderma with neutropenia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336602" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rapadilino syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684764" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rothmund-Thomson syndrome type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rothmund-Thomson syndrome type 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1854023" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rothmund-Thomson syndrome, type 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355814" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic paraplegia-neuropathy-poikiloderma syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376398" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vascular hyalinosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82775" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Xeroderma pigmentosum group A</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376352" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Xeroderma pigmentosum variant type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_416702" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Xeroderma pigmentosum, group C</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75656" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Xeroderma pigmentosum, group D</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341219" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Xeroderma pigmentosum, group E</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/23321617">Clinical utility gene card for: poikiloderma with neutropenia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Larizza L,
|
||
Negri G,
|
||
Colombo EA,
|
||
Volpi L,
|
||
Sznajer Y</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2013 Oct;21(10)
|
||
Epub 2013 Jan 16
|
||
doi: 10.1038/ejhg.2012.298.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23321617" target="_blank">23321617</a><a href="/pmc/articles/PMC3778337" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16338616">National Institutes of Health consensus development project on criteria for clinical trials in chronic graft-versus-host disease: I. Diagnosis and staging working group report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Filipovich AH,
|
||
Weisdorf D,
|
||
Pavletic S,
|
||
Socie G,
|
||
Wingard JR,
|
||
Lee SJ,
|
||
Martin P,
|
||
Chien J,
|
||
Przepiorka D,
|
||
Couriel D,
|
||
Cowen EW,
|
||
Dinndorf P,
|
||
Farrell A,
|
||
Hartzman R,
|
||
Henslee-Downey J,
|
||
Jacobsohn D,
|
||
McDonald G,
|
||
Mittleman B,
|
||
Rizzo JD,
|
||
Robinson M,
|
||
Schubert M,
|
||
Schultz K,
|
||
Shulman H,
|
||
Turner M,
|
||
Vogelsang G,
|
||
Flowers ME</span><br />
|
||
<span class="medgenPMjournal">Biol Blood Marrow Transplant</span>
|
||
2005 Dec;11(12):945-56.
|
||
doi: 10.1016/j.bbmt.2005.09.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16338616" target="_blank">16338616</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11702317">Management of facial hyperpigmentation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pérez-Bernal A,
|
||
Muñoz-Pérez MA,
|
||
Camacho F</span><br />
|
||
<span class="medgenPMjournal">Am J Clin Dermatol</span>
|
||
2000 Sep-Oct;1(5):261-8.
|
||
doi: 10.2165/00128071-200001050-00001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11702317" target="_blank">11702317</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22poikiloderma%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 (24)</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/24602044">Bloom syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arora H,
|
||
Chacon AH,
|
||
Choudhary S,
|
||
McLeod MP,
|
||
Meshkov L,
|
||
Nouri K,
|
||
Izakovic J</span><br />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
2014 Jul;53(7):798-802.
|
||
Epub 2014 Mar 6
|
||
doi: 10.1111/ijd.12408.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24602044" target="_blank">24602044</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23684637">The Mpn1 RNA exonuclease: cellular functions and implication in disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shchepachev V,
|
||
Azzalin CM</span><br />
|
||
<span class="medgenPMjournal">FEBS Lett</span>
|
||
2013 Jun 27;587(13):1858-62.
|
||
Epub 2013 May 15
|
||
doi: 10.1016/j.febslet.2013.05.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23684637" target="_blank">23684637</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20113479">Rothmund-Thomson syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Larizza L,
|
||
Roversi G,
|
||
Volpi L</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2010 Jan 29;5:2.
|
||
doi: 10.1186/1750-1172-5-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20113479" target="_blank">20113479</a><a href="/pmc/articles/PMC2826297" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19945623">Kindler syndrome pathogenesis and fermitin family homologue 1 (kindlin-1) function.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">D'Souza MA,
|
||
Kimble RM,
|
||
McMillan JR</span><br />
|
||
<span class="medgenPMjournal">Dermatol Clin</span>
|
||
2010 Jan;28(1):115-8.
|
||
doi: 10.1016/j.det.2009.10.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19945623" target="_blank">19945623</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15927810">Kindler surprise: mutations in a novel actin-associated protein cause Kindler syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">White SJ,
|
||
McLean WH</span><br />
|
||
<span class="medgenPMjournal">J Dermatol Sci</span>
|
||
2005 Jun;38(3):169-75.
|
||
Epub 2005 Mar 31
|
||
doi: 10.1016/j.jdermsci.2004.12.026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15927810" target="_blank">15927810</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Poikiloderma%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 (86)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27140323">Clinical Snippets.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMjournal">J Invest Dermatol</span>
|
||
2016 May;136(5):888.
|
||
Epub 2016 Apr 20
|
||
doi: 10.1016/j.jid.2016.03.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27140323" target="_blank">27140323</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24626644">Acquired hyperpigmentations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cestari TF,
|
||
Dantas LP,
|
||
Boza JC</span><br />
|
||
<span class="medgenPMjournal">An Bras Dermatol</span>
|
||
2014 Jan-Feb;89(1):11-25.
|
||
doi: 10.1590/abd1806-4841.20142353.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24626644" target="_blank">24626644</a><a href="/pmc/articles/PMC3938350" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24602044">Bloom syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arora H,
|
||
Chacon AH,
|
||
Choudhary S,
|
||
McLeod MP,
|
||
Meshkov L,
|
||
Nouri K,
|
||
Izakovic J</span><br />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
2014 Jul;53(7):798-802.
|
||
Epub 2014 Mar 6
|
||
doi: 10.1111/ijd.12408.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24602044" target="_blank">24602044</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21860153">Facial melanoses: Indian perspective.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khanna N,
|
||
Rasool S</span><br />
|
||
<span class="medgenPMjournal">Indian J Dermatol Venereol Leprol</span>
|
||
2011 Sep-Oct;77(5):552-63; quiz 564.
|
||
doi: 10.4103/0378-6323.84046.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21860153" target="_blank">21860153</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5662546">Tinea incognito.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ive FA,
|
||
Marks R</span><br />
|
||
<span class="medgenPMjournal">Br Med J</span>
|
||
1968 Jul 20;3(5611):149-52.
|
||
doi: 10.1136/bmj.3.5611.149.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5662546" target="_blank">5662546</a><a href="/pmc/articles/PMC1986136" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Poikiloderma%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 (227)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/22031642">Acquired brachial cutaneous dyschromatosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hu SW,
|
||
Chu J,
|
||
Meehan S,
|
||
Kamino H,
|
||
Pomeranz MK</span><br />
|
||
<span class="medgenPMjournal">Dermatol Online J</span>
|
||
2011 Oct 15;17(10):16.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22031642" target="_blank">22031642</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21860153">Facial melanoses: Indian perspective.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khanna N,
|
||
Rasool S</span><br />
|
||
<span class="medgenPMjournal">Indian J Dermatol Venereol Leprol</span>
|
||
2011 Sep-Oct;77(5):552-63; quiz 564.
|
||
doi: 10.4103/0378-6323.84046.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21860153" target="_blank">21860153</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10615903">Dermatomyositis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Callen JP</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2000 Jan 1;355(9197):53-7.
|
||
doi: 10.1016/S0140-6736(99)05157-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10615903" target="_blank">10615903</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5114430">Poikiloderma?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zimmerman MC</span><br />
|
||
<span class="medgenPMjournal">Arch Dermatol</span>
|
||
1971 Oct;104(4):450-1.
|
||
doi: 10.1001/archderm.104.4.450.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5114430" target="_blank">5114430</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5662546">Tinea incognito.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ive FA,
|
||
Marks R</span><br />
|
||
<span class="medgenPMjournal">Br Med J</span>
|
||
1968 Jul 20;3(5611):149-52.
|
||
doi: 10.1136/bmj.3.5611.149.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5662546" target="_blank">5662546</a><a href="/pmc/articles/PMC1986136" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Poikiloderma%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 (64)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35791162">Ocular manifestations in Kindler syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maharana PK,
|
||
Sahay P,
|
||
Mandal S,
|
||
Nagpal R,
|
||
Sharma N</span><br />
|
||
<span class="medgenPMjournal">Indian J Ophthalmol</span>
|
||
2022 Jul;70(7):2585-2587.
|
||
doi: 10.4103/ijo.IJO_791_22.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35791162" target="_blank">35791162</a><a href="/pmc/articles/PMC9426131" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26975629">Xeroderma Pigmentosum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Black JO</span><br />
|
||
<span class="medgenPMjournal">Head Neck Pathol</span>
|
||
2016 Jun;10(2):139-44.
|
||
Epub 2016 Mar 14
|
||
doi: 10.1007/s12105-016-0707-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26975629" target="_blank">26975629</a><a href="/pmc/articles/PMC4838978" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24602044">Bloom syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arora H,
|
||
Chacon AH,
|
||
Choudhary S,
|
||
McLeod MP,
|
||
Meshkov L,
|
||
Nouri K,
|
||
Izakovic J</span><br />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
2014 Jul;53(7):798-802.
|
||
Epub 2014 Mar 6
|
||
doi: 10.1111/ijd.12408.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24602044" target="_blank">24602044</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10615903">Dermatomyositis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Callen JP</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2000 Jan 1;355(9197):53-7.
|
||
doi: 10.1016/S0140-6736(99)05157-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10615903" target="_blank">10615903</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9557787">Vesiculo-bullous dermatomyositis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McCollough ML,
|
||
Cockerell CJ</span><br />
|
||
<span class="medgenPMjournal">Am J Dermatopathol</span>
|
||
1998 Apr;20(2):170-4.
|
||
doi: 10.1097/00000372-199804000-00012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9557787" target="_blank">9557787</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Poikiloderma%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 (61)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34235719">Dermoscopy of acquired pigmentary disorders: a comprehensive review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Krueger L,
|
||
Saizan A,
|
||
Stein JA,
|
||
Elbuluk N</span><br />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
2022 Jan;61(1):7-19.
|
||
Epub 2021 Jul 7
|
||
doi: 10.1111/ijd.15741.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34235719" target="_blank">34235719</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31957900">A novel pathogenic FERMT1 variant in four families with Kindler syndrome in Argentina.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Valinotto LE,
|
||
Natale MI,
|
||
Lusso SB,
|
||
Cella E,
|
||
Gutiérrez O,
|
||
Sebastiani F,
|
||
Manzur GB</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2020 Mar;37(2):337-341.
|
||
Epub 2020 Jan 20
|
||
doi: 10.1111/pde.14076.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31957900" target="_blank">31957900</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29168364">Aggressive periodontitis associated with Kindler syndrome in a large Kindler syndrome pedigree.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yıldırım TT,
|
||
Kaya FA,
|
||
Taşkesen M,
|
||
Dündar S,
|
||
Bozoğlan A,
|
||
Tekin GG,
|
||
Akdeniz S</span><br />
|
||
<span class="medgenPMjournal">Turk J Pediatr</span>
|
||
2017;59(1):56-61.
|
||
doi: 10.24953/turkjped.2017.01.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29168364" target="_blank">29168364</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16338616">National Institutes of Health consensus development project on criteria for clinical trials in chronic graft-versus-host disease: I. Diagnosis and staging working group report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Filipovich AH,
|
||
Weisdorf D,
|
||
Pavletic S,
|
||
Socie G,
|
||
Wingard JR,
|
||
Lee SJ,
|
||
Martin P,
|
||
Chien J,
|
||
Przepiorka D,
|
||
Couriel D,
|
||
Cowen EW,
|
||
Dinndorf P,
|
||
Farrell A,
|
||
Hartzman R,
|
||
Henslee-Downey J,
|
||
Jacobsohn D,
|
||
McDonald G,
|
||
Mittleman B,
|
||
Rizzo JD,
|
||
Robinson M,
|
||
Schubert M,
|
||
Schultz K,
|
||
Shulman H,
|
||
Turner M,
|
||
Vogelsang G,
|
||
Flowers ME</span><br />
|
||
<span class="medgenPMjournal">Biol Blood Marrow Transplant</span>
|
||
2005 Dec;11(12):945-56.
|
||
doi: 10.1016/j.bbmt.2005.09.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16338616" target="_blank">16338616</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12952767">Kindler syndrome: two additional features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al Aboud K,
|
||
Al Hawsawi K,
|
||
Ramesh V</span><br />
|
||
<span class="medgenPMjournal">Dermatol Online J</span>
|
||
2003 Aug;9(3):20.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12952767" target="_blank">12952767</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Poikiloderma%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 (73)</a></div></div>
|
||
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|
||
|
||
<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/24495252">Application of intense pulsed light in the treatment of dermatologic disease: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wat H,
|
||
Wu DC,
|
||
Rao J,
|
||
Goldman MP</span><br />
|
||
<span class="medgenPMjournal">Dermatol Surg</span>
|
||
2014 Apr;40(4):359-77.
|
||
Epub 2014 Feb 4
|
||
doi: 10.1111/dsu.12424.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24495252" target="_blank">24495252</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Poikiloderma%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
||
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|
||
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|
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|
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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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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0392777%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
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<li><a href="/gtr/tests?term=C0392777%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0392777%5bDISCUI%5d" target="_blank">See all (1)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Poikiloderma" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Poikiloderma" target="_blank">MedlinePlus</a></li></ul></div>
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<a href="/pubmed/clinical?term=Poikiloderma" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Poikiloderma%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<h3>Related information</h3>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0392777[DISCUI]" ref="log$=recordlinks">GTR</a>
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0392777[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=97905" ref="log$=recordlinks">PMC Articles</a>
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<div class="row">
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||
<div class="col-lg-12 centered-lg">
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||
<nav class="bottom-links">
|
||
<ul class="mt-3">
|
||
<li>
|
||
<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.nih.gov/">NIH</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.hhs.gov/">HHS</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
|
||
</li>
|
||
</ul>
|
||
</nav>
|
||
</div>
|
||
</div>
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||
</div>
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||
</section>
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<script type="text/javascript" src="/portal/portal3rc.fcgi/rlib/js/InstrumentOmnitureBaseJS/InstrumentNCBIConfigJS/InstrumentNCBIBaseJS/InstrumentPageStarterJS.js?v=1"> </script>
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<script type="text/javascript" src="/portal/portal3rc.fcgi/static/js/hfjs2.js"> </script>
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</div>
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</div>
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||
|
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