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<meta name="keywords" content="C0860439, finding, mottled pigmentation, mottled skin coloring, mottled skin colouring, stippled pigmentation, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Patchy and irregular skin pigmentation." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=163653
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ConceptID=C0860439
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Mottled pigmentation</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163653</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:">C0860439</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
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<td>Mottled skin coloring; Mottled skin colouring; Stippled pigmentation</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:0001070">HP:0001070</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>
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||
<div class="portlet_content ln">Patchy and irregular skin pigmentation. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Mottled pigmentation</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="TLline"><a href="/medgen/224697" ref="tree=MeSH" title="MedGen record for Abnormality of skin pigmentation">Abnormality of skin pigmentation</a></span><ul><li><span class="matched_ds">Mottled pigmentation</span><ul><li><span class="TLline"><a href="/medgen/463314" ref="tree=MeSH" title="MedGen record for Mottled pigmentation of photoexposed areas">Mottled pigmentation of photoexposed areas</a></span></li><li><span class="TLline"><a href="/medgen/342031" ref="tree=MeSH" title="MedGen record for Mottled pigmentation of the trunk and proximal extremities">Mottled pigmentation of the trunk and proximal extremities</a></span></li></ul></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_354526"><div><strong>Familial partial lipodystrophy, Dunnigan type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>354526</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.">C1720860</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial partial lipodystrophy (FPLD) is a metabolic disorder characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. Affected individuals gradually lose fat from the upper and lower extremities and the gluteal and truncal regions, resulting in a muscular appearance with prominent superficial veins. In some patients, adipose tissue accumulates on the face and neck, causing a double chin, fat neck, or cushingoid appearance. Metabolic abnormalities include insulin-resistant diabetes mellitus with acanthosis nigricans and hypertriglyceridemia; hirsutism and menstrual abnormalities occur infrequently. Familial partial lipodystrophy may also be referred to as lipoatrophic diabetes mellitus, but the essential feature is loss of subcutaneous fat (review by Garg, 2004). The disorder may be misdiagnosed as Cushing disease (see 219080) (Kobberling and Dunnigan, 1986; Garg, 2004). Genetic Heterogeneity of Familial Partial Lipodystrophy Familial partial lipodystrophy is a clinically and genetically heterogeneous disorder. Types 1 and 2 were originally described as clinical subtypes: type 1 (FPLD1; 608600), characterized by loss of subcutaneous fat confined to the limbs (Kobberling et al., 1975), and FPLD2, characterized by loss of subcutaneous fat from the limbs and trunk (Dunnigan et al., 1974; Kobberling and Dunnigan, 1986). No genetic basis for FPLD1 has yet been delineated. FPLD3 (604367) is caused by mutation in the PPARG gene (601487) on chromosome 3p25; FPLD4 (613877) is caused by mutation in the PLIN1 gene (170290) on chromosome 15q26; FPLD5 (615238) is caused by mutation in the CIDEC gene (612120) on chromosome 3p25; FPLD6 (615980) is caused by mutation in the LIPE gene (151750) on chromosome 19q13; FPLD7 (606721) is caused by mutation in the CAV1 gene (601047) on chromosome 7q31; FPLD8 (620679), caused by mutation in the ADRA2A gene (104210) on chromosome 10q25; and FPLD9 (620683), caused by mutation in the PLAAT3 gene (613867) on chromosome 11q12.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/354526">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_332940"><div><strong>Mandibuloacral dysplasia with type B lipodystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332940</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.">C1837756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mandibuloacral dysplasia with type B lipodystrophy (MADB) is a rare autosomal recessive disorder characterized by postnatal growth retardation, craniofacial anomalies such as mandibular hypoplasia, skeletal anomalies such as progressive osteolysis of the terminal phalanges and clavicles, and skin changes such as mottled hyperpigmentation and atrophy. The lipodystrophy is characterized by generalized loss of subcutaneous fat involving the face, trunk, and extremities. Some patients have a progeroid appearance. Metabolic complications associated with insulin resistance have been reported (Schrander-Stumpel et al., 1992; summary by Simha et al., 2003). For a general phenotypic description of lipodystrophy associated with mandibuloacral dysplasia, see MADA (248370).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332940">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_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_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="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_354526" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial partial lipodystrophy, Dunnigan type</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>
|
||
<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_332940" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mandibuloacral dysplasia with type B lipodystrophy</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>
|
||
</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/31856865">Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hitzert MM,
|
||
van der Crabben SN,
|
||
Baldewsingh G,
|
||
van Amstel HKP,
|
||
van den Wijngaard A,
|
||
van Ravenswaaij-Arts CMA,
|
||
Zijlmans CWR</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2019 Dec 19;14(1):294.
|
||
doi: 10.1186/s13023-019-1269-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31856865" target="_blank">31856865</a><a href="/pmc/articles/PMC6924056" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26969582">Topical Retinoids: Therapeutic Mechanisms in the Treatment of Photodamaged Skin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Riahi RR,
|
||
Bush AE,
|
||
Cohen PR</span><br />
|
||
<span class="medgenPMjournal">Am J Clin Dermatol</span>
|
||
2016 Jun;17(3):265-76.
|
||
doi: 10.1007/s40257-016-0185-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26969582" target="_blank">26969582</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11535421">Photoaging: pathogenesis, prevention, and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kang S,
|
||
Fisher GJ,
|
||
Voorhees JJ</span><br />
|
||
<span class="medgenPMjournal">Clin Geriatr Med</span>
|
||
2001 Nov;17(4):643-59, v-vi.
|
||
doi: 10.1016/s0749-0690(05)70091-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11535421" target="_blank">11535421</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22mottled%20pigmentation%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 (5)</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/33429100">Long-term improvement on photoaging after ALA photodynamic therapy for actinic keratosis: A retrospective study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang L,
|
||
Zhao Z,
|
||
Wang P,
|
||
Zhang G,
|
||
Wang B,
|
||
Shi L,
|
||
Liu X,
|
||
Zhou Z,
|
||
Wang X</span><br />
|
||
<span class="medgenPMjournal">Photodiagnosis Photodyn Ther</span>
|
||
2021 Mar;33:102181.
|
||
Epub 2021 Jan 8
|
||
doi: 10.1016/j.pdpdt.2021.102181.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33429100" target="_blank">33429100</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26969582">Topical Retinoids: Therapeutic Mechanisms in the Treatment of Photodamaged Skin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Riahi RR,
|
||
Bush AE,
|
||
Cohen PR</span><br />
|
||
<span class="medgenPMjournal">Am J Clin Dermatol</span>
|
||
2016 Jun;17(3):265-76.
|
||
doi: 10.1007/s40257-016-0185-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26969582" target="_blank">26969582</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25738849">One-year topical stabilized retinol treatment improves photodamaged skin in a double-blind, vehicle-controlled trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Randhawa M,
|
||
Rossetti D,
|
||
Leyden JJ,
|
||
Fantasia J,
|
||
Zeichner J,
|
||
Cula GO,
|
||
Southall M,
|
||
Tucker-Samaras S</span><br />
|
||
<span class="medgenPMjournal">J Drugs Dermatol</span>
|
||
2015 Mar;14(3):271-80.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25738849" target="_blank">25738849</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20055872">One novel and two recurrent mutations in the keratin 5 gene identified in Chinese patients with epidermolysis bullosa simplex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tang HY,
|
||
Du WD,
|
||
Cui Y,
|
||
Fan X,
|
||
Quan C,
|
||
Fang QY,
|
||
Zhou FS,
|
||
Yao FM,
|
||
Wang JF,
|
||
Yang S,
|
||
Zhang X</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Dermatol</span>
|
||
2009 Dec;34(8):e957-61.
|
||
doi: 10.1111/j.1365-2230.2009.03703.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20055872" target="_blank">20055872</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9028791">Human keratin diseases: hereditary fragility of specific epithelial tissues.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Corden LD,
|
||
McLean WH</span><br />
|
||
<span class="medgenPMjournal">Exp Dermatol</span>
|
||
1996 Dec;5(6):297-307.
|
||
doi: 10.1111/j.1600-0625.1996.tb00133.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9028791" target="_blank">9028791</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mottled%20pigmentation%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 (43)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33739439">Inherited skin disorders presenting with poikiloderma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rayinda T,
|
||
van Steensel M,
|
||
Danarti R</span><br />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
2021 Nov;60(11):1343-1353.
|
||
Epub 2021 Mar 19
|
||
doi: 10.1111/ijd.15498.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33739439" target="_blank">33739439</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22640275">Epidermolysis bullosa simplex with mottled pigmentation: a family report and review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Echeverría-García B,
|
||
Vicente A,
|
||
Hernández Á,
|
||
Mascaró JM,
|
||
Colmenero I,
|
||
Terrón A,
|
||
Escámez MJ,
|
||
del Río M,
|
||
González-Enseñat MA,
|
||
Torrelo A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2013 Nov-Dec;30(6):e125-31.
|
||
Epub 2012 May 29
|
||
doi: 10.1111/j.1525-1470.2012.01748.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22640275" target="_blank">22640275</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22301046">Epidermolysis bullosa simplex with mottled pigmentation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Browning JC,
|
||
Mohr B</span><br />
|
||
<span class="medgenPMjournal">Dermatol Online J</span>
|
||
2012 Jan 15;18(1):9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22301046" target="_blank">22301046</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9812039">Reticulate, patchy and mottled pigmentation of the neck. Acquired forms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lautenschlager S,
|
||
Itin PH</span><br />
|
||
<span class="medgenPMjournal">Dermatology</span>
|
||
1998;197(3):291-6.
|
||
doi: 10.1159/000018016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9812039" target="_blank">9812039</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9812038">Genodermatosis with reticulate, patchy and mottled pigmentation of the neck--a clue to rare dermatologic disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Itin PH,
|
||
Lautenschlager S</span><br />
|
||
<span class="medgenPMjournal">Dermatology</span>
|
||
1998;197(3):281-90.
|
||
doi: 10.1159/000018015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9812038" target="_blank">9812038</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mottled%20pigmentation%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 (29)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30419125">Effect of Platelet-Rich Plasma Injection for Rejuvenation of Photoaged Facial Skin: A Randomized Clinical Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alam M,
|
||
Hughart R,
|
||
Champlain A,
|
||
Geisler A,
|
||
Paghdal K,
|
||
Whiting D,
|
||
Hammel JA,
|
||
Maisel A,
|
||
Rapcan MJ,
|
||
West DP,
|
||
Poon E</span><br />
|
||
<span class="medgenPMjournal">JAMA Dermatol</span>
|
||
2018 Dec 1;154(12):1447-1452.
|
||
doi: 10.1001/jamadermatol.2018.3977.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30419125" target="_blank">30419125</a><a href="/pmc/articles/PMC6583756" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26969582">Topical Retinoids: Therapeutic Mechanisms in the Treatment of Photodamaged Skin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Riahi RR,
|
||
Bush AE,
|
||
Cohen PR</span><br />
|
||
<span class="medgenPMjournal">Am J Clin Dermatol</span>
|
||
2016 Jun;17(3):265-76.
|
||
doi: 10.1007/s40257-016-0185-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26969582" target="_blank">26969582</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25738849">One-year topical stabilized retinol treatment improves photodamaged skin in a double-blind, vehicle-controlled trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Randhawa M,
|
||
Rossetti D,
|
||
Leyden JJ,
|
||
Fantasia J,
|
||
Zeichner J,
|
||
Cula GO,
|
||
Southall M,
|
||
Tucker-Samaras S</span><br />
|
||
<span class="medgenPMjournal">J Drugs Dermatol</span>
|
||
2015 Mar;14(3):271-80.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25738849" target="_blank">25738849</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11535421">Photoaging: pathogenesis, prevention, and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kang S,
|
||
Fisher GJ,
|
||
Voorhees JJ</span><br />
|
||
<span class="medgenPMjournal">Clin Geriatr Med</span>
|
||
2001 Nov;17(4):643-59, v-vi.
|
||
doi: 10.1016/s0749-0690(05)70091-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11535421" target="_blank">11535421</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2186777">Clinical features of ageing skin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leyden JJ</span><br />
|
||
<span class="medgenPMjournal">Br J Dermatol</span>
|
||
1990 Apr;122 Suppl 35:1-3.
|
||
doi: 10.1111/j.1365-2133.1990.tb16118.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2186777" target="_blank">2186777</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mottled%20pigmentation%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 (54)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38334165">Neck and chest rejuvenation with fractional 1440 and 1927-nm low-powered diode laser.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hoffman L,
|
||
Smeallie E,
|
||
Ugonabo N,
|
||
Chapas A</span><br />
|
||
<span class="medgenPMjournal">Lasers Surg Med</span>
|
||
2024 Mar;56(3):233-238.
|
||
Epub 2024 Feb 9
|
||
doi: 10.1002/lsm.23767.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38334165" target="_blank">38334165</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33739439">Inherited skin disorders presenting with poikiloderma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rayinda T,
|
||
van Steensel M,
|
||
Danarti R</span><br />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
2021 Nov;60(11):1343-1353.
|
||
Epub 2021 Mar 19
|
||
doi: 10.1111/ijd.15498.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33739439" target="_blank">33739439</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31788828">Fractional 1,927 nm Thulium Laser Plus Photodynamic Therapy Compared and Combined for Photodamaged Décolleté Skin: A Side-by-Side Randomized Controlled Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hendel K,
|
||
Mogensen M,
|
||
Wenande E,
|
||
Dierickx C,
|
||
Haedersdal M,
|
||
Togsverd-Bo K</span><br />
|
||
<span class="medgenPMjournal">Lasers Surg Med</span>
|
||
2020 Jan;52(1):44-52.
|
||
Epub 2019 Dec 1
|
||
doi: 10.1002/lsm.23194.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31788828" target="_blank">31788828</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19764019">Mandibuloacral dysplasia type A in childhood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garavelli L,
|
||
D'Apice MR,
|
||
Rivieri F,
|
||
Bertoli M,
|
||
Wischmeijer A,
|
||
Gelmini C,
|
||
De Nigris V,
|
||
Albertini E,
|
||
Rosato S,
|
||
Virdis R,
|
||
Bacchini E,
|
||
Dal Zotto R,
|
||
Banchini G,
|
||
Iughetti L,
|
||
Bernasconi S,
|
||
Superti-Furga A,
|
||
Novelli G</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2009 Oct;149A(10):2258-64.
|
||
doi: 10.1002/ajmg.a.33005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19764019" target="_blank">19764019</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10764989">The roles of cytokines in photoaging.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kondo S</span><br />
|
||
<span class="medgenPMjournal">J Dermatol Sci</span>
|
||
2000 Mar;23 Suppl 1:S30-6.
|
||
doi: 10.1016/s0923-1811(99)00076-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10764989" target="_blank">10764989</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mottled%20pigmentation%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 (11)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36394180">Skin ageing: Clinical aspects and in vivo microscopic patterns observed with reflectance confocal microscopy and optical coherence tomography.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pezzini C,
|
||
Ciardo S,
|
||
Guida S,
|
||
Kaleci S,
|
||
Chester J,
|
||
Casari A,
|
||
Manfredini M,
|
||
Longo C,
|
||
Farnetani F,
|
||
Brugués AO,
|
||
Pellacani G</span><br />
|
||
<span class="medgenPMjournal">Exp Dermatol</span>
|
||
2023 Apr;32(4):348-358.
|
||
Epub 2022 Nov 26
|
||
doi: 10.1111/exd.14708.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36394180" target="_blank">36394180</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33429100">Long-term improvement on photoaging after ALA photodynamic therapy for actinic keratosis: A retrospective study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang L,
|
||
Zhao Z,
|
||
Wang P,
|
||
Zhang G,
|
||
Wang B,
|
||
Shi L,
|
||
Liu X,
|
||
Zhou Z,
|
||
Wang X</span><br />
|
||
<span class="medgenPMjournal">Photodiagnosis Photodyn Ther</span>
|
||
2021 Mar;33:102181.
|
||
Epub 2021 Jan 8
|
||
doi: 10.1016/j.pdpdt.2021.102181.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33429100" target="_blank">33429100</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32294278">Structural skin changes in elderly people investigated by reflectance confocal microscopy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cinotti E,
|
||
Bovi C,
|
||
Tonini G,
|
||
Labeille B,
|
||
Heusèle C,
|
||
Nizard C,
|
||
Schnebert S,
|
||
Aubailly S,
|
||
Barthélémy JC,
|
||
Cambazard F,
|
||
Cevenini G,
|
||
Tognetti L,
|
||
Cartocci A,
|
||
Rubegni P,
|
||
Perrot JL</span><br />
|
||
<span class="medgenPMjournal">J Eur Acad Dermatol Venereol</span>
|
||
2020 Nov;34(11):2652-2658.
|
||
Epub 2020 Aug 2
|
||
doi: 10.1111/jdv.16466.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32294278" target="_blank">32294278</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30419125">Effect of Platelet-Rich Plasma Injection for Rejuvenation of Photoaged Facial Skin: A Randomized Clinical Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alam M,
|
||
Hughart R,
|
||
Champlain A,
|
||
Geisler A,
|
||
Paghdal K,
|
||
Whiting D,
|
||
Hammel JA,
|
||
Maisel A,
|
||
Rapcan MJ,
|
||
West DP,
|
||
Poon E</span><br />
|
||
<span class="medgenPMjournal">JAMA Dermatol</span>
|
||
2018 Dec 1;154(12):1447-1452.
|
||
doi: 10.1001/jamadermatol.2018.3977.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30419125" target="_blank">30419125</a><a href="/pmc/articles/PMC6583756" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17472679">Late-onset Rothmund-Thomson syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kumar P,
|
||
Sharma PK,
|
||
Gautam RK,
|
||
Jain RK,
|
||
Kar HK</span><br />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
2007 May;46(5):492-3.
|
||
doi: 10.1111/j.1365-4632.2007.03248.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17472679" target="_blank">17472679</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mottled%20pigmentation%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 (34)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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