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<title>Naegeli-Syndrom</title>

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<h1 id="firstHeading" class="firstHeading mw-first-heading"><span class="mw-page-title-main">Naegeli-Syndrom</span></h1>

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<th colspan="2" style="background:#99CCFF; color:#202122; text-align:center; font-size:115%; border:2px solid #99CCFF;">Klassifikation nach <a href="ICD-10" title="ICD-10">ICD-10</a>

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<td style="min-width:8ex;">Q82.4

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<td>Ektodermale Dysplasie (anhidrotisch)

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<td><span style="display:none;">Vorlage:Infobox ICD/Wartung</span>

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<td colspan="2" style="border-top:0.2ex solid #CCCCCC; padding:.4ex 1ex .4ex 0; text-align:center; vertical-align:top;"><a rel="nofollow" class="external text" href="https://klassifikationen.bfarm.de/icd-10-who/kode-suche/htmlamtl2019/index.htm">ICD-10 online (WHO-Version 2019)</a>

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<p>Das <b>Naegeli-Syndrom</b>, auch als <b>Naegeli-Franceschetti-Jadassohn-Syndrom</b> (<b>NFJS</b>) beziehungsweise <b>NFJ-Syndrom</b> bezeichnet, ist eine sehr seltene <a href="Erbkrankheit" title="Erbkrankheit">Erbkrankheit</a>, die <a href="Autosom" title="Autosom">autosomal</a>-<a href="Dominanz_(Genetik)" title="Dominanz (Genetik)">dominant</a> vererbt wird. Es handelt sich um eine Form einer <a href="Anhidrose" title="Anhidrose">anhidrotischen</a> <a href="Bindegewebe#Retikuläres_Bindegewebe" title="Bindegewebe">retikulären</a> <a href="Dermatose" class="mw-redirect" title="Dermatose">Pigmentdermatose</a> (Hautkrankheit).<sup id="cite_ref-roche_1-0" class="reference"><a href="#cite_note-roche-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> Es wurde nach dem Dermatologen <a href="Oskar_Naegeli" title="Oskar Naegeli">Oskar Naegeli</a> benannt.

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<div class="mw-heading mw-heading2"><h2 id="Ursache">Ursache</h2></div>

<p>Das Naegeli-Syndrom wird autosomal-dominant vererbt. Betroffen davon ist das <a href="Keratin" class="mw-redirect" title="Keratin">Keratin</a>-14-Gen (KRT14)<sup id="cite_ref-2" class="reference"><a href="#cite_note-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup>, das auf <a href="Chromosom_17_(Mensch)" title="Chromosom 17 (Mensch)">Chromosom 17</a> <a href="Genlocus" title="Genlocus">Genlocus</a> q11.2-q21 liegt.<sup id="cite_ref-3" class="reference"><a href="#cite_note-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup>

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<div class="mw-heading mw-heading2"><h2 id="Prävalenz"><span id="Pr.C3.A4valenz"></span>Prävalenz</h2></div>

<p>Das Naegeli-Syndrom ist eine sehr seltene Erbkrankheit. Bisher sind in der Literatur fünf Mehrfamiliengenerationen beschrieben. Männer und Frauen sind davon gleich betroffen.

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<div class="mw-heading mw-heading2"><h2 id="Symptome_und_Beschwerden">Symptome und Beschwerden</h2></div>

<p>Alle vom Naegeli-Syndrom betroffenen Patienten haben Veränderungen der <a href="Haut" title="Haut">Haut</a>, wie beispielsweise das Fehlen von <a href="Fingerabdruck" title="Fingerabdruck">Fingerabdrücken</a> (<a href="Dermatoglyphen" class="mw-redirect" title="Dermatoglyphen">Dermatoglyphen</a>) und eine netzartige <a href="Hyperpigmentierung" title="Hyperpigmentierung">Hyperpigmentierung</a> der Haut, die mit zunehmendem Alter wieder abnimmt. Ebenso sind Veränderungen an den <a href="Schwei%C3%9Fdr%C3%BCse" title="Schweißdrüse">Schweißdrüsen</a> (<a href="Anhidrose" title="Anhidrose">Anhidrose</a>) zu beobachten, die dazu führen, dass die Patienten nur vermindert Schweiß absondern können. Dies ist das Hauptproblem für die meisten NFJS-Patienten.

</p><p>Bei vielen, aber nicht allen, Patienten werden Veränderungen am <a href="Zahnbein" class="mw-redirect" title="Zahnbein">Zahnbein</a>, Blasenbildung auf der Haut und Deformationen an den <a href="Zehe_(Fu%C3%9F)" title="Zehe (Fuß)">Zehennägeln</a> beobachtet. Die Zähne von fast allen Patienten sind von der Erkrankung betroffen und gehen meist schon in jungen Jahren vollständig verloren.<sup id="cite_ref-4" class="reference"><a href="#cite_note-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup>

</p><p>Die <a href="Symptom" title="Symptom">Symptome</a> ähneln dem <a href="Bloch-Sulzberger-Syndrom" title="Bloch-Sulzberger-Syndrom">Bloch-Sulzberger-Syndrom</a>.<sup id="cite_ref-roche_1-1" class="reference"><a href="#cite_note-roche-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup>

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<div class="mw-heading mw-heading2"><h2 id="Differentialdiagnose">Differentialdiagnose</h2></div>

<p>Abzugrenzen sind andere <a href="Allel" title="Allel">allele</a> Erkrankungen aufgrund von Mutationen am KRT14-Gen wie die <a href="Dermatopathia_pigmentosa_reticularis" title="Dermatopathia pigmentosa reticularis">Dermatopathia pigmentosa reticularis</a>, und die <a href="Epidermolysis_bullosa_simplex" title="Epidermolysis bullosa simplex">Epidermolysis bullosa simplex</a> in verschiedenen Typen.<sup id="cite_ref-5" class="reference"><a href="#cite_note-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup>

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<div class="mw-heading mw-heading2"><h2 id="Therapie">Therapie</h2></div>

<p>Es ist keine ursächliche Behandlung bekannt. Die Therapie erfolgt symptomatisch.

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<div class="mw-heading mw-heading2"><h2 id="Namensgebung">Namensgebung</h2></div>

<p>Die Krankheit ist nach dem Schweizer <a href="Dermatologie" title="Dermatologie">Dermatologen</a> <a href="Oskar_Naegeli" title="Oskar Naegeli">Oskar Naegeli</a> (1885–1959) benannt, der sie 1927 erstmals bei einer Schweizer Familie beschrieb, in der der Vater und zwei seiner Töchter betroffen waren.<sup id="cite_ref-6" class="reference"><a href="#cite_note-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-7" class="reference"><a href="#cite_note-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup>

</p><p>In einer zweiten 1954 durchgeführten Studie über diese Familie konnten Adolphe Franceschetti (1896–1968)<sup id="cite_ref-8" class="reference"><a href="#cite_note-8"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup> und <a href="Werner_Jadassohn" title="Werner Jadassohn">Werner Jadassohn</a> (1897–1973) den <a href="Autosomal-dominanter_Erbgang" class="mw-redirect" title="Autosomal-dominanter Erbgang">autosomal-dominanten Erbgang</a> der Krankheit klären und sie vom <a href="Bloch-Sulzberger-Syndrom" title="Bloch-Sulzberger-Syndrom">Bloch-Sulzberger-Syndrom</a> (<i>Incontinentia pigmenti</i>) abgrenzen.<sup id="cite_ref-9" class="reference"><a href="#cite_note-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup>

</p><p>65 Jahre nach der Entdeckung Naegelis wurde die Familie erneut untersucht. Von den nun 62 Mitgliedern der Familienstammbaums waren 14 Personen vom Naegeli-Syndrom betroffen.<sup id="cite_ref-10" class="reference"><a href="#cite_note-10"><span class="cite-bracket">[</span>10<span class="cite-bracket">]</span></a></sup>

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<div class="mw-heading mw-heading2"><h2 id="Literatur">Literatur</h2></div>

<ul><li>Jennie Lugassy et al.: <cite style="font-style:italic">Naegeli-Franceschetti-Jadassohn Syndrome and Dermatopathia Pigmentosa Reticularis: Two Allelic Ectodermal Dysplasias Caused by Dominant Mutations in KRT14</cite>. In: <cite style="font-style:italic">The American Journal of Human Genetics</cite>. <span style="white-space:nowrap">Band<span style="display:inline-block;width:.2em"> </span>79</span>, <span style="white-space:nowrap">Nr.<span style="display:inline-block;width:.2em"> </span>4</span>, 2006, <span style="white-space:nowrap">S.<span style="display:inline-block;width:.2em"> </span>724–730</span>, <a href="Digital_Object_Identifier" title="Digital Object Identifier">doi</a>:<span class="uri-handle" style="white-space:nowrap"><a rel="nofollow" class="external text" href="https://doi.org/10.1086/507792">10.1086/507792</a></span>, <a class="external mw-magiclink-pmid" rel="nofollow" href="https://www.ncbi.nlm.nih.gov/pubmed/16960809?dopt=Abstract">PMID 16960809</a>, <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1592572/">PMC 1592572</a> (freier Volltext).<span class="Z3988" title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rfr_id=info:sid/de.wikipedia.org:Naegeli-Syndrom&rft.atitle=Naegeli-Franceschetti-Jadassohn+Syndrome+and+Dermatopathia+Pigmentosa+Reticularis%3A+Two+Allelic+Ectodermal+Dysplasias+Caused+by+Dominant+Mutations+in+KRT14&rft.au=Jennie+Lugassy+et+al.&rft.date=2006&rft.doi=10.1086%2F507792&rft.genre=journal&rft.issue=4&rft.jtitle=The+American+Journal+of+Human+Genetics&rft.pages=724-730&rft.pmc=1592572&rft.pmid=16960809&rft.volume=79" style="display:none"> </span></li>

<li>Jennie Lugassy et al.: <cite style="font-style:italic">KRT14 Haploinsufficiency Results in Increased Susceptibility of Keratinocytes to TNF-α-Induced Apoptosis and Causes Naegeli–Franceschetti–Jadassohn Syndrome</cite>. In: <cite style="font-style:italic">Journal of Investigative Dermatology</cite>. <span style="white-space:nowrap">Band<span style="display:inline-block;width:.2em"> </span>128</span>, <span style="white-space:nowrap">Nr.<span style="display:inline-block;width:.2em"> </span>6</span>, 2007, <span style="white-space:nowrap">S.<span style="display:inline-block;width:.2em"> </span>1517–1524</span>, <a href="Digital_Object_Identifier" title="Digital Object Identifier">doi</a>:<span class="uri-handle" style="white-space:nowrap"><a rel="nofollow" class="external text" href="https://doi.org/10.1038/sj.jid.5701187">10.1038/sj.jid.5701187</a></span>, <a class="external mw-magiclink-pmid" rel="nofollow" href="https://www.ncbi.nlm.nih.gov/pubmed/18049449?dopt=Abstract">PMID 18049449</a>.<span class="Z3988" title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rfr_id=info:sid/de.wikipedia.org:Naegeli-Syndrom&rft.atitle=KRT14+Haploinsufficiency+Results+in+Increased+Susceptibility+of+Keratinocytes+to+TNF-%CE%B1-Induced+Apoptosis+and+Causes+Naegeli-Franceschetti-Jadassohn+Syndrome&rft.au=Jennie+Lugassy+et+al.&rft.date=2007&rft.doi=10.1038%2Fsj.jid.5701187&rft.genre=journal&rft.issue=6&rft.jtitle=Journal+of+Investigative+Dermatology&rft.pages=1517-1524&rft.pmid=18049449&rft.volume=128" style="display:none"> </span></li>

<li>Eli Sprecher et al.: <cite style="font-style:italic">Refined Mapping of Naegeli–Franceschetti–Jadassohn Syndrome to a 6 cM Interval on Chromosome 17q11.2-q21 and Investigation of Candidate Genes</cite>. In: <cite style="font-style:italic">Journal of Investigative Dermatology</cite>. <span style="white-space:nowrap">Band<span style="display:inline-block;width:.2em"> </span>119</span>, <span style="white-space:nowrap">Nr.<span style="display:inline-block;width:.2em"> </span>3</span>, 2002, <span style="white-space:nowrap">S.<span style="display:inline-block;width:.2em"> </span>692–698</span>, <a href="Digital_Object_Identifier" title="Digital Object Identifier">doi</a>:<span class="uri-handle" style="white-space:nowrap"><a rel="nofollow" class="external text" href="https://doi.org/10.1046/j.1523-1747.2002.01855.x">10.1046/j.1523-1747.2002.01855.x</a></span>, <a class="external mw-magiclink-pmid" rel="nofollow" href="https://www.ncbi.nlm.nih.gov/pubmed/12230514?dopt=Abstract">PMID 12230514</a>.<span class="Z3988" title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rfr_id=info:sid/de.wikipedia.org:Naegeli-Syndrom&rft.atitle=Refined+Mapping+of+Naegeli-Franceschetti-Jadassohn+Syndrome+to+a+6+cM+Interval+on+Chromosome+17q11.2-q21+and+Investigation+of+Candidate+Genes&rft.au=Eli+Sprecher+et+al.&rft.date=2002&rft.doi=10.1046%2Fj.1523-1747.2002.01855.x&rft.genre=journal&rft.issue=3&rft.jtitle=Journal+of+Investigative+Dermatology&rft.pages=692-698&rft.pmid=12230514&rft.volume=119" style="display:none"> </span></li>

<li>Christofcr Tzermias, Aikaterini Zioga, I. Hatzis: <cite style="font-style:italic">Reticular pigmented genodermatosis with milia-a special form of Naegeli-Franceschetti-Jadassohn syndrome or a new entity?</cite> In: <cite style="font-style:italic">Clinical and Experimental Dermatology</cite>. <span style="white-space:nowrap">Band<span style="display:inline-block;width:.2em"> </span>20</span>, <span style="white-space:nowrap">Nr.<span style="display:inline-block;width:.2em"> </span>4</span>, 1995, <span style="white-space:nowrap">S.<span style="display:inline-block;width:.2em"> </span>331–335</span>, <a href="Digital_Object_Identifier" title="Digital Object Identifier">doi</a>:<span class="uri-handle" style="white-space:nowrap"><a rel="nofollow" class="external text" href="https://doi.org/10.1111/j.1365-2230.1995.tb01336.x">10.1111/j.1365-2230.1995.tb01336.x</a></span>, <a class="external mw-magiclink-pmid" rel="nofollow" href="https://www.ncbi.nlm.nih.gov/pubmed/8548993?dopt=Abstract">PMID 8548993</a>.<span class="Z3988" title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rfr_id=info:sid/de.wikipedia.org:Naegeli-Syndrom&rft.atitle=Reticular+pigmented+genodermatosis+with+milia-a+special+form+of+Naegeli-Franceschetti-Jadassohn+syndrome+or+a+new+entity%3F&rft.au=Christofcr+Tzermias%2C+Aikaterini+Zioga%2C+I.+Hatzis&rft.date=1995&rft.doi=10.1111%2Fj.1365-2230.1995.tb01336.x&rft.genre=journal&rft.issue=4&rft.jtitle=Clinical+and+Experimental+Dermatology&rft.pages=331-335&rft.pmid=8548993&rft.volume=20" style="display:none"> </span></li>

<li>Yoshiko Kudo et al.: <cite style="font-style:italic">Reticulate pigmentary dermatosis associated with hypohydrosis and short stature: a variant of Naegeli-Franceschetti-Jadassohn syndrome?</cite> In: <cite style="font-style:italic">International Journal of Dermatology</cite>. <span style="white-space:nowrap">Band<span style="display:inline-block;width:.2em"> </span>34</span>, <span style="white-space:nowrap">Nr.<span style="display:inline-block;width:.2em"> </span>1</span>, 1995, <span style="white-space:nowrap">S.<span style="display:inline-block;width:.2em"> </span>30–31</span>, <a href="Digital_Object_Identifier" title="Digital Object Identifier">doi</a>:<span class="uri-handle" style="white-space:nowrap"><a rel="nofollow" class="external text" href="https://doi.org/10.1111/j.1365-4362.1995.tb04373.x">10.1111/j.1365-4362.1995.tb04373.x</a></span>, <a class="external mw-magiclink-pmid" rel="nofollow" href="https://www.ncbi.nlm.nih.gov/pubmed/7896482?dopt=Abstract">PMID 7896482</a>.<span class="Z3988" title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rfr_id=info:sid/de.wikipedia.org:Naegeli-Syndrom&rft.atitle=Reticulate+pigmentary+dermatosis+associated+with+hypohydrosis+and+short+stature%3A+a+variant+of+Naegeli-Franceschetti-Jadassohn+syndrome%3F&rft.au=Yoshiko+Kudo+et+al.&rft.date=1995&rft.doi=10.1111%2Fj.1365-4362.1995.tb04373.x&rft.genre=journal&rft.issue=1&rft.jtitle=International+Journal+of+Dermatology&rft.pages=30-31&rft.pmid=7896482&rft.volume=34" style="display:none"> </span></li>

<li>Manuela Papini: <cite style="font-style:italic">Natural history of the Naegeli-Franceschetti-Jadassohn syndrome</cite>. In: <cite style="font-style:italic">Journal of the American Academy of Dermatology</cite>. <span style="white-space:nowrap">Band<span style="display:inline-block;width:.2em"> </span>31</span>, <span style="white-space:nowrap">Nr.<span style="display:inline-block;width:.2em"> </span>5</span>, 1994, <span style="white-space:nowrap">S.<span style="display:inline-block;width:.2em"> </span>830–830</span>, <a href="Digital_Object_Identifier" title="Digital Object Identifier">doi</a>:<span class="uri-handle" style="white-space:nowrap"><a rel="nofollow" class="external text" href="https://doi.org/10.1016/s0190-9622%2809%2980068-6">10.1016/s0190-9622(09)80068-6</a></span>, <a class="external mw-magiclink-pmid" rel="nofollow" href="https://www.ncbi.nlm.nih.gov/pubmed/7929942?dopt=Abstract">PMID 7929942</a>.<span class="Z3988" title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rfr_id=info:sid/de.wikipedia.org:Naegeli-Syndrom&rft.atitle=Natural+history+of+the+Naegeli-Franceschetti-Jadassohn+syndrome&rft.au=Manuela+Papini&rft.date=1994&rft.doi=10.1016%2Fs0190-9622%2809%2980068-6&rft.genre=journal&rft.issue=5&rft.jtitle=Journal+of+the+American+Academy+of+Dermatology&rft.pages=830-830&rft.pmid=7929942&rft.volume=31" style="display:none"> </span></li>

<li>G.P. Sparrow, P.D. Samman, R S Wells: <cite style="font-style:italic">Hyperpigmentation and hypohidrosis. (The Naegeli-Franceschetti-Jadassohn syndrome): report of a family and review of the literature</cite>. In: <cite style="font-style:italic">Clinical and Experimental Dermatology</cite>. <span style="white-space:nowrap">Band<span style="display:inline-block;width:.2em"> </span>1</span>, <span style="white-space:nowrap">Nr.<span style="display:inline-block;width:.2em"> </span>2</span>, 1976, <span style="white-space:nowrap">S.<span style="display:inline-block;width:.2em"> </span>127–140</span>, <a href="Digital_Object_Identifier" title="Digital Object Identifier">doi</a>:<span class="uri-handle" style="white-space:nowrap"><a rel="nofollow" class="external text" href="https://doi.org/10.1111/j.1365-2230.1976.tb01408.x">10.1111/j.1365-2230.1976.tb01408.x</a></span>, <a class="external mw-magiclink-pmid" rel="nofollow" href="https://www.ncbi.nlm.nih.gov/pubmed/939040?dopt=Abstract">PMID 939040</a>.<span class="Z3988" title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rfr_id=info:sid/de.wikipedia.org:Naegeli-Syndrom&rft.atitle=Hyperpigmentation+and+hypohidrosis.+%28The+Naegeli-Franceschetti-Jadassohn+syndrome%29%3A+report+of+a+family+and+review+of+the+literature&rft.au=G.P.+Sparrow%2C+P.D.+Samman%2C+R+S+Wells&rft.date=1976&rft.doi=10.1111%2Fj.1365-2230.1976.tb01408.x&rft.genre=journal&rft.issue=2&rft.jtitle=Clinical+and+Experimental+Dermatology&rft.pages=127-140&rft.pmid=939040&rft.volume=1" style="display:none"> </span></li></ul>

<div class="mw-heading mw-heading2"><h2 id="Weblinks">Weblinks</h2></div>

<ul><li><a rel="nofollow" class="external text" href="https://omim.org/entry/161000"><i>Naegeli-Syndrom.</i></a> In: <i><span lang="en"><a href="Online_Mendelian_Inheritance_in_Man" title="Online Mendelian Inheritance in Man">Online Mendelian Inheritance in Man</a></span>.</i> (englisch)<span class="editoronly" style="display:none;"></span></li></ul>

<div class="mw-heading mw-heading2"><h2 id="Einzelnachweise">Einzelnachweise</h2></div>

<li id="cite_note-roche-1"><span class="mw-cite-backlink">↑ <sup><a href="#cite_ref-roche_1-0">a</a></sup> <sup><a href="#cite_ref-roche_1-1">b</a></sup></span> <span class="reference-text">Roche Lexikon Medizin, 5. Auflage.</span>

</li>

<li id="cite_note-2"><span class="mw-cite-backlink"><a href="#cite_ref-2">↑</a></span> <span class="reference-text"><a rel="nofollow" class="external text" href="https://omim.org/entry/148066"><i>Keratin 14.</i></a> In: <i><span lang="en"><a href="Online_Mendelian_Inheritance_in_Man" title="Online Mendelian Inheritance in Man">Online Mendelian Inheritance in Man</a></span>.</i> (englisch)<span class="editoronly" style="display:none;"></span>.</span>

</li>

<li id="cite_note-3"><span class="mw-cite-backlink"><a href="#cite_ref-3">↑</a></span> <span class="reference-text">Neil V. Whittock et al.: <cite style="font-style:italic">The Gene for Naegeli–Franceschetti–Jadassohn Syndrome Maps to 17q21</cite>. In: <cite style="font-style:italic">Journal of Investigative Dermatology</cite>. <span style="white-space:nowrap">Band<span style="display:inline-block;width:.2em"> </span>115</span>, <span style="white-space:nowrap">Nr.<span style="display:inline-block;width:.2em"> </span>4</span>, 2000, <span style="white-space:nowrap">S.<span style="display:inline-block;width:.2em"> </span>694–698</span>, <a href="Digital_Object_Identifier" title="Digital Object Identifier">doi</a>:<span class="uri-handle" style="white-space:nowrap"><a rel="nofollow" class="external text" href="https://doi.org/10.1046/j.1523-1747.2000.00097.x">10.1046/j.1523-1747.2000.00097.x</a></span>, <a class="external mw-magiclink-pmid" rel="nofollow" href="https://www.ncbi.nlm.nih.gov/pubmed/10998145?dopt=Abstract">PMID 10998145</a>.<span class="Z3988" title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rfr_id=info:sid/de.wikipedia.org:Naegeli-Syndrom&rft.atitle=The+Gene+for+Naegeli-Franceschetti-Jadassohn+Syndrome+Maps+to+17q21&rft.au=Neil+V.+Whittock+et+al.&rft.date=2000&rft.doi=10.1046%2Fj.1523-1747.2000.00097.x&rft.genre=journal&rft.issue=4&rft.jtitle=Journal+of+Investigative+Dermatology&rft.pages=694-698&rft.pmid=10998145&rft.volume=115" style="display:none"> </span></span>

</li>

<li id="cite_note-4"><span class="mw-cite-backlink"><a href="#cite_ref-4">↑</a></span> <span class="reference-text">Eintrag zu <a rel="nofollow" class="external text" href="https://www.orpha.net/de/disease/detail/69087"><i>Naegeli-Franceschetti-Jadassohn-Syndrom.</i></a> In: <i><a href="Orphanet" title="Orphanet">Orphanet</a></i> (Datenbank für seltene Krankheiten), abgerufen am 3. Juni 2008.<span class="editoronly" style="display:none;"></span></span>

</li>

</li>

<li id="cite_note-6"><span class="mw-cite-backlink"><a href="#cite_ref-6">↑</a></span> <span class="reference-text">B. Naegeli: <i>Familiärer Chromatophorennavus.</i> In: <i>Schweiz. Med. Wschr.</i> 8/1927, S. 48.</span>

</li>

<li id="cite_note-7"><span class="mw-cite-backlink"><a href="#cite_ref-7">↑</a></span> <span class="reference-text">Ole Daniel Enersen: <style data-mw-deduplicate="TemplateStyles:r261891140">

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</style><a rel="nofollow" class="external text" href="https://web.archive.org/web/20250614210622/http://www.whonamedit.com/doctor.cfm/984.html">Oskar Naegeli</a> (<span class="webarchiv-memento"><a href="Webarchivierung#Begrifflichkeiten" title="Webarchivierung">Memento</a></span> vom 14. Juni 2025 im <i><a href="Internet_Archive" title="Internet Archive">Internet Archive</a></i>) bei whonamedit.com</span>

</li>

<li id="cite_note-8"><span class="mw-cite-backlink"><a href="#cite_ref-8">↑</a></span> <span class="reference-text">Ole Daniel Enersen: <a rel="nofollow" class="external text" href="https://web.archive.org/web/20250614205408/http://www.whonamedit.com/doctor.cfm/1391.html">Adolphe Franceschetti</a> (<span class="webarchiv-memento"><a href="Webarchivierung#Begrifflichkeiten" title="Webarchivierung">Memento</a></span> vom 14. Juni 2025 im <i><a href="Internet_Archive" title="Internet Archive">Internet Archive</a></i>) bei whonamedit.com</span>

</li>

<li id="cite_note-9"><span class="mw-cite-backlink"><a href="#cite_ref-9">↑</a></span> <span class="reference-text">A. Franceschetti, W. Jadassohn: <i>A propos de «l’incontinentia pigmenti,» délimitation de deux syndromes différents figurant sous le même terme.</i> In: <i><a href="Dermatologica" class="mw-redirect" title="Dermatologica">Dermatologica</a></i> 108/1954, S. 1–28.</span>

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<li id="cite_note-10"><span class="mw-cite-backlink"><a href="#cite_ref-10">↑</a></span> <span class="reference-text">Peter Itin et al.: <cite style="font-style:italic">Natural history of the Naegeli-Franceschetti-Jadassohn syndrome and further delineation of its clinical manifestations</cite>. In: <cite style="font-style:italic">Journal of the American Academy of Dermatology</cite>. <span style="white-space:nowrap">Band<span style="display:inline-block;width:.2em"> </span>28</span>, <span style="white-space:nowrap">Nr.<span style="display:inline-block;width:.2em"> </span>6</span>, 1993, <span style="white-space:nowrap">S.<span style="display:inline-block;width:.2em"> </span>942–950</span>, <a href="Digital_Object_Identifier" title="Digital Object Identifier">doi</a>:<span class="uri-handle" style="white-space:nowrap"><a rel="nofollow" class="external text" href="https://doi.org/10.1016/0190-9622%2893%2970135-g">10.1016/0190-9622(93)70135-g</a></span>, <a class="external mw-magiclink-pmid" rel="nofollow" href="https://www.ncbi.nlm.nih.gov/pubmed/8496458?dopt=Abstract">PMID 8496458</a>.<span class="Z3988" title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rfr_id=info:sid/de.wikipedia.org:Naegeli-Syndrom&rft.atitle=Natural+history+of+the+Naegeli-Franceschetti-Jadassohn+syndrome+and+further+delineation+of+its+clinical+manifestations&rft.au=Peter+Itin+et+al.&rft.date=1993&rft.doi=10.1016%2F0190-9622%2893%2970135-g&rft.genre=journal&rft.issue=6&rft.jtitle=Journal+of+the+American+Academy+of+Dermatology&rft.pages=942-950&rft.pmid=8496458&rft.volume=28" style="display:none"> </span></span>

</li>

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