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free encyclopedia</div> </div> <div id="contentSub"><div id="mw-content-subtitle"><span class="mw-redirectedfrom">(Redirected from <a href="/w/index.php?title=Ichthyosis_follicularis&redirect=no" class="mw-redirect" title="Ichthyosis follicularis">Ichthyosis follicularis</a>)</span></div></div> <div id="mw-content-text" class="mw-body-content"><div class="mw-content-ltr mw-parser-output" lang="en" dir="ltr"><div class="shortdescription nomobile noexcerpt noprint searchaux" style="display:none">Medical condition</div><style data-mw-deduplicate="TemplateStyles:r1257001546">.mw-parser-output .infobox-subbox{padding:0;border:none;margin:-3px;width:auto;min-width:100%;font-size:100%;clear:none;float:none;background-color:transparent}.mw-parser-output .infobox-3cols-child{margin:auto}.mw-parser-output .infobox .navbar{font-size:100%}@media screen{html.skin-theme-clientpref-night .mw-parser-output .infobox-full-data:not(.notheme)>div:not(.notheme)[style]{background:#1f1f23!important;color:#f8f9fa}}@media screen and (prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .infobox-full-data:not(.notheme) div:not(.notheme){background:#1f1f23!important;color:#f8f9fa}}@media(min-width:640px){body.skin--responsive .mw-parser-output .infobox-table{display:table!important}body.skin--responsive .mw-parser-output .infobox-table>caption{display:table-caption!important}body.skin--responsive .mw-parser-output .infobox-table>tbody{display:table-row-group}body.skin--responsive .mw-parser-output .infobox-table tr{display:table-row!important}body.skin--responsive .mw-parser-output .infobox-table th,body.skin--responsive .mw-parser-output .infobox-table td{padding-left:inherit;padding-right:inherit}}</style><table class="infobox ib-medical-condition"><tbody><tr><th colspan="2" class="infobox-above" style="background:#ccc">IFAP syndrome</th></tr><tr style="background-color: #f8f9fa;"><td colspan="2" class="infobox-full-data"><span class="mw-default-size" typeof="mw:File/Frameless"><a href="/wiki/File:X-linked_recessive.svg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/c/c7/X-linked_recessive.svg/220px-X-linked_recessive.svg.png" decoding="async" width="220" height="334" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/c/c7/X-linked_recessive.svg/330px-X-linked_recessive.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/c/c7/X-linked_recessive.svg/440px-X-linked_recessive.svg.png 2x" data-file-width="600" data-file-height="911" /></a></span></td></tr><tr><td colspan="2" class="infobox-full-data">Ichthyosis follicularis with alopecia and photophobia syndrome is inherited via X-linked recessive manner(though other forms of inheritance have occurred)<sup id="cite_ref-OMIM_1-0" class="reference"><a href="#cite_note-OMIM-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup></td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Medical_specialty" title="Medical specialty">Specialty</a></th><td class="infobox-data"><a href="/wiki/Medical_genetics" title="Medical genetics">Medical genetics</a> <span class="penicon autoconfirmed-show"><span class="mw-valign-text-top" typeof="mw:File/Frameless"><a href="https://www.wikidata.org/wiki/Q5986440?uselang=en#P1995" title="Edit this on Wikidata"><img alt="Edit this on Wikidata" src="//upload.wikimedia.org/wikipedia/en/thumb/8/8a/OOjs_UI_icon_edit-ltr-progressive.svg/10px-OOjs_UI_icon_edit-ltr-progressive.svg.png" decoding="async" width="10" height="10" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/en/thumb/8/8a/OOjs_UI_icon_edit-ltr-progressive.svg/15px-OOjs_UI_icon_edit-ltr-progressive.svg.png 1.5x, //upload.wikimedia.org/wikipedia/en/thumb/8/8a/OOjs_UI_icon_edit-ltr-progressive.svg/20px-OOjs_UI_icon_edit-ltr-progressive.svg.png 2x" data-file-width="20" data-file-height="20" /></a></span></span></td></tr></tbody></table> <p><b>Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome</b> is an extremely rare genetic syndrome caused by mutations in the <i><a href="/wiki/MBTPS2" class="mw-redirect" title="MBTPS2">MBTPS2</a></i> gene. <sup id="cite_ref-Andrews_2-0" class="reference"><a href="#cite_note-Andrews-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup><sup class="reference nowrap"><span title="Page / location: 564">: 564 </span></sup> It is extremely rare: there were only 40 known cases (all male) until 2011.<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> </p> <meta property="mw:PageProp/toc" /> <div class="mw-heading mw-heading2"><h2 id="Symptoms_and_signs">Symptoms and signs</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Ichthyosis_follicularis_with_alopecia_and_photophobia_syndrome&action=edit&section=1" title="Edit section: Symptoms and signs"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The main symptoms are given by its name: dry, scaly skin (<a href="/wiki/Ichthyosis" title="Ichthyosis">ichthyosis</a>), absence of hair (atrichia) and excessive sensitivity to light (<a href="/wiki/Photophobia" title="Photophobia">photophobia</a>). Additional features include short stature, mental retardation, seizures and a tendency for respiratory infections.<sup id="cite_ref-omim_4-0" class="reference"><a href="#cite_note-omim-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Genetics">Genetics</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Ichthyosis_follicularis_with_alopecia_and_photophobia_syndrome&action=edit&section=2" title="Edit section: Genetics"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Most cases are <a href="/wiki/X-linked_recessive" class="mw-redirect" title="X-linked recessive">X-linked recessive</a> but there may be as many as three types. As well as a classical X-linked form, there is another type where females are partially affected and another where females have full IFAP symptoms. It is caused by mutations in the <i><a href="/wiki/MBTPS2" class="mw-redirect" title="MBTPS2">MBTPS2</a></i> gene.<sup id="cite_ref-OMIM_1-1" class="reference"><a href="#cite_note-OMIM-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Diagnosis">Diagnosis</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Ichthyosis_follicularis_with_alopecia_and_photophobia_syndrome&action=edit&section=3" title="Edit section: Diagnosis"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Diagnosis is based on appearance and family history. <a href="/wiki/KID_syndrome" class="mw-redirect" title="KID syndrome">KID syndrome</a> or <a href="/wiki/Keratosis_follicularis_spinulosa_decalvans" title="Keratosis follicularis spinulosa decalvans">keratosis follicularis spinulosa decalvans</a> have some similar symptoms and must be eliminated.<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> </p> <div class="mw-heading mw-heading2"><h2 id="See_also">See also</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Ichthyosis_follicularis_with_alopecia_and_photophobia_syndrome&action=edit&section=4" title="Edit section: See also"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li><a href="/wiki/Cicatricial_alopecia" class="mw-redirect" title="Cicatricial alopecia">Cicatricial alopecia</a></li> <li><a href="/wiki/List_of_cutaneous_conditions" class="mw-redirect" title="List of cutaneous conditions">List of cutaneous conditions</a></li></ul> <div class="mw-heading mw-heading2"><h2 id="References">References</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Ichthyosis_follicularis_with_alopecia_and_photophobia_syndrome&action=edit&section=5" title="Edit section: References"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <style data-mw-deduplicate="TemplateStyles:r1239543626">.mw-parser-output .reflist{margin-bottom:0.5em;list-style-type:decimal}@media screen{.mw-parser-output .reflist{font-size:90%}}.mw-parser-output .reflist .references{font-size:100%;margin-bottom:0;list-style-type:inherit}.mw-parser-output .reflist-columns-2{column-width:30em}.mw-parser-output .reflist-columns-3{column-width:25em}.mw-parser-output .reflist-columns{margin-top:0.3em}.mw-parser-output .reflist-columns ol{margin-top:0}.mw-parser-output .reflist-columns li{page-break-inside:avoid;break-inside:avoid-column}.mw-parser-output .reflist-upper-alpha{list-style-type:upper-alpha}.mw-parser-output .reflist-upper-roman{list-style-type:upper-roman}.mw-parser-output .reflist-lower-alpha{list-style-type:lower-alpha}.mw-parser-output .reflist-lower-greek{list-style-type:lower-greek}.mw-parser-output .reflist-lower-roman{list-style-type:lower-roman}</style><div class="reflist"> <div class="mw-references-wrap"><ol class="references"> <li id="cite_note-OMIM-1"><span class="mw-cite-backlink">^ <a href="#cite_ref-OMIM_1-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-OMIM_1-1"><sup><i><b>b</b></i></sup></a></span> <span class="reference-text"><style data-mw-deduplicate="TemplateStyles:r1238218222">.mw-parser-output cite.citation{font-style:inherit;word-wrap:break-word}.mw-parser-output .citation q{quotes:"\"""\"""'""'"}.mw-parser-output .citation:target{background-color:rgba(0,127,255,0.133)}.mw-parser-output .id-lock-free.id-lock-free a{background:url("//upload.wikimedia.org/wikipedia/commons/6/65/Lock-green.svg")right 0.1em center/9px no-repeat}.mw-parser-output .id-lock-limited.id-lock-limited a,.mw-parser-output .id-lock-registration.id-lock-registration a{background:url("//upload.wikimedia.org/wikipedia/commons/d/d6/Lock-gray-alt-2.svg")right 0.1em center/9px no-repeat}.mw-parser-output .id-lock-subscription.id-lock-subscription a{background:url("//upload.wikimedia.org/wikipedia/commons/a/aa/Lock-red-alt-2.svg")right 0.1em center/9px no-repeat}.mw-parser-output .cs1-ws-icon a{background:url("//upload.wikimedia.org/wikipedia/commons/4/4c/Wikisource-logo.svg")right 0.1em center/12px no-repeat}body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-free a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-limited a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-registration a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-subscription a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .cs1-ws-icon a{background-size:contain;padding:0 1em 0 0}.mw-parser-output .cs1-code{color:inherit;background:inherit;border:none;padding:inherit}.mw-parser-output .cs1-hidden-error{display:none;color:var(--color-error,#d33)}.mw-parser-output .cs1-visible-error{color:var(--color-error,#d33)}.mw-parser-output .cs1-maint{display:none;color:#085;margin-left:0.3em}.mw-parser-output .cs1-kern-left{padding-left:0.2em}.mw-parser-output .cs1-kern-right{padding-right:0.2em}.mw-parser-output .citation .mw-selflink{font-weight:inherit}@media screen{.mw-parser-output .cs1-format{font-size:95%}html.skin-theme-clientpref-night .mw-parser-output .cs1-maint{color:#18911f}}@media screen and (prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .cs1-maint{color:#18911f}}</style><cite class="citation web cs1"><a rel="nofollow" class="external text" href="https://omim.org/entry/308205">"OMIM Entry - # 308205 - IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME"</a>. <i>omim.org</i><span class="reference-accessdate">. Retrieved <span class="nowrap">21 July</span> 2017</span>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=unknown&rft.jtitle=omim.org&rft.atitle=OMIM+Entry+-+%23+308205+-+IFAP+SYNDROME+WITH+OR+WITHOUT+BRESHECK+SYNDROME&rft_id=https%3A%2F%2Fomim.org%2Fentry%2F308205&rfr_id=info%3Asid%2Fen.wikipedia.org%3AIchthyosis+follicularis+with+alopecia+and+photophobia+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-Andrews-2"><span class="mw-cite-backlink"><b><a href="#cite_ref-Andrews_2-0">^</a></b></span> <span class="reference-text">James, William; Berger, Timothy; Elston, Dirk (2005). <i>Andrews' Diseases of the Skin: Clinical Dermatology</i>. (10th ed.). Saunders. <link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><a href="/wiki/ISBN_(identifier)" class="mw-redirect" title="ISBN (identifier)">ISBN</a> <a href="/wiki/Special:BookSources/0-7216-2921-0" title="Special:BookSources/0-7216-2921-0">0-7216-2921-0</a>.</span> </li> <li id="cite_note-3"><span class="mw-cite-backlink"><b><a href="#cite_ref-3">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFMégarbanéMégarbané2011" class="citation journal cs1">Mégarbané, Hala; Mégarbané, André (2011-05-21). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3127745">"Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome"</a>. <i>Orphanet Journal of Rare Diseases</i>. <b>6</b>: 29. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://doi.org/10.1186%2F1750-1172-6-29">10.1186/1750-1172-6-29</a></span>. <a href="/wiki/ISSN_(identifier)" class="mw-redirect" title="ISSN (identifier)">ISSN</a> <a rel="nofollow" class="external text" href="https://search.worldcat.org/issn/1750-1172">1750-1172</a>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3127745">3127745</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/21600032">21600032</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Orphanet+Journal+of+Rare+Diseases&rft.atitle=Ichthyosis+follicularis%2C+alopecia%2C+and+photophobia+%28IFAP%29+syndrome&rft.volume=6&rft.pages=29&rft.date=2011-05-21&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC3127745%23id-name%3DPMC&rft.issn=1750-1172&rft_id=info%3Apmid%2F21600032&rft_id=info%3Adoi%2F10.1186%2F1750-1172-6-29&rft.aulast=M%C3%A9garban%C3%A9&rft.aufirst=Hala&rft.au=M%C3%A9garban%C3%A9%2C+Andr%C3%A9&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC3127745&rfr_id=info%3Asid%2Fen.wikipedia.org%3AIchthyosis+follicularis+with+alopecia+and+photophobia+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-omim-4"><span class="mw-cite-backlink"><b><a href="#cite_ref-omim_4-0">^</a></b></span> <span class="reference-text">OMIM (Online Mendelian Inheritance in Man), Johns Hopkins University, <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308205">Ichthyosis follicularis, atrichia and photophobia</a></span> </li> <li id="cite_note-5"><span class="mw-cite-backlink"><b><a href="#cite_ref-5">^</a></b></span> <span class="reference-text">Boente M del, Bibas-Bonet H, Coronel AM, Asial RA; <a rel="nofollow" class="external text" href="http://www.john-libbey-eurotext.fr/en/revues/medecine/ejd/e-docs/00/01/89/8B/article.phtml">Atrichia, ichthyosis, follicular hyperkeratosis, chronic candidiasis, keratitis, seizures, mental retardation and inguinal hernia: a severe manifestation of IFAP syndrome?</a>, European Journal of Dermatology. Volume 10, Number 2, 98-102, March 2000</span> </li> </ol></div></div> <div class="navbox-styles"><style data-mw-deduplicate="TemplateStyles:r1236075235">.mw-parser-output .navbox{box-sizing:border-box;border:1px solid #a2a9b1;width:100%;clear:both;font-size:88%;text-align:center;padding:1px;margin:1em auto 0}.mw-parser-output .navbox .navbox{margin-top:0}.mw-parser-output .navbox+.navbox,.mw-parser-output .navbox+.navbox-styles+.navbox{margin-top:-1px}.mw-parser-output .navbox-inner,.mw-parser-output .navbox-subgroup{width:100%}.mw-parser-output .navbox-group,.mw-parser-output .navbox-title,.mw-parser-output .navbox-abovebelow{padding:0.25em 1em;line-height:1.5em;text-align:center}.mw-parser-output .navbox-group{white-space:nowrap;text-align:right}.mw-parser-output .navbox,.mw-parser-output .navbox-subgroup{background-color:#fdfdfd}.mw-parser-output .navbox-list{line-height:1.5em;border-color:#fdfdfd}.mw-parser-output .navbox-list-with-group{text-align:left;border-left-width:2px;border-left-style:solid}.mw-parser-output tr+tr>.navbox-abovebelow,.mw-parser-output tr+tr>.navbox-group,.mw-parser-output tr+tr>.navbox-image,.mw-parser-output tr+tr>.navbox-list{border-top:2px solid #fdfdfd}.mw-parser-output .navbox-title{background-color:#ccf}.mw-parser-output .navbox-abovebelow,.mw-parser-output .navbox-group,.mw-parser-output .navbox-subgroup .navbox-title{background-color:#ddf}.mw-parser-output .navbox-subgroup .navbox-group,.mw-parser-output .navbox-subgroup .navbox-abovebelow{background-color:#e6e6ff}.mw-parser-output .navbox-even{background-color:#f7f7f7}.mw-parser-output .navbox-odd{background-color:transparent}.mw-parser-output .navbox .hlist td dl,.mw-parser-output .navbox .hlist td ol,.mw-parser-output .navbox .hlist td ul,.mw-parser-output .navbox td.hlist dl,.mw-parser-output .navbox td.hlist ol,.mw-parser-output .navbox td.hlist ul{padding:0.125em 0}.mw-parser-output .navbox .navbar{display:block;font-size:100%}.mw-parser-output .navbox-title .navbar{float:left;text-align:left;margin-right:0.5em}body.skin--responsive .mw-parser-output .navbox-image img{max-width:none!important}@media print{body.ns-0 .mw-parser-output .navbox{display:none!important}}</style><style data-mw-deduplicate="TemplateStyles:r1129693374">.mw-parser-output .hlist dl,.mw-parser-output .hlist ol,.mw-parser-output .hlist ul{margin:0;padding:0}.mw-parser-output .hlist dd,.mw-parser-output .hlist dt,.mw-parser-output .hlist li{margin:0;display:inline}.mw-parser-output .hlist.inline,.mw-parser-output .hlist.inline dl,.mw-parser-output .hlist.inline ol,.mw-parser-output .hlist.inline ul,.mw-parser-output .hlist dl dl,.mw-parser-output .hlist dl ol,.mw-parser-output .hlist dl ul,.mw-parser-output .hlist ol dl,.mw-parser-output .hlist ol ol,.mw-parser-output .hlist ol ul,.mw-parser-output .hlist ul dl,.mw-parser-output .hlist ul ol,.mw-parser-output .hlist ul ul{display:inline}.mw-parser-output .hlist .mw-empty-li{display:none}.mw-parser-output .hlist dt::after{content:": "}.mw-parser-output .hlist dd::after,.mw-parser-output .hlist li::after{content:" · ";font-weight:bold}.mw-parser-output .hlist dd:last-child::after,.mw-parser-output .hlist dt:last-child::after,.mw-parser-output .hlist li:last-child::after{content:none}.mw-parser-output .hlist dd dd:first-child::before,.mw-parser-output .hlist dd dt:first-child::before,.mw-parser-output .hlist dd li:first-child::before,.mw-parser-output .hlist dt dd:first-child::before,.mw-parser-output .hlist dt dt:first-child::before,.mw-parser-output .hlist dt li:first-child::before,.mw-parser-output .hlist li dd:first-child::before,.mw-parser-output .hlist li dt:first-child::before,.mw-parser-output .hlist li li:first-child::before{content:" (";font-weight:normal}.mw-parser-output .hlist dd dd:last-child::after,.mw-parser-output .hlist dd dt:last-child::after,.mw-parser-output .hlist dd li:last-child::after,.mw-parser-output .hlist dt dd:last-child::after,.mw-parser-output .hlist dt dt:last-child::after,.mw-parser-output .hlist dt li:last-child::after,.mw-parser-output .hlist li dd:last-child::after,.mw-parser-output .hlist li dt:last-child::after,.mw-parser-output .hlist li li:last-child::after{content:")";font-weight:normal}.mw-parser-output .hlist ol{counter-reset:listitem}.mw-parser-output .hlist ol>li{counter-increment:listitem}.mw-parser-output .hlist ol>li::before{content:" "counter(listitem)"\a0 "}.mw-parser-output .hlist dd ol>li:first-child::before,.mw-parser-output .hlist dt ol>li:first-child::before,.mw-parser-output .hlist li ol>li:first-child::before{content:" ("counter(listitem)"\a0 "}</style><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"></div><div role="navigation" class="navbox" aria-label="Navbox" style="width:100%; 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