Trichoscopic findings in neonatal alopecia in oro‐facial‐digital syndrome type 1
Oral–facial–digital syndrome type 1 (OFD1) is an X‐linked dominant development disorder due to mutations in the OFD1 gene. It is characterized by facial, oral, and digital malformations, although expression is variable. Skin manifestations are frequent (20%–30% of patients) and characterized by evan...
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| Veröffentlicht in: | Pediatric dermatology 2024-11, Vol.41 (6), p.1199-1202 |
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| creator | Martinez‐Molina, Manel Carmona‐Rocha, Elena Gil‐Lianes, Javier Yubero, Delia Casas‐Alba, Dídac Baselga, Eulàlia Ivars, Marta |
| description | Oral–facial–digital syndrome type 1 (OFD1) is an X‐linked dominant development disorder due to mutations in the OFD1 gene. It is characterized by facial, oral, and digital malformations, although expression is variable. Skin manifestations are frequent (20%–30% of patients) and characterized by evanescent milia and patchy alopecia. Trichoscopic findings (broken hairs, black dots, pili torti) can resemble tinea capitis, although such findings have not been well characterized. High clinical suspicion of ectodermal dysplasia‐like syndromes due to trichoscopy findings, absence of response to long‐term antifungal therapy, and the presence of midline anomalies can raise suspicion for OFD1, which can be confirmed by genetic testing and enable diagnosis. |
| doi_str_mv | 10.1111/pde.15686 |
| format | Article |
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It is characterized by facial, oral, and digital malformations, although expression is variable. Skin manifestations are frequent (20%–30% of patients) and characterized by evanescent milia and patchy alopecia. Trichoscopic findings (broken hairs, black dots, pili torti) can resemble tinea capitis, although such findings have not been well characterized. High clinical suspicion of ectodermal dysplasia‐like syndromes due to trichoscopy findings, absence of response to long‐term antifungal therapy, and the presence of midline anomalies can raise suspicion for OFD1, which can be confirmed by genetic testing and enable diagnosis.</description><identifier>ISSN: 0736-8046</identifier><identifier>ISSN: 1525-1470</identifier><identifier>EISSN: 1525-1470</identifier><identifier>DOI: 10.1111/pde.15686</identifier><identifier>PMID: 38969348</identifier><language>eng</language><publisher>United States: Wiley Subscription Services, Inc</publisher><subject>Alopecia ; Alopecia - pathology ; Dermoscopy ; Diagnosis, Differential ; Hereditary diseases ; Humans ; Neonates ; OFD1 ; oral‐facial‐digital syndrome ; Orofaciodigital Syndromes - complications ; Orofaciodigital Syndromes - diagnosis ; Orofaciodigital Syndromes - genetics ; Tinea capitis ; trichoscopy</subject><ispartof>Pediatric dermatology, 2024-11, Vol.41 (6), p.1199-1202</ispartof><rights>2024 Wiley Periodicals LLC.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c2436-e1bd6f82f22e664bfd6233a2c520574522f7a032ea47f2725c9467cf2d0329313</cites><orcidid>0000-0003-4979-3593 ; 0000-0001-7235-528X</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fpde.15686$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fpde.15686$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,777,781,1412,27905,27906,45555,45556</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/38969348$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Martinez‐Molina, Manel</creatorcontrib><creatorcontrib>Carmona‐Rocha, Elena</creatorcontrib><creatorcontrib>Gil‐Lianes, Javier</creatorcontrib><creatorcontrib>Yubero, Delia</creatorcontrib><creatorcontrib>Casas‐Alba, Dídac</creatorcontrib><creatorcontrib>Baselga, Eulàlia</creatorcontrib><creatorcontrib>Ivars, Marta</creatorcontrib><title>Trichoscopic findings in neonatal alopecia in oro‐facial‐digital syndrome type 1</title><title>Pediatric dermatology</title><addtitle>Pediatr Dermatol</addtitle><description>Oral–facial–digital syndrome type 1 (OFD1) is an X‐linked dominant development disorder due to mutations in the OFD1 gene. 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High clinical suspicion of ectodermal dysplasia‐like syndromes due to trichoscopy findings, absence of response to long‐term antifungal therapy, and the presence of midline anomalies can raise suspicion for OFD1, which can be confirmed by genetic testing and enable diagnosis.</description><subject>Alopecia</subject><subject>Alopecia - pathology</subject><subject>Dermoscopy</subject><subject>Diagnosis, Differential</subject><subject>Hereditary diseases</subject><subject>Humans</subject><subject>Neonates</subject><subject>OFD1</subject><subject>oral‐facial‐digital syndrome</subject><subject>Orofaciodigital Syndromes - complications</subject><subject>Orofaciodigital Syndromes - diagnosis</subject><subject>Orofaciodigital Syndromes - genetics</subject><subject>Tinea capitis</subject><subject>trichoscopy</subject><issn>0736-8046</issn><issn>1525-1470</issn><issn>1525-1470</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kMtKAzEUhoMoWqsLX0AG3OiiNTm5zSylXkHQRV2HNJNoynQyJi3SnY_gM_okpra6EDybnBw-Pn5-hI4IHpI8511th4SLUmyhHuHAB4RJvI16WFIxKDETe2g_pSnGuBSC7KI9WlaioqzsofE4evMSkgmdN4Xzbe3b51T4tmhtaPVcN4VuQmeN16tjiOHz_cPp_G3yUvtnv0LSsq1jmNlivuxsQQ7QjtNNsoebt4-erq_Go9vB_cPN3ejifmCA5WSWTGrhSnAAVgg2cbUASjUYDphLxgGc1JiC1Uw6kMBNxYQ0Dup8rCihfXS69nYxvC5smquZT8Y2jc7hF0lRLAWUogSZ0ZM_6DQsYpvTqSzCnDOoVsKzNWViSClap7roZzouFcFqVbXKVavvqjN7vDEuJjNb_5I_3WbgfA28-cYu_zepx8urtfILIP6IXA</recordid><startdate>202411</startdate><enddate>202411</enddate><creator>Martinez‐Molina, Manel</creator><creator>Carmona‐Rocha, Elena</creator><creator>Gil‐Lianes, Javier</creator><creator>Yubero, Delia</creator><creator>Casas‐Alba, Dídac</creator><creator>Baselga, Eulàlia</creator><creator>Ivars, Marta</creator><general>Wiley Subscription Services, Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7T5</scope><scope>H94</scope><scope>K9.</scope><scope>NAPCQ</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0003-4979-3593</orcidid><orcidid>https://orcid.org/0000-0001-7235-528X</orcidid></search><sort><creationdate>202411</creationdate><title>Trichoscopic findings in neonatal alopecia in oro‐facial‐digital syndrome type 1</title><author>Martinez‐Molina, Manel ; Carmona‐Rocha, Elena ; Gil‐Lianes, Javier ; Yubero, Delia ; Casas‐Alba, Dídac ; Baselga, Eulàlia ; Ivars, Marta</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c2436-e1bd6f82f22e664bfd6233a2c520574522f7a032ea47f2725c9467cf2d0329313</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2024</creationdate><topic>Alopecia</topic><topic>Alopecia - pathology</topic><topic>Dermoscopy</topic><topic>Diagnosis, Differential</topic><topic>Hereditary diseases</topic><topic>Humans</topic><topic>Neonates</topic><topic>OFD1</topic><topic>oral‐facial‐digital syndrome</topic><topic>Orofaciodigital Syndromes - complications</topic><topic>Orofaciodigital Syndromes - diagnosis</topic><topic>Orofaciodigital Syndromes - genetics</topic><topic>Tinea capitis</topic><topic>trichoscopy</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Martinez‐Molina, Manel</creatorcontrib><creatorcontrib>Carmona‐Rocha, Elena</creatorcontrib><creatorcontrib>Gil‐Lianes, Javier</creatorcontrib><creatorcontrib>Yubero, Delia</creatorcontrib><creatorcontrib>Casas‐Alba, Dídac</creatorcontrib><creatorcontrib>Baselga, Eulàlia</creatorcontrib><creatorcontrib>Ivars, Marta</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Immunology Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Premium</collection><collection>MEDLINE - Academic</collection><jtitle>Pediatric dermatology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Martinez‐Molina, Manel</au><au>Carmona‐Rocha, Elena</au><au>Gil‐Lianes, Javier</au><au>Yubero, Delia</au><au>Casas‐Alba, Dídac</au><au>Baselga, Eulàlia</au><au>Ivars, Marta</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Trichoscopic findings in neonatal alopecia in oro‐facial‐digital syndrome type 1</atitle><jtitle>Pediatric dermatology</jtitle><addtitle>Pediatr Dermatol</addtitle><date>2024-11</date><risdate>2024</risdate><volume>41</volume><issue>6</issue><spage>1199</spage><epage>1202</epage><pages>1199-1202</pages><issn>0736-8046</issn><issn>1525-1470</issn><eissn>1525-1470</eissn><abstract>Oral–facial–digital syndrome type 1 (OFD1) is an X‐linked dominant development disorder due to mutations in the OFD1 gene. It is characterized by facial, oral, and digital malformations, although expression is variable. Skin manifestations are frequent (20%–30% of patients) and characterized by evanescent milia and patchy alopecia. Trichoscopic findings (broken hairs, black dots, pili torti) can resemble tinea capitis, although such findings have not been well characterized. High clinical suspicion of ectodermal dysplasia‐like syndromes due to trichoscopy findings, absence of response to long‐term antifungal therapy, and the presence of midline anomalies can raise suspicion for OFD1, which can be confirmed by genetic testing and enable diagnosis.</abstract><cop>United States</cop><pub>Wiley Subscription Services, Inc</pub><pmid>38969348</pmid><doi>10.1111/pde.15686</doi><tpages>4</tpages><orcidid>https://orcid.org/0000-0003-4979-3593</orcidid><orcidid>https://orcid.org/0000-0001-7235-528X</orcidid></addata></record> |
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| subjects | Alopecia Alopecia - pathology Dermoscopy Diagnosis, Differential Hereditary diseases Humans Neonates OFD1 oral‐facial‐digital syndrome Orofaciodigital Syndromes - complications Orofaciodigital Syndromes - diagnosis Orofaciodigital Syndromes - genetics Tinea capitis trichoscopy |
| title | Trichoscopic findings in neonatal alopecia in oro‐facial‐digital syndrome type 1 |
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