Bilateral lipomatous hamartoma of the tongue: A case report in a child with oral‐facial‐digital syndrome type VI
A hamartoma is a benign proliferation of typical mature cells specific to a particular anatomical site. In the oral cavity, they may occur as isolated cases or be associated with genetic syndromes. Oral‐facial‐digital syndrome type VI is a rare genetic disorder with an estimated incidence of one in...
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description | A hamartoma is a benign proliferation of typical mature cells specific to a particular anatomical site. In the oral cavity, they may occur as isolated cases or be associated with genetic syndromes. Oral‐facial‐digital syndrome type VI is a rare genetic disorder with an estimated incidence of one in 50,000–250,000 newborns. Here, we report a case of a 2‐year‐old boy diagnosed with oral‐facial‐digital syndrome type VI who was referred for evaluation of a bilateral and normochromic to slightly pinkish nodule on the lateral surface of the tongue. Clinically, the child presented hypotonia, low visual acuity, absence of oculocephalic reflex, delay in neuropsychomotor development, and polydactyly in the feet. Excisional biopsies of both sides of the tongue were performed using a 1.5 W high‐power diode laser (wavelength of 980 nm), and histopathological analysis revealed abundant mature adipocytes predominantly arranged in lobules that mainly surrounded the minor salivary gland parenchyma. The surgical sites healed with no complications and the patient remains under follow‐up for 10 months. Due to the limited literature on this syndrome and the frequent presence of tongue hamartomas in children, dentists need to be familiar with them. |
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In the oral cavity, they may occur as isolated cases or be associated with genetic syndromes. Oral‐facial‐digital syndrome type VI is a rare genetic disorder with an estimated incidence of one in 50,000–250,000 newborns. Here, we report a case of a 2‐year‐old boy diagnosed with oral‐facial‐digital syndrome type VI who was referred for evaluation of a bilateral and normochromic to slightly pinkish nodule on the lateral surface of the tongue. Clinically, the child presented hypotonia, low visual acuity, absence of oculocephalic reflex, delay in neuropsychomotor development, and polydactyly in the feet. Excisional biopsies of both sides of the tongue were performed using a 1.5 W high‐power diode laser (wavelength of 980 nm), and histopathological analysis revealed abundant mature adipocytes predominantly arranged in lobules that mainly surrounded the minor salivary gland parenchyma. The surgical sites healed with no complications and the patient remains under follow‐up for 10 months. Due to the limited literature on this syndrome and the frequent presence of tongue hamartomas in children, dentists need to be familiar with them.</description><identifier>ISSN: 0275-1879</identifier><identifier>ISSN: 1754-4505</identifier><identifier>EISSN: 1754-4505</identifier><identifier>DOI: 10.1111/scd.12958</identifier><identifier>PMID: 38185723</identifier><language>eng</language><publisher>United States: Wiley Subscription Services, Inc</publisher><subject>Acuity ; Adipocytes ; Biopsy ; Case reports ; Cell proliferation ; Child, Preschool ; Genetic disorders ; Hamartoma - pathology ; Humans ; Joubert syndrome ; lipomatous ; Male ; Medical diagnosis ; Neonates ; Neoplasia ; Oral cavity ; oral‐facial‐digital syndrome ; Orofaciodigital Syndromes - diagnosis ; Orofaciodigital Syndromes - pathology ; Parenchyma ; Polydactyly ; Salivary gland ; Tongue ; Tongue Diseases - diagnosis ; Tongue Diseases - pathology ; tongue hamartoma</subject><ispartof>Special care in dentistry, 2024-07, Vol.44 (4), p.1036-1040</ispartof><rights>2024 Special Care Dentistry Association and Wiley Periodicals LLC.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3538-f975fccf60befa4f06fb94053674cc63147ef36036d34dc4389643a1428a37df3</citedby><cites>FETCH-LOGICAL-c3538-f975fccf60befa4f06fb94053674cc63147ef36036d34dc4389643a1428a37df3</cites><orcidid>0000-0002-9708-9608 ; 0000-0002-9564-2318 ; 0000-0001-8205-9935</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%2Fscd.12958$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fscd.12958$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>315,782,786,1419,27933,27934,45583,45584</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/38185723$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Queiroz, Aline</creatorcontrib><creatorcontrib>Pina, Paulo Sérgio Souza</creatorcontrib><creatorcontrib>Novaes, Myrian Stella Paiva</creatorcontrib><creatorcontrib>Dutra, Beatriz</creatorcontrib><creatorcontrib>de Sousa, Suzana Cantanhede Orsini Machado</creatorcontrib><creatorcontrib>Azevedo, Luciane Hiramatsu</creatorcontrib><title>Bilateral lipomatous hamartoma of the tongue: A case report in a child with oral‐facial‐digital syndrome type VI</title><title>Special care in dentistry</title><addtitle>Spec Care Dentist</addtitle><description>A hamartoma is a benign proliferation of typical mature cells specific to a particular anatomical site. In the oral cavity, they may occur as isolated cases or be associated with genetic syndromes. Oral‐facial‐digital syndrome type VI is a rare genetic disorder with an estimated incidence of one in 50,000–250,000 newborns. Here, we report a case of a 2‐year‐old boy diagnosed with oral‐facial‐digital syndrome type VI who was referred for evaluation of a bilateral and normochromic to slightly pinkish nodule on the lateral surface of the tongue. Clinically, the child presented hypotonia, low visual acuity, absence of oculocephalic reflex, delay in neuropsychomotor development, and polydactyly in the feet. Excisional biopsies of both sides of the tongue were performed using a 1.5 W high‐power diode laser (wavelength of 980 nm), and histopathological analysis revealed abundant mature adipocytes predominantly arranged in lobules that mainly surrounded the minor salivary gland parenchyma. The surgical sites healed with no complications and the patient remains under follow‐up for 10 months. Due to the limited literature on this syndrome and the frequent presence of tongue hamartomas in children, dentists need to be familiar with them.</description><subject>Acuity</subject><subject>Adipocytes</subject><subject>Biopsy</subject><subject>Case reports</subject><subject>Cell proliferation</subject><subject>Child, Preschool</subject><subject>Genetic disorders</subject><subject>Hamartoma - pathology</subject><subject>Humans</subject><subject>Joubert syndrome</subject><subject>lipomatous</subject><subject>Male</subject><subject>Medical diagnosis</subject><subject>Neonates</subject><subject>Neoplasia</subject><subject>Oral cavity</subject><subject>oral‐facial‐digital syndrome</subject><subject>Orofaciodigital Syndromes - diagnosis</subject><subject>Orofaciodigital Syndromes - pathology</subject><subject>Parenchyma</subject><subject>Polydactyly</subject><subject>Salivary gland</subject><subject>Tongue</subject><subject>Tongue Diseases - diagnosis</subject><subject>Tongue Diseases - pathology</subject><subject>tongue hamartoma</subject><issn>0275-1879</issn><issn>1754-4505</issn><issn>1754-4505</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kc1OGzEURi0EKoF2wQtUltjQxRB7_DOe7kJKKVKkLlrYWo7HJo5mxlPboyg7HoFn7JPgktAFEnfja-noyP4-AM4wusR5plE3l7ismTgAE1wxWlCG2CGYoLJiBRZVfQxOYlwjRDAuyw_gmAgsWFWSCUhXrlXJBNXC1g2-U8mPEa5Up0LKN-gtTCsDk-8fRvMVzqBW0cBgBh8SdD1UUK9c28CNSyvos-bv45NV2r0sjXtwKZvjtm-C77JmOxh4f_sRHFnVRvNpf56Cu-_Xv-c_isXPm9v5bFFowogobF0xq7XlaGmsohZxu6wpYoRXVGtOMK2MJRwR3hDaaEpEzSlRmJZCkaqx5BRc7LxD8H9GE5PsXNSmbVVv8jdlWWMsKBW1yOj5G3Ttx9Dn10mCBOY15phk6suO0sHHGIyVQ3A5qq3ESP6rQuYq5EsVmf28N47LzjT_ydfsMzDdARvXmu37Jvlr_m2nfAaJX5Q1</recordid><startdate>202407</startdate><enddate>202407</enddate><creator>Queiroz, Aline</creator><creator>Pina, Paulo Sérgio Souza</creator><creator>Novaes, Myrian Stella Paiva</creator><creator>Dutra, Beatriz</creator><creator>de Sousa, Suzana Cantanhede Orsini Machado</creator><creator>Azevedo, Luciane Hiramatsu</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>K9.</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0002-9708-9608</orcidid><orcidid>https://orcid.org/0000-0002-9564-2318</orcidid><orcidid>https://orcid.org/0000-0001-8205-9935</orcidid></search><sort><creationdate>202407</creationdate><title>Bilateral lipomatous hamartoma of the tongue: A case report in a child with oral‐facial‐digital syndrome type VI</title><author>Queiroz, Aline ; Pina, Paulo Sérgio Souza ; Novaes, Myrian Stella Paiva ; Dutra, Beatriz ; de Sousa, Suzana Cantanhede Orsini Machado ; Azevedo, Luciane Hiramatsu</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3538-f975fccf60befa4f06fb94053674cc63147ef36036d34dc4389643a1428a37df3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2024</creationdate><topic>Acuity</topic><topic>Adipocytes</topic><topic>Biopsy</topic><topic>Case reports</topic><topic>Cell proliferation</topic><topic>Child, Preschool</topic><topic>Genetic disorders</topic><topic>Hamartoma - pathology</topic><topic>Humans</topic><topic>Joubert syndrome</topic><topic>lipomatous</topic><topic>Male</topic><topic>Medical diagnosis</topic><topic>Neonates</topic><topic>Neoplasia</topic><topic>Oral cavity</topic><topic>oral‐facial‐digital syndrome</topic><topic>Orofaciodigital Syndromes - diagnosis</topic><topic>Orofaciodigital Syndromes - pathology</topic><topic>Parenchyma</topic><topic>Polydactyly</topic><topic>Salivary gland</topic><topic>Tongue</topic><topic>Tongue Diseases - diagnosis</topic><topic>Tongue Diseases - pathology</topic><topic>tongue hamartoma</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Queiroz, Aline</creatorcontrib><creatorcontrib>Pina, Paulo Sérgio Souza</creatorcontrib><creatorcontrib>Novaes, Myrian Stella Paiva</creatorcontrib><creatorcontrib>Dutra, Beatriz</creatorcontrib><creatorcontrib>de Sousa, Suzana Cantanhede Orsini Machado</creatorcontrib><creatorcontrib>Azevedo, Luciane Hiramatsu</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>MEDLINE - Academic</collection><jtitle>Special care in dentistry</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Queiroz, Aline</au><au>Pina, Paulo Sérgio Souza</au><au>Novaes, Myrian Stella Paiva</au><au>Dutra, Beatriz</au><au>de Sousa, Suzana Cantanhede Orsini Machado</au><au>Azevedo, Luciane Hiramatsu</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Bilateral lipomatous hamartoma of the tongue: A case report in a child with oral‐facial‐digital syndrome type VI</atitle><jtitle>Special care in dentistry</jtitle><addtitle>Spec Care Dentist</addtitle><date>2024-07</date><risdate>2024</risdate><volume>44</volume><issue>4</issue><spage>1036</spage><epage>1040</epage><pages>1036-1040</pages><issn>0275-1879</issn><issn>1754-4505</issn><eissn>1754-4505</eissn><abstract>A hamartoma is a benign proliferation of typical mature cells specific to a particular anatomical site. In the oral cavity, they may occur as isolated cases or be associated with genetic syndromes. Oral‐facial‐digital syndrome type VI is a rare genetic disorder with an estimated incidence of one in 50,000–250,000 newborns. Here, we report a case of a 2‐year‐old boy diagnosed with oral‐facial‐digital syndrome type VI who was referred for evaluation of a bilateral and normochromic to slightly pinkish nodule on the lateral surface of the tongue. Clinically, the child presented hypotonia, low visual acuity, absence of oculocephalic reflex, delay in neuropsychomotor development, and polydactyly in the feet. Excisional biopsies of both sides of the tongue were performed using a 1.5 W high‐power diode laser (wavelength of 980 nm), and histopathological analysis revealed abundant mature adipocytes predominantly arranged in lobules that mainly surrounded the minor salivary gland parenchyma. The surgical sites healed with no complications and the patient remains under follow‐up for 10 months. Due to the limited literature on this syndrome and the frequent presence of tongue hamartomas in children, dentists need to be familiar with them.</abstract><cop>United States</cop><pub>Wiley Subscription Services, Inc</pub><pmid>38185723</pmid><doi>10.1111/scd.12958</doi><tpages>5</tpages><orcidid>https://orcid.org/0000-0002-9708-9608</orcidid><orcidid>https://orcid.org/0000-0002-9564-2318</orcidid><orcidid>https://orcid.org/0000-0001-8205-9935</orcidid></addata></record> |
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subjects | Acuity Adipocytes Biopsy Case reports Cell proliferation Child, Preschool Genetic disorders Hamartoma - pathology Humans Joubert syndrome lipomatous Male Medical diagnosis Neonates Neoplasia Oral cavity oral‐facial‐digital syndrome Orofaciodigital Syndromes - diagnosis Orofaciodigital Syndromes - pathology Parenchyma Polydactyly Salivary gland Tongue Tongue Diseases - diagnosis Tongue Diseases - pathology tongue hamartoma |
title | Bilateral lipomatous hamartoma of the tongue: A case report in a child with oral‐facial‐digital syndrome type VI |
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