Folliculocystic and collagenous hamartoma of tuberous sclerosis complex, not always a single cutaneous lesion
Folliculocystic and collagenous hamartoma (FCCH) is a rare cutaneous manifestation characterized by the presence of single plaques studded with comedo‐like openings and cysts. Although its pathophysiology is still unknown, it has generally been described in men with tuberous sclerosis complex (TSC)....
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| Veröffentlicht in: | Pediatric dermatology 2020-11, Vol.37 (6), p.1195-1197 |
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| container_title | Pediatric dermatology |
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| creator | Roca‐Ginés, Juncal Torres‐Navarro, Ignacio Llavador‐Ros, Margarita Évole‐Buselli, Montserrat |
| description | Folliculocystic and collagenous hamartoma (FCCH) is a rare cutaneous manifestation characterized by the presence of single plaques studded with comedo‐like openings and cysts. Although its pathophysiology is still unknown, it has generally been described in men with tuberous sclerosis complex (TSC). We report a case of a one‐year‐old child with two FCCH in the abdominal wall associated with TSC. In our case, a TSC2 mutation was identified. |
| doi_str_mv | 10.1111/pde.14310 |
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Although its pathophysiology is still unknown, it has generally been described in men with tuberous sclerosis complex (TSC). We report a case of a one‐year‐old child with two FCCH in the abdominal wall associated with TSC. 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Torres‐Navarro, Ignacio ; Llavador‐Ros, Margarita ; Évole‐Buselli, Montserrat</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3530-c9c29a658bf2345c87144c4ab313d05c1d50328154a8e3199720a14e9049e8653</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Abdominal wall</topic><topic>Babies</topic><topic>Case reports</topic><topic>Child</topic><topic>Collagen</topic><topic>collagenous hamartoma</topic><topic>Comedones</topic><topic>Cysts</topic><topic>Dermatology</topic><topic>folliculocystic</topic><topic>Genetic disorders</topic><topic>Hamartoma - diagnosis</topic><topic>Humans</topic><topic>Infant</topic><topic>Life Sciences & Biomedicine</topic><topic>Male</topic><topic>Medical diagnosis</topic><topic>Neoplasia</topic><topic>Nevus</topic><topic>Pediatrics</topic><topic>Plaques</topic><topic>Science & Technology</topic><topic>Tuberous sclerosis</topic><topic>Tuberous Sclerosis - complications</topic><topic>Tuberous Sclerosis - diagnosis</topic><topic>Tuberous Sclerosis Complex 2</topic><topic>Tuberous Sclerosis Complex 2 Protein</topic><topic>Tumors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Roca‐Ginés, Juncal</creatorcontrib><creatorcontrib>Torres‐Navarro, Ignacio</creatorcontrib><creatorcontrib>Llavador‐Ros, Margarita</creatorcontrib><creatorcontrib>Évole‐Buselli, Montserrat</creatorcontrib><collection>Web of Science - Science Citation Index Expanded - 2020</collection><collection>Web of Science Core Collection</collection><collection>Science Citation Index Expanded</collection><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>Roca‐Ginés, Juncal</au><au>Torres‐Navarro, Ignacio</au><au>Llavador‐Ros, Margarita</au><au>Évole‐Buselli, Montserrat</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Folliculocystic and collagenous hamartoma of tuberous sclerosis complex, not always a single cutaneous lesion</atitle><jtitle>Pediatric dermatology</jtitle><stitle>PEDIATR DERMATOL</stitle><addtitle>Pediatr Dermatol</addtitle><date>2020-11</date><risdate>2020</risdate><volume>37</volume><issue>6</issue><spage>1195</spage><epage>1197</epage><pages>1195-1197</pages><issn>0736-8046</issn><eissn>1525-1470</eissn><abstract>Folliculocystic and collagenous hamartoma (FCCH) is a rare cutaneous manifestation characterized by the presence of single plaques studded with comedo‐like openings and cysts. Although its pathophysiology is still unknown, it has generally been described in men with tuberous sclerosis complex (TSC). We report a case of a one‐year‐old child with two FCCH in the abdominal wall associated with TSC. In our case, a TSC2 mutation was identified.</abstract><cop>HOBOKEN</cop><pub>Wiley</pub><pmid>33270294</pmid><doi>10.1111/pde.14310</doi><tpages>3</tpages><orcidid>https://orcid.org/0000-0002-5448-5360</orcidid><orcidid>https://orcid.org/0000-0002-6199-7698</orcidid></addata></record> |
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| subjects | Abdominal wall Babies Case reports Child Collagen collagenous hamartoma Comedones Cysts Dermatology folliculocystic Genetic disorders Hamartoma - diagnosis Humans Infant Life Sciences & Biomedicine Male Medical diagnosis Neoplasia Nevus Pediatrics Plaques Science & Technology Tuberous sclerosis Tuberous Sclerosis - complications Tuberous Sclerosis - diagnosis Tuberous Sclerosis Complex 2 Tuberous Sclerosis Complex 2 Protein Tumors |
| title | Folliculocystic and collagenous hamartoma of tuberous sclerosis complex, not always a single cutaneous lesion |
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