Atypical Café‐au‐Lait Macules in a Patient with Koolen‐de Vries Syndrome (17q21.31 Microdeletion Syndrome)
Koolen‐de Vries syndrome (KdVS), also referred to as the 17q21.31 microdeletion syndrome, is a rare genetic disorder characterized by developmental delay, typical facial dysmorphism, and congenital defects. Associated anomalies include many cutaneous findings. Here, we report a 17‐year‐old boy with...
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| Veröffentlicht in: | Pediatric dermatology 2019-07, Vol.36 (4), p.e97-e98 |
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| creator | Han, Allison M. Kusari, Ayan Soeprono, Fred Eichenfield, Lawrence F. |
| description | Koolen‐de Vries syndrome (KdVS), also referred to as the 17q21.31 microdeletion syndrome, is a rare genetic disorder characterized by developmental delay, typical facial dysmorphism, and congenital defects. Associated anomalies include many cutaneous findings. Here, we report a 17‐year‐old boy with KdVS (17q21.31 microdeletion syndrome) who presented with diffuse freckling and multiple pigmented lesions, found to be most consistent with atypical café‐au‐lait macules (CALMs) on biopsy. We review the cutaneous findings commonly associated with KdVS (17q21.31 microdeletion syndrome) and propose the addition of diffuse freckling and atypical CALMs, histologically similar to those that may be found in neurofibromatosis type 1, to the cutaneous findings associated with KdVS (17q21.31 microdeletion syndrome). |
| doi_str_mv | 10.1111/pde.13849 |
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Associated anomalies include many cutaneous findings. Here, we report a 17‐year‐old boy with KdVS (17q21.31 microdeletion syndrome) who presented with diffuse freckling and multiple pigmented lesions, found to be most consistent with atypical café‐au‐lait macules (CALMs) on biopsy. We review the cutaneous findings commonly associated with KdVS (17q21.31 microdeletion syndrome) and propose the addition of diffuse freckling and atypical CALMs, histologically similar to those that may be found in neurofibromatosis type 1, to the cutaneous findings associated with KdVS (17q21.31 microdeletion syndrome).</description><identifier>ISSN: 0736-8046</identifier><identifier>EISSN: 1525-1470</identifier><identifier>DOI: 10.1111/pde.13849</identifier><identifier>PMID: 31125459</identifier><language>eng</language><publisher>United States: Wiley Subscription Services, Inc</publisher><subject>Abnormalities, Multiple - diagnosis ; Abnormalities, Multiple - genetics ; Adolescent ; Biopsy ; Cafe-au-Lait Spots - complications ; Cafe-au-Lait Spots - diagnosis ; Cafe-au-Lait Spots - genetics ; Case reports ; Chromosome Deletion ; Chromosomes, Human, Pair 17 - genetics ; Congenital defects ; dermatopathology ; developmental defects ; Developmental disabilities ; dyspigmentation ; Follow-Up Studies ; genetic diseases ; Genetic disorders ; Genetic Predisposition to Disease ; Humans ; Intellectual Disability - complications ; Intellectual Disability - diagnosis ; Intellectual Disability - genetics ; Male ; Melanosis - complications ; Melanosis - diagnosis ; Neurofibromatosis ; Neurofibromatosis 1 - complications ; Neurofibromatosis 1 - diagnosis ; Rare Diseases ; Recklinghausen's disease ; Risk Assessment</subject><ispartof>Pediatric dermatology, 2019-07, Vol.36 (4), p.e97-e98</ispartof><rights>2019 Wiley Periodicals, Inc.</rights><rights>Copyright © 2019 Wiley Periodicals, Inc.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3539-b4794b71a65e16de5764686dbc5b9c53507e6b2353963308699456f002d9eea43</citedby><cites>FETCH-LOGICAL-c3539-b4794b71a65e16de5764686dbc5b9c53507e6b2353963308699456f002d9eea43</cites><orcidid>0000-0002-2760-0474 ; 0000-0001-6702-5163 ; 0000-0003-2100-7407</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.13849$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fpde.13849$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/31125459$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Han, Allison M.</creatorcontrib><creatorcontrib>Kusari, Ayan</creatorcontrib><creatorcontrib>Soeprono, Fred</creatorcontrib><creatorcontrib>Eichenfield, Lawrence F.</creatorcontrib><title>Atypical Café‐au‐Lait Macules in a Patient with Koolen‐de Vries Syndrome (17q21.31 Microdeletion Syndrome)</title><title>Pediatric dermatology</title><addtitle>Pediatr Dermatol</addtitle><description>Koolen‐de Vries syndrome (KdVS), also referred to as the 17q21.31 microdeletion syndrome, is a rare genetic disorder characterized by developmental delay, typical facial dysmorphism, and congenital defects. Associated anomalies include many cutaneous findings. Here, we report a 17‐year‐old boy with KdVS (17q21.31 microdeletion syndrome) who presented with diffuse freckling and multiple pigmented lesions, found to be most consistent with atypical café‐au‐lait macules (CALMs) on biopsy. We review the cutaneous findings commonly associated with KdVS (17q21.31 microdeletion syndrome) and propose the addition of diffuse freckling and atypical CALMs, histologically similar to those that may be found in neurofibromatosis type 1, to the cutaneous findings associated with KdVS (17q21.31 microdeletion syndrome).</description><subject>Abnormalities, Multiple - diagnosis</subject><subject>Abnormalities, Multiple - genetics</subject><subject>Adolescent</subject><subject>Biopsy</subject><subject>Cafe-au-Lait Spots - complications</subject><subject>Cafe-au-Lait Spots - diagnosis</subject><subject>Cafe-au-Lait Spots - genetics</subject><subject>Case reports</subject><subject>Chromosome Deletion</subject><subject>Chromosomes, Human, Pair 17 - genetics</subject><subject>Congenital defects</subject><subject>dermatopathology</subject><subject>developmental defects</subject><subject>Developmental disabilities</subject><subject>dyspigmentation</subject><subject>Follow-Up Studies</subject><subject>genetic diseases</subject><subject>Genetic disorders</subject><subject>Genetic Predisposition to Disease</subject><subject>Humans</subject><subject>Intellectual Disability - complications</subject><subject>Intellectual Disability - diagnosis</subject><subject>Intellectual Disability - genetics</subject><subject>Male</subject><subject>Melanosis - complications</subject><subject>Melanosis - diagnosis</subject><subject>Neurofibromatosis</subject><subject>Neurofibromatosis 1 - complications</subject><subject>Neurofibromatosis 1 - diagnosis</subject><subject>Rare Diseases</subject><subject>Recklinghausen's disease</subject><subject>Risk Assessment</subject><issn>0736-8046</issn><issn>1525-1470</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2019</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp10UtOwzAUBVALgWgpDNgAssSkDNL6n3hYla9oBRKfaeQkr8JVmrRxoqozlsA2WAc7YSW4tDBAwgN7cnTl9y5Cx5T0qD_9eQY9yiOhd1CbSiYDKkKyi9ok5CqIiFAtdODclBASKUX3UYtTyqSQuo0Wg3o1t6nJ8dBMPt4_X99M46-RsTUem7TJwWFbYIPvTW2hqPHS1i_4tixzKLzLAD9X1puHVZFV5Qxwl4YLRnuc4rFNqzKDHGpbFr_g7BDtTUzu4Gj7dtDT5cXj8DoY3V3dDAejIOWS6yARoRZJSI2SQFUGMlRCRSpLUpnoVHJJQlAJW1vFuR9MayHVhBCWaQAjeAd1N7nzqlw04Op4Zl0KeW4KKBsXM8aZXx6j3NPTP3RaNlXhf-eVFFyTKFRenW2UH8u5CibxvLIzU61iSuJ1D7HvIf7uwduTbWKTzCD7lT-L96C_AUubw-r_pPj-_GIT-QXMMZHX</recordid><startdate>201907</startdate><enddate>201907</enddate><creator>Han, Allison M.</creator><creator>Kusari, Ayan</creator><creator>Soeprono, Fred</creator><creator>Eichenfield, Lawrence F.</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/0000-0002-2760-0474</orcidid><orcidid>https://orcid.org/0000-0001-6702-5163</orcidid><orcidid>https://orcid.org/0000-0003-2100-7407</orcidid></search><sort><creationdate>201907</creationdate><title>Atypical Café‐au‐Lait Macules in a Patient with Koolen‐de Vries Syndrome (17q21.31 Microdeletion Syndrome)</title><author>Han, Allison M. ; Kusari, Ayan ; Soeprono, Fred ; Eichenfield, Lawrence F.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3539-b4794b71a65e16de5764686dbc5b9c53507e6b2353963308699456f002d9eea43</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2019</creationdate><topic>Abnormalities, Multiple - diagnosis</topic><topic>Abnormalities, Multiple - genetics</topic><topic>Adolescent</topic><topic>Biopsy</topic><topic>Cafe-au-Lait Spots - complications</topic><topic>Cafe-au-Lait Spots - diagnosis</topic><topic>Cafe-au-Lait Spots - genetics</topic><topic>Case reports</topic><topic>Chromosome Deletion</topic><topic>Chromosomes, Human, Pair 17 - genetics</topic><topic>Congenital defects</topic><topic>dermatopathology</topic><topic>developmental defects</topic><topic>Developmental disabilities</topic><topic>dyspigmentation</topic><topic>Follow-Up Studies</topic><topic>genetic diseases</topic><topic>Genetic disorders</topic><topic>Genetic Predisposition to Disease</topic><topic>Humans</topic><topic>Intellectual Disability - complications</topic><topic>Intellectual Disability - diagnosis</topic><topic>Intellectual Disability - genetics</topic><topic>Male</topic><topic>Melanosis - complications</topic><topic>Melanosis - diagnosis</topic><topic>Neurofibromatosis</topic><topic>Neurofibromatosis 1 - complications</topic><topic>Neurofibromatosis 1 - diagnosis</topic><topic>Rare Diseases</topic><topic>Recklinghausen's disease</topic><topic>Risk Assessment</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Han, Allison M.</creatorcontrib><creatorcontrib>Kusari, Ayan</creatorcontrib><creatorcontrib>Soeprono, Fred</creatorcontrib><creatorcontrib>Eichenfield, Lawrence F.</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>Han, Allison M.</au><au>Kusari, Ayan</au><au>Soeprono, Fred</au><au>Eichenfield, Lawrence F.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Atypical Café‐au‐Lait Macules in a Patient with Koolen‐de Vries Syndrome (17q21.31 Microdeletion Syndrome)</atitle><jtitle>Pediatric dermatology</jtitle><addtitle>Pediatr Dermatol</addtitle><date>2019-07</date><risdate>2019</risdate><volume>36</volume><issue>4</issue><spage>e97</spage><epage>e98</epage><pages>e97-e98</pages><issn>0736-8046</issn><eissn>1525-1470</eissn><abstract>Koolen‐de Vries syndrome (KdVS), also referred to as the 17q21.31 microdeletion syndrome, is a rare genetic disorder characterized by developmental delay, typical facial dysmorphism, and congenital defects. Associated anomalies include many cutaneous findings. Here, we report a 17‐year‐old boy with KdVS (17q21.31 microdeletion syndrome) who presented with diffuse freckling and multiple pigmented lesions, found to be most consistent with atypical café‐au‐lait macules (CALMs) on biopsy. We review the cutaneous findings commonly associated with KdVS (17q21.31 microdeletion syndrome) and propose the addition of diffuse freckling and atypical CALMs, histologically similar to those that may be found in neurofibromatosis type 1, to the cutaneous findings associated with KdVS (17q21.31 microdeletion syndrome).</abstract><cop>United States</cop><pub>Wiley Subscription Services, Inc</pub><pmid>31125459</pmid><doi>10.1111/pde.13849</doi><tpages>2</tpages><orcidid>https://orcid.org/0000-0002-2760-0474</orcidid><orcidid>https://orcid.org/0000-0001-6702-5163</orcidid><orcidid>https://orcid.org/0000-0003-2100-7407</orcidid></addata></record> |
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| subjects | Abnormalities, Multiple - diagnosis Abnormalities, Multiple - genetics Adolescent Biopsy Cafe-au-Lait Spots - complications Cafe-au-Lait Spots - diagnosis Cafe-au-Lait Spots - genetics Case reports Chromosome Deletion Chromosomes, Human, Pair 17 - genetics Congenital defects dermatopathology developmental defects Developmental disabilities dyspigmentation Follow-Up Studies genetic diseases Genetic disorders Genetic Predisposition to Disease Humans Intellectual Disability - complications Intellectual Disability - diagnosis Intellectual Disability - genetics Male Melanosis - complications Melanosis - diagnosis Neurofibromatosis Neurofibromatosis 1 - complications Neurofibromatosis 1 - diagnosis Rare Diseases Recklinghausen's disease Risk Assessment |
| title | Atypical Café‐au‐Lait Macules in a Patient with Koolen‐de Vries Syndrome (17q21.31 Microdeletion Syndrome) |
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