KLICK syndrome: recognizable phenotype and hot‐spot POMP mutation
KLICK syndrome constitutes a clinically recognizable ichthyotic condition due to a 1-bp deletion in the POMP gene. The linear keratotic lesions constitute the most specific clinical features but arise lately. Diffuse palmoplantar keratoderma with sclerosing deformity of the fingers may represent the...
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| Veröffentlicht in: | Journal of the European Academy of Dermatology and Venereology 2017-03, Vol.31 (3), p.e154-e156 |
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| container_title | Journal of the European Academy of Dermatology and Venereology |
| container_volume | 31 |
| creator | Morice‐Picard, F. Jonca, N. Pichery, M. Mermin, D. Leauté‐Labrèze, C. Taïeb, A. Mazereeuw‐Hautier, J. Boralevi, F. |
| description | KLICK syndrome constitutes a clinically recognizable ichthyotic condition due to a 1-bp deletion in the POMP gene. The linear keratotic lesions constitute the most specific clinical features but arise lately. Diffuse palmoplantar keratoderma with sclerosing deformity of the fingers may represent the earliest skin abnormality clinically suggestive of the diagnosis. The initial absence of the specific skin anomalies makes difficult an early diagnosis. As molecular confirmation of KLICK syndrome is easy, search for the 1-bp deletion in POMP should be performed in young children presenting with undiagnosed sclerosing keratoderma and ichthyosiform erythroderma. |
| doi_str_mv | 10.1111/jdv.13898 |
| format | Article |
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The linear keratotic lesions constitute the most specific clinical features but arise lately. Diffuse palmoplantar keratoderma with sclerosing deformity of the fingers may represent the earliest skin abnormality clinically suggestive of the diagnosis. The initial absence of the specific skin anomalies makes difficult an early diagnosis. As molecular confirmation of KLICK syndrome is easy, search for the 1-bp deletion in POMP should be performed in young children presenting with undiagnosed sclerosing keratoderma and ichthyosiform erythroderma.</description><identifier>ISSN: 0926-9959</identifier><identifier>EISSN: 1468-3083</identifier><identifier>DOI: 10.1111/jdv.13898</identifier><identifier>PMID: 27503413</identifier><language>eng</language><publisher>England: Wiley</publisher><subject>Child ; Diagnosis, Differential ; DNA / genetics ; DNA Mutational Analysis ; Human health and pathology ; Humans ; Infectious diseases ; Life Sciences ; Male ; Molecular Chaperones / genetics ; Molecular Chaperones / metabolism ; Mutation ; Phenotype ; Skin / pathology ; Skin Abnormalities / diagnosis ; Skin Abnormalities / genetics ; Skin Abnormalities / metabolism ; Skin Diseases, Genetic / diagnosis ; Skin Diseases, Genetic / genetics ; Skin Diseases, Genetic / metabolism</subject><ispartof>Journal of the European Academy of Dermatology and Venereology, 2017-03, Vol.31 (3), p.e154-e156</ispartof><rights>2016 European Academy of Dermatology and Venereology</rights><rights>Distributed under a Creative Commons Attribution 4.0 International License</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3268-1945b19f8e7a43d3e7ba9ff69b476c40090faa2e3f6a445b3288c51e8f4ec05c3</citedby><cites>FETCH-LOGICAL-c3268-1945b19f8e7a43d3e7ba9ff69b476c40090faa2e3f6a445b3288c51e8f4ec05c3</cites><orcidid>0000-0003-3602-0102 ; 0000-0001-6259-9790</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%2Fjdv.13898$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fjdv.13898$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>230,315,781,785,886,1418,27929,27930,45579,45580</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/27503413$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://ut3-toulouseinp.hal.science/hal-03516664$$DView record in HAL$$Hfree_for_read</backlink></links><search><creatorcontrib>Morice‐Picard, F.</creatorcontrib><creatorcontrib>Jonca, N.</creatorcontrib><creatorcontrib>Pichery, M.</creatorcontrib><creatorcontrib>Mermin, D.</creatorcontrib><creatorcontrib>Leauté‐Labrèze, C.</creatorcontrib><creatorcontrib>Taïeb, A.</creatorcontrib><creatorcontrib>Mazereeuw‐Hautier, J.</creatorcontrib><creatorcontrib>Boralevi, F.</creatorcontrib><title>KLICK syndrome: recognizable phenotype and hot‐spot POMP mutation</title><title>Journal of the European Academy of Dermatology and Venereology</title><addtitle>J Eur Acad Dermatol Venereol</addtitle><description>KLICK syndrome constitutes a clinically recognizable ichthyotic condition due to a 1-bp deletion in the POMP gene. The linear keratotic lesions constitute the most specific clinical features but arise lately. Diffuse palmoplantar keratoderma with sclerosing deformity of the fingers may represent the earliest skin abnormality clinically suggestive of the diagnosis. The initial absence of the specific skin anomalies makes difficult an early diagnosis. As molecular confirmation of KLICK syndrome is easy, search for the 1-bp deletion in POMP should be performed in young children presenting with undiagnosed sclerosing keratoderma and ichthyosiform erythroderma.</description><subject>Child</subject><subject>Diagnosis, Differential</subject><subject>DNA / genetics</subject><subject>DNA Mutational Analysis</subject><subject>Human health and pathology</subject><subject>Humans</subject><subject>Infectious diseases</subject><subject>Life Sciences</subject><subject>Male</subject><subject>Molecular Chaperones / genetics</subject><subject>Molecular Chaperones / metabolism</subject><subject>Mutation</subject><subject>Phenotype</subject><subject>Skin / pathology</subject><subject>Skin Abnormalities / diagnosis</subject><subject>Skin Abnormalities / genetics</subject><subject>Skin Abnormalities / metabolism</subject><subject>Skin Diseases, Genetic / diagnosis</subject><subject>Skin Diseases, Genetic / genetics</subject><subject>Skin Diseases, Genetic / metabolism</subject><issn>0926-9959</issn><issn>1468-3083</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><recordid>eNp1kL1OwzAURi0EoqUw8AIoK0NaO3Ycm60KPy0NagdgtZzEJqmSOErSojDxCDwjT0JKoEzc5UpX5_t0dQA4R3CMupms4-0YYcbZARgiQpmNIcOHYAi5Q23OXT4AJ3W9hhAi5LJjMHA8F2KC8BD4i2DuL6y6LeLK5OrKqlRkXor0TYaZsspEFaZpS2XJIrYS03y-f9SlaazV8mFl5ZtGNqkpTsGRllmtzn72CDzd3jz6MztY3s39aWBH2OmeQpy4IeKaKU8SHGPlhZJrTXlIPBoRCDnUUjoKaypJh2KHschFimmiIuhGeAQu-95EZqKs0lxWrTAyFbNpIHY3iF1EKSVb9MdGlanrSul9AEGxkyY6aeJbWsde9Gy5CXMV78lfSx0w6YHXNFPt_03i_vq5r_wCJ9V12w</recordid><startdate>201703</startdate><enddate>201703</enddate><creator>Morice‐Picard, F.</creator><creator>Jonca, N.</creator><creator>Pichery, M.</creator><creator>Mermin, D.</creator><creator>Leauté‐Labrèze, C.</creator><creator>Taïeb, A.</creator><creator>Mazereeuw‐Hautier, J.</creator><creator>Boralevi, F.</creator><general>Wiley</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>1XC</scope><orcidid>https://orcid.org/0000-0003-3602-0102</orcidid><orcidid>https://orcid.org/0000-0001-6259-9790</orcidid></search><sort><creationdate>201703</creationdate><title>KLICK syndrome: recognizable phenotype and hot‐spot POMP mutation</title><author>Morice‐Picard, F. ; Jonca, N. ; Pichery, M. ; Mermin, D. ; Leauté‐Labrèze, C. ; Taïeb, A. ; Mazereeuw‐Hautier, J. ; Boralevi, F.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3268-1945b19f8e7a43d3e7ba9ff69b476c40090faa2e3f6a445b3288c51e8f4ec05c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>Child</topic><topic>Diagnosis, Differential</topic><topic>DNA / genetics</topic><topic>DNA Mutational Analysis</topic><topic>Human health and pathology</topic><topic>Humans</topic><topic>Infectious diseases</topic><topic>Life Sciences</topic><topic>Male</topic><topic>Molecular Chaperones / genetics</topic><topic>Molecular Chaperones / metabolism</topic><topic>Mutation</topic><topic>Phenotype</topic><topic>Skin / pathology</topic><topic>Skin Abnormalities / diagnosis</topic><topic>Skin Abnormalities / genetics</topic><topic>Skin Abnormalities / metabolism</topic><topic>Skin Diseases, Genetic / diagnosis</topic><topic>Skin Diseases, Genetic / genetics</topic><topic>Skin Diseases, Genetic / metabolism</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Morice‐Picard, F.</creatorcontrib><creatorcontrib>Jonca, N.</creatorcontrib><creatorcontrib>Pichery, M.</creatorcontrib><creatorcontrib>Mermin, D.</creatorcontrib><creatorcontrib>Leauté‐Labrèze, C.</creatorcontrib><creatorcontrib>Taïeb, A.</creatorcontrib><creatorcontrib>Mazereeuw‐Hautier, J.</creatorcontrib><creatorcontrib>Boralevi, F.</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>Hyper Article en Ligne (HAL)</collection><jtitle>Journal of the European Academy of Dermatology and Venereology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Morice‐Picard, F.</au><au>Jonca, N.</au><au>Pichery, M.</au><au>Mermin, D.</au><au>Leauté‐Labrèze, C.</au><au>Taïeb, A.</au><au>Mazereeuw‐Hautier, J.</au><au>Boralevi, F.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>KLICK syndrome: recognizable phenotype and hot‐spot POMP mutation</atitle><jtitle>Journal of the European Academy of Dermatology and Venereology</jtitle><addtitle>J Eur Acad Dermatol Venereol</addtitle><date>2017-03</date><risdate>2017</risdate><volume>31</volume><issue>3</issue><spage>e154</spage><epage>e156</epage><pages>e154-e156</pages><issn>0926-9959</issn><eissn>1468-3083</eissn><abstract>KLICK syndrome constitutes a clinically recognizable ichthyotic condition due to a 1-bp deletion in the POMP gene. The linear keratotic lesions constitute the most specific clinical features but arise lately. Diffuse palmoplantar keratoderma with sclerosing deformity of the fingers may represent the earliest skin abnormality clinically suggestive of the diagnosis. The initial absence of the specific skin anomalies makes difficult an early diagnosis. As molecular confirmation of KLICK syndrome is easy, search for the 1-bp deletion in POMP should be performed in young children presenting with undiagnosed sclerosing keratoderma and ichthyosiform erythroderma.</abstract><cop>England</cop><pub>Wiley</pub><pmid>27503413</pmid><doi>10.1111/jdv.13898</doi><tpages>2</tpages><orcidid>https://orcid.org/0000-0003-3602-0102</orcidid><orcidid>https://orcid.org/0000-0001-6259-9790</orcidid></addata></record> |
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| subjects | Child Diagnosis, Differential DNA / genetics DNA Mutational Analysis Human health and pathology Humans Infectious diseases Life Sciences Male Molecular Chaperones / genetics Molecular Chaperones / metabolism Mutation Phenotype Skin / pathology Skin Abnormalities / diagnosis Skin Abnormalities / genetics Skin Abnormalities / metabolism Skin Diseases, Genetic / diagnosis Skin Diseases, Genetic / genetics Skin Diseases, Genetic / metabolism |
| title | KLICK syndrome: recognizable phenotype and hot‐spot POMP mutation |
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