Darier disease

Darier disease (DD) is a type of inherited keratinizing disorder that exhibits autosomal dominant inheritance. DD is caused by the mutations of ATP2A2, which encodes an endoplasmic reticulum calcium pump, sarco/endoplasmic reticulum ATPase type 2 (SERCA2). DD often develops in childhood, persists th...

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Veröffentlicht in:Journal of dermatology 2016-03, Vol.43 (3), p.275-279
Hauptverfasser: Takagi, Atsushi, Kamijo, Maya, Ikeda, Shigaku
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creator Takagi, Atsushi
Kamijo, Maya
Ikeda, Shigaku
description Darier disease (DD) is a type of inherited keratinizing disorder that exhibits autosomal dominant inheritance. DD is caused by the mutations of ATP2A2, which encodes an endoplasmic reticulum calcium pump, sarco/endoplasmic reticulum ATPase type 2 (SERCA2). DD often develops in childhood, persists through adolescence, and causes small papules predominantly in seborrheic areas such as the face, chest and back. Further, scales and scabs may gradually develop. DD may be accompanied by non‐dermal symptoms, including psychiatric symptoms. Histologically, DD is characterized by corps ronds and grains in addition to suprabasal cleavage. There are no currently validated curative treatments available for DD, with the majority of cases treated symptomatically. Despite demonstrating efficacy in the treatment of DD, the use of oral retinoids has been limited due to the association with various adverse effects.
doi_str_mv 10.1111/1346-8138.13230
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DD is caused by the mutations of ATP2A2, which encodes an endoplasmic reticulum calcium pump, sarco/endoplasmic reticulum ATPase type 2 (SERCA2). DD often develops in childhood, persists through adolescence, and causes small papules predominantly in seborrheic areas such as the face, chest and back. Further, scales and scabs may gradually develop. DD may be accompanied by non‐dermal symptoms, including psychiatric symptoms. Histologically, DD is characterized by corps ronds and grains in addition to suprabasal cleavage. There are no currently validated curative treatments available for DD, with the majority of cases treated symptomatically. Despite demonstrating efficacy in the treatment of DD, the use of oral retinoids has been limited due to the association with various adverse effects.</description><subject>ATP2A2</subject><subject>Autosomal dominant inheritance</subject><subject>Ca2+-transporting ATPase</subject><subject>Calcium (reticular)</subject><subject>Children</subject><subject>Darier disease</subject><subject>Darier Disease - diagnosis</subject><subject>Darier Disease - genetics</subject><subject>Darier Disease - therapy</subject><subject>Darier's disease</subject><subject>Diagnosis, Differential</subject><subject>Endoplasmic reticulum</subject><subject>Hereditary diseases</subject><subject>Humans</subject><subject>Keratosis</subject><subject>Mutation</subject><subject>pathogenesis</subject><subject>Retinoids</subject><subject>review</subject><subject>sarco/endoplasmic reticulum ATPase type 2</subject><subject>Sarcoplasmic Reticulum Calcium-Transporting ATPases - genetics</subject><issn>0385-2407</issn><issn>1346-8138</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2016</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkE1PAjEQhhujEUS9ejMmXrwstJ3OthwNIH4Q5KDBeGnKbjdZXD5s2Sj_3uIiBw_ayyTN8z6ZeQk5Y7TJwmsxEHGkGKgmAw50j9R3P_ukTkFhxAWVNXLk_ZRS3kZGD0mNx22BCFgnp13jcusu0txb4-0xOchM4e3JdjbI803vqXMbDR77d53rQZQglzSSbckEV1QaEOkkRaaQWaNsjDThGdg2V0xaYBnjhprMTCCliUHkRiSplAwa5KryLt3ivbR-pWe5T2xRmLldlF6zAAmhKIqAXv5Cp4vSzcN2GsKBIEAK_IsKLooKOIdAtSoqcQvvnc300uUz49aaUb0pVG_q05v69HehIXG-9ZaTmU13_E-DAcAK-MgLu_7Pp--7vR9xVOVyv7Kfu5xxbzqWIFGPh309Go_4w-vwRSN8AaqpiU8</recordid><startdate>201603</startdate><enddate>201603</enddate><creator>Takagi, Atsushi</creator><creator>Kamijo, Maya</creator><creator>Ikeda, Shigaku</creator><general>Blackwell Publishing Ltd</general><general>Wiley Subscription Services, Inc</general><scope>BSCLL</scope><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>7X8</scope></search><sort><creationdate>201603</creationdate><title>Darier disease</title><author>Takagi, Atsushi ; Kamijo, Maya ; Ikeda, Shigaku</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c5270-797142807a34dbd51851ea8e650c2f3e92817e31f12a0afab3d0ca552a4cd7713</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2016</creationdate><topic>ATP2A2</topic><topic>Autosomal dominant inheritance</topic><topic>Ca2+-transporting ATPase</topic><topic>Calcium (reticular)</topic><topic>Children</topic><topic>Darier disease</topic><topic>Darier Disease - diagnosis</topic><topic>Darier Disease - genetics</topic><topic>Darier Disease - therapy</topic><topic>Darier's disease</topic><topic>Diagnosis, Differential</topic><topic>Endoplasmic reticulum</topic><topic>Hereditary diseases</topic><topic>Humans</topic><topic>Keratosis</topic><topic>Mutation</topic><topic>pathogenesis</topic><topic>Retinoids</topic><topic>review</topic><topic>sarco/endoplasmic reticulum ATPase type 2</topic><topic>Sarcoplasmic Reticulum Calcium-Transporting ATPases - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Takagi, Atsushi</creatorcontrib><creatorcontrib>Kamijo, Maya</creatorcontrib><creatorcontrib>Ikeda, Shigaku</creatorcontrib><collection>Istex</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 &amp; Medical Complete (Alumni)</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of dermatology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Takagi, Atsushi</au><au>Kamijo, Maya</au><au>Ikeda, Shigaku</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Darier disease</atitle><jtitle>Journal of dermatology</jtitle><addtitle>J Dermatol</addtitle><date>2016-03</date><risdate>2016</risdate><volume>43</volume><issue>3</issue><spage>275</spage><epage>279</epage><pages>275-279</pages><issn>0385-2407</issn><eissn>1346-8138</eissn><abstract>Darier disease (DD) is a type of inherited keratinizing disorder that exhibits autosomal dominant inheritance. DD is caused by the mutations of ATP2A2, which encodes an endoplasmic reticulum calcium pump, sarco/endoplasmic reticulum ATPase type 2 (SERCA2). DD often develops in childhood, persists through adolescence, and causes small papules predominantly in seborrheic areas such as the face, chest and back. Further, scales and scabs may gradually develop. DD may be accompanied by non‐dermal symptoms, including psychiatric symptoms. Histologically, DD is characterized by corps ronds and grains in addition to suprabasal cleavage. There are no currently validated curative treatments available for DD, with the majority of cases treated symptomatically. Despite demonstrating efficacy in the treatment of DD, the use of oral retinoids has been limited due to the association with various adverse effects.</abstract><cop>England</cop><pub>Blackwell Publishing Ltd</pub><pmid>26945535</pmid><doi>10.1111/1346-8138.13230</doi><tpages>5</tpages></addata></record>
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subjects ATP2A2
Autosomal dominant inheritance
Ca2+-transporting ATPase
Calcium (reticular)
Children
Darier disease
Darier Disease - diagnosis
Darier Disease - genetics
Darier Disease - therapy
Darier's disease
Diagnosis, Differential
Endoplasmic reticulum
Hereditary diseases
Humans
Keratosis
Mutation
pathogenesis
Retinoids
review
sarco/endoplasmic reticulum ATPase type 2
Sarcoplasmic Reticulum Calcium-Transporting ATPases - genetics
title Darier disease
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