Porphyria cutanea tarda: an intriguing genetic disease and marker
Porphyrias are a group of intriguing genetic diseases of the heme pathway, of which porphyria cutanea tarda (PCT) is the most common. Resulting from a defect in enzymes in the porphyria pathway, PCT has been linked to several conditions. Recent studies have demonstrated a change in thinking regardin...
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| Veröffentlicht in: | International journal of dermatology 2017-06, Vol.56 (6), p.e106-e117 |
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| container_end_page | e117 |
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| container_issue | 6 |
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| container_title | International journal of dermatology |
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| creator | Handler, Nancy S. Handler, Marc Z. Stephany, Matthew P. Handler, Glenn A. Schwartz, Robert A. |
| description | Porphyrias are a group of intriguing genetic diseases of the heme pathway, of which porphyria cutanea tarda (PCT) is the most common. Resulting from a defect in enzymes in the porphyria pathway, PCT has been linked to several conditions. Recent studies have demonstrated a change in thinking regarding the human immunodeficiency virus (HIV) and development of PCT. The exacerbation of PCT with contraction of HIV is now believed to result from coinfection from the hepatitis C virus (HCV). Blistering of sun‐exposed skin, a classic presenting sign of PCT, is not exclusive to the condition. Cutaneous findings must also trigger physicians to consider additional types of porphyrias, such as variegate porphyria. The diagnosis of pseudoporphyria, which does not result from enzymatic absence, must be considered in patients with photosensitivity and cutaneous bullae. Recent health food trends, such as chlorophyll, have been linked to pseudoporphyria. PCT is a serious condition in which accurate diagnosis is necessary for appropriate management. |
| doi_str_mv | 10.1111/ijd.13580 |
| format | Article |
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Resulting from a defect in enzymes in the porphyria pathway, PCT has been linked to several conditions. Recent studies have demonstrated a change in thinking regarding the human immunodeficiency virus (HIV) and development of PCT. The exacerbation of PCT with contraction of HIV is now believed to result from coinfection from the hepatitis C virus (HCV). Blistering of sun‐exposed skin, a classic presenting sign of PCT, is not exclusive to the condition. Cutaneous findings must also trigger physicians to consider additional types of porphyrias, such as variegate porphyria. The diagnosis of pseudoporphyria, which does not result from enzymatic absence, must be considered in patients with photosensitivity and cutaneous bullae. Recent health food trends, such as chlorophyll, have been linked to pseudoporphyria. PCT is a serious condition in which accurate diagnosis is necessary for appropriate management.</description><identifier>ISSN: 0011-9059</identifier><identifier>EISSN: 1365-4632</identifier><identifier>DOI: 10.1111/ijd.13580</identifier><identifier>PMID: 28321838</identifier><language>eng</language><publisher>England: Blackwell Publishing Ltd</publisher><subject>Blistering ; Chlorophyll ; Contraction ; Diagnosis ; Diagnosis, Differential ; Disease Progression ; Enzymes ; Food ; Heme ; Heme - biosynthesis ; Hepatitis ; Hepatitis C ; HIV ; Human immunodeficiency virus ; Humans ; Medical personnel ; Photosensitivity ; Physicians ; Porphyria ; Porphyria cutanea tarda ; Porphyria Cutanea Tarda - diagnosis ; Porphyria Cutanea Tarda - enzymology ; Porphyria Cutanea Tarda - genetics ; Porphyria Cutanea Tarda - therapy ; Porphyrias, Hepatic - diagnosis ; Risk Factors ; Skin ; Viruses</subject><ispartof>International journal of dermatology, 2017-06, Vol.56 (6), p.e106-e117</ispartof><rights>2017 The International Society of Dermatology</rights><rights>2017 The International Society of Dermatology.</rights><rights>International Journal of Dermatology © 2017 International Society of Dermatology</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3530-8b649aba98da451a39a7c12e280cc779e4e2e1ea8e0be5486016469f5e1237863</citedby><cites>FETCH-LOGICAL-c3530-8b649aba98da451a39a7c12e280cc779e4e2e1ea8e0be5486016469f5e1237863</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fijd.13580$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fijd.13580$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/28321838$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Handler, Nancy S.</creatorcontrib><creatorcontrib>Handler, Marc Z.</creatorcontrib><creatorcontrib>Stephany, Matthew P.</creatorcontrib><creatorcontrib>Handler, Glenn A.</creatorcontrib><creatorcontrib>Schwartz, Robert A.</creatorcontrib><title>Porphyria cutanea tarda: an intriguing genetic disease and marker</title><title>International journal of dermatology</title><addtitle>Int J Dermatol</addtitle><description>Porphyrias are a group of intriguing genetic diseases of the heme pathway, of which porphyria cutanea tarda (PCT) is the most common. Resulting from a defect in enzymes in the porphyria pathway, PCT has been linked to several conditions. Recent studies have demonstrated a change in thinking regarding the human immunodeficiency virus (HIV) and development of PCT. The exacerbation of PCT with contraction of HIV is now believed to result from coinfection from the hepatitis C virus (HCV). Blistering of sun‐exposed skin, a classic presenting sign of PCT, is not exclusive to the condition. Cutaneous findings must also trigger physicians to consider additional types of porphyrias, such as variegate porphyria. The diagnosis of pseudoporphyria, which does not result from enzymatic absence, must be considered in patients with photosensitivity and cutaneous bullae. Recent health food trends, such as chlorophyll, have been linked to pseudoporphyria. PCT is a serious condition in which accurate diagnosis is necessary for appropriate management.</description><subject>Blistering</subject><subject>Chlorophyll</subject><subject>Contraction</subject><subject>Diagnosis</subject><subject>Diagnosis, Differential</subject><subject>Disease Progression</subject><subject>Enzymes</subject><subject>Food</subject><subject>Heme</subject><subject>Heme - biosynthesis</subject><subject>Hepatitis</subject><subject>Hepatitis C</subject><subject>HIV</subject><subject>Human immunodeficiency virus</subject><subject>Humans</subject><subject>Medical personnel</subject><subject>Photosensitivity</subject><subject>Physicians</subject><subject>Porphyria</subject><subject>Porphyria cutanea tarda</subject><subject>Porphyria Cutanea Tarda - diagnosis</subject><subject>Porphyria Cutanea Tarda - enzymology</subject><subject>Porphyria Cutanea Tarda - genetics</subject><subject>Porphyria Cutanea Tarda - therapy</subject><subject>Porphyrias, Hepatic - diagnosis</subject><subject>Risk Factors</subject><subject>Skin</subject><subject>Viruses</subject><issn>0011-9059</issn><issn>1365-4632</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kMtOwzAQRS0EoqWw4AdQJDawSOt3bHZVeRVVggWsLSeZFpc2KXYi1L_HkMICidnMjObo6s5F6JTgIYk1cstySJhQeA_1CZMi5ZLRfdTHmJBUY6F76CiEZVwZJfwQ9aiKg2Kqj8ZPtd-8br2zSdE2tgKbNNaX9iqxVeKqxrtF66pFsoAKGlckpQtgA8RrmaytfwN_jA7mdhXgZNcH6OX25nlyn84e76aT8SwtmGA4Vbnk2uZWq9JyQSzTNisIBapwUWSZBg4UCFgFOAfBlcREcqnnAghlmZJsgC463Y2v31sIjVm7UMBqFU3XbTBEZVpKoTMV0fM_6LJufRXdGaIpFkpzyiN12VGFr0PwMDcb7-JPW0Ow-crVxFzNd66RPdsptvkayl_yJ8gIjDrgw61g-7-SmT5cd5Kf7r9_eg</recordid><startdate>201706</startdate><enddate>201706</enddate><creator>Handler, Nancy S.</creator><creator>Handler, Marc Z.</creator><creator>Stephany, Matthew P.</creator><creator>Handler, Glenn A.</creator><creator>Schwartz, Robert A.</creator><general>Blackwell Publishing Ltd</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>7U7</scope><scope>C1K</scope><scope>H94</scope><scope>7X8</scope></search><sort><creationdate>201706</creationdate><title>Porphyria cutanea tarda: an intriguing genetic disease and marker</title><author>Handler, Nancy S. ; Handler, Marc Z. ; Stephany, Matthew P. ; Handler, Glenn A. ; Schwartz, Robert A.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3530-8b649aba98da451a39a7c12e280cc779e4e2e1ea8e0be5486016469f5e1237863</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>Blistering</topic><topic>Chlorophyll</topic><topic>Contraction</topic><topic>Diagnosis</topic><topic>Diagnosis, Differential</topic><topic>Disease Progression</topic><topic>Enzymes</topic><topic>Food</topic><topic>Heme</topic><topic>Heme - biosynthesis</topic><topic>Hepatitis</topic><topic>Hepatitis C</topic><topic>HIV</topic><topic>Human immunodeficiency virus</topic><topic>Humans</topic><topic>Medical personnel</topic><topic>Photosensitivity</topic><topic>Physicians</topic><topic>Porphyria</topic><topic>Porphyria cutanea tarda</topic><topic>Porphyria Cutanea Tarda - diagnosis</topic><topic>Porphyria Cutanea Tarda - enzymology</topic><topic>Porphyria Cutanea Tarda - genetics</topic><topic>Porphyria Cutanea Tarda - therapy</topic><topic>Porphyrias, Hepatic - diagnosis</topic><topic>Risk Factors</topic><topic>Skin</topic><topic>Viruses</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Handler, Nancy S.</creatorcontrib><creatorcontrib>Handler, Marc Z.</creatorcontrib><creatorcontrib>Stephany, Matthew P.</creatorcontrib><creatorcontrib>Handler, Glenn A.</creatorcontrib><creatorcontrib>Schwartz, Robert A.</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>Toxicology Abstracts</collection><collection>Environmental Sciences and Pollution Management</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>International journal of dermatology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Handler, Nancy S.</au><au>Handler, Marc Z.</au><au>Stephany, Matthew P.</au><au>Handler, Glenn A.</au><au>Schwartz, Robert A.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Porphyria cutanea tarda: an intriguing genetic disease and marker</atitle><jtitle>International journal of dermatology</jtitle><addtitle>Int J Dermatol</addtitle><date>2017-06</date><risdate>2017</risdate><volume>56</volume><issue>6</issue><spage>e106</spage><epage>e117</epage><pages>e106-e117</pages><issn>0011-9059</issn><eissn>1365-4632</eissn><abstract>Porphyrias are a group of intriguing genetic diseases of the heme pathway, of which porphyria cutanea tarda (PCT) is the most common. Resulting from a defect in enzymes in the porphyria pathway, PCT has been linked to several conditions. Recent studies have demonstrated a change in thinking regarding the human immunodeficiency virus (HIV) and development of PCT. The exacerbation of PCT with contraction of HIV is now believed to result from coinfection from the hepatitis C virus (HCV). Blistering of sun‐exposed skin, a classic presenting sign of PCT, is not exclusive to the condition. Cutaneous findings must also trigger physicians to consider additional types of porphyrias, such as variegate porphyria. The diagnosis of pseudoporphyria, which does not result from enzymatic absence, must be considered in patients with photosensitivity and cutaneous bullae. Recent health food trends, such as chlorophyll, have been linked to pseudoporphyria. PCT is a serious condition in which accurate diagnosis is necessary for appropriate management.</abstract><cop>England</cop><pub>Blackwell Publishing Ltd</pub><pmid>28321838</pmid><doi>10.1111/ijd.13580</doi><tpages>12</tpages></addata></record> |
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| subjects | Blistering Chlorophyll Contraction Diagnosis Diagnosis, Differential Disease Progression Enzymes Food Heme Heme - biosynthesis Hepatitis Hepatitis C HIV Human immunodeficiency virus Humans Medical personnel Photosensitivity Physicians Porphyria Porphyria cutanea tarda Porphyria Cutanea Tarda - diagnosis Porphyria Cutanea Tarda - enzymology Porphyria Cutanea Tarda - genetics Porphyria Cutanea Tarda - therapy Porphyrias, Hepatic - diagnosis Risk Factors Skin Viruses |
| title | Porphyria cutanea tarda: an intriguing genetic disease and marker |
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