Pigmentation phenotype, photosensitivity and skin neoplasms in patients with myotonic dystrophy

Background and purpose Recent studies have suggested a possible excess risk of skin neoplasms in patients with myotonic dystrophy (DM). Risk factors related to this observation have not been defined. Method Information regarding personal history of skin tumors, pigmentation phenotype, and skin react...

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Veröffentlicht in:European journal of neurology 2017-05, Vol.24 (5), p.713-718
Hauptverfasser: Gadalla, S. M., Hilbert, J. E., Martens, W. B., Givens, S., Moxley, R. T., Greene, M. H.
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container_end_page 718
container_issue 5
container_start_page 713
container_title European journal of neurology
container_volume 24
creator Gadalla, S. M.
Hilbert, J. E.
Martens, W. B.
Givens, S.
Moxley, R. T.
Greene, M. H.
description Background and purpose Recent studies have suggested a possible excess risk of skin neoplasms in patients with myotonic dystrophy (DM). Risk factors related to this observation have not been defined. Method Information regarding personal history of skin tumors, pigmentation phenotype, and skin reaction to sun exposure were collected from 266 DM patients who were enrolled in the US National Institutes of Health National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients and Family Members. Results Seventy‐seven subjects reported having skin tumors that were either benign (n = 31), malignant (n = 32) or both (n = 14). Female gender [odds ratio (OR) = 2.27, 95% confidence interval (CI) 1.02–5.05, P = 0.04], older age (OR = 1.10, 95% CI 1.05–1.16, P < 0.001) and DM1 subtype (OR = 3.42, 95% CI 1.27–9.26, P = 0.02) were associated with a malignant skin tumor. The associations between malignant skin tumors and known risk factors [light eye color (OR = 1.62, 95% CI 0.78–3.39, P = 0.20), light skin complexion (OR = 1.31, 95% CI 0.63–2.73, P = 0.48) and moderate/extensive face freckles (OR = 1.47, 95% CI 0.50–4.34, P = 0.49)] were modest. Strong, but not statistically significant, associations were noted with sunburn reactions when exposed to sunlight (OR = 4.28, 95% CI 0.91–19.95, P = 0.06, and OR = 2.19, 95% CI 0.67–7.09, P = 0.19, for sunburn with and without blistering, respectively). Conclusions Although our study was limited by small sample size, the risk factors for malignant skin tumors in DM strongly resemble the general population. It is recommended that DM patients adhere to sun exposure protective behavior.
doi_str_mv 10.1111/ene.13276
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M. ; Hilbert, J. E. ; Martens, W. B. ; Givens, S. ; Moxley, R. T. ; Greene, M. H.</creator><creatorcontrib>Gadalla, S. M. ; Hilbert, J. E. ; Martens, W. B. ; Givens, S. ; Moxley, R. T. ; Greene, M. H.</creatorcontrib><description>Background and purpose Recent studies have suggested a possible excess risk of skin neoplasms in patients with myotonic dystrophy (DM). Risk factors related to this observation have not been defined. Method Information regarding personal history of skin tumors, pigmentation phenotype, and skin reaction to sun exposure were collected from 266 DM patients who were enrolled in the US National Institutes of Health National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients and Family Members. Results Seventy‐seven subjects reported having skin tumors that were either benign (n = 31), malignant (n = 32) or both (n = 14). Female gender [odds ratio (OR) = 2.27, 95% confidence interval (CI) 1.02–5.05, P = 0.04], older age (OR = 1.10, 95% CI 1.05–1.16, P &lt; 0.001) and DM1 subtype (OR = 3.42, 95% CI 1.27–9.26, P = 0.02) were associated with a malignant skin tumor. The associations between malignant skin tumors and known risk factors [light eye color (OR = 1.62, 95% CI 0.78–3.39, P = 0.20), light skin complexion (OR = 1.31, 95% CI 0.63–2.73, P = 0.48) and moderate/extensive face freckles (OR = 1.47, 95% CI 0.50–4.34, P = 0.49)] were modest. Strong, but not statistically significant, associations were noted with sunburn reactions when exposed to sunlight (OR = 4.28, 95% CI 0.91–19.95, P = 0.06, and OR = 2.19, 95% CI 0.67–7.09, P = 0.19, for sunburn with and without blistering, respectively). Conclusions Although our study was limited by small sample size, the risk factors for malignant skin tumors in DM strongly resemble the general population. It is recommended that DM patients adhere to sun exposure protective behavior.</description><identifier>ISSN: 1351-5101</identifier><identifier>EISSN: 1468-1331</identifier><identifier>DOI: 10.1111/ene.13276</identifier><identifier>PMID: 28317292</identifier><identifier>CODEN: EJNEFL</identifier><language>eng</language><publisher>England: John Wiley &amp; Sons, Inc</publisher><subject>Adolescent ; Adult ; Aged ; Aged, 80 and over ; cancer ; Comorbidity ; Female ; Genotype &amp; phenotype ; Humans ; Male ; Melanosis - epidemiology ; Middle Aged ; myotonic dystrophy ; Myotonic Dystrophy - epidemiology ; Phenotype ; Registries ; repeat expansion size ; Risk Factors ; skin ; Skin Neoplasms - epidemiology ; Skin Pigmentation - physiology ; Sunburn - epidemiology ; Tumors ; Young Adult</subject><ispartof>European journal of neurology, 2017-05, Vol.24 (5), p.713-718</ispartof><rights>Published 2017. This article is a U.S. Government work and is in the public domain in the USA.</rights><rights>2017 European Federation of Neurological Societies</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4766-882a473ef68b8e60f7f38bcc515c7c1b37205d342a3268bfa91ae66093749c123</citedby><cites>FETCH-LOGICAL-c4766-882a473ef68b8e60f7f38bcc515c7c1b37205d342a3268bfa91ae66093749c123</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%2Fene.13276$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fene.13276$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>230,314,780,784,885,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/28317292$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Gadalla, S. M.</creatorcontrib><creatorcontrib>Hilbert, J. E.</creatorcontrib><creatorcontrib>Martens, W. B.</creatorcontrib><creatorcontrib>Givens, S.</creatorcontrib><creatorcontrib>Moxley, R. T.</creatorcontrib><creatorcontrib>Greene, M. H.</creatorcontrib><title>Pigmentation phenotype, photosensitivity and skin neoplasms in patients with myotonic dystrophy</title><title>European journal of neurology</title><addtitle>Eur J Neurol</addtitle><description>Background and purpose Recent studies have suggested a possible excess risk of skin neoplasms in patients with myotonic dystrophy (DM). Risk factors related to this observation have not been defined. Method Information regarding personal history of skin tumors, pigmentation phenotype, and skin reaction to sun exposure were collected from 266 DM patients who were enrolled in the US National Institutes of Health National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients and Family Members. Results Seventy‐seven subjects reported having skin tumors that were either benign (n = 31), malignant (n = 32) or both (n = 14). Female gender [odds ratio (OR) = 2.27, 95% confidence interval (CI) 1.02–5.05, P = 0.04], older age (OR = 1.10, 95% CI 1.05–1.16, P &lt; 0.001) and DM1 subtype (OR = 3.42, 95% CI 1.27–9.26, P = 0.02) were associated with a malignant skin tumor. The associations between malignant skin tumors and known risk factors [light eye color (OR = 1.62, 95% CI 0.78–3.39, P = 0.20), light skin complexion (OR = 1.31, 95% CI 0.63–2.73, P = 0.48) and moderate/extensive face freckles (OR = 1.47, 95% CI 0.50–4.34, P = 0.49)] were modest. Strong, but not statistically significant, associations were noted with sunburn reactions when exposed to sunlight (OR = 4.28, 95% CI 0.91–19.95, P = 0.06, and OR = 2.19, 95% CI 0.67–7.09, P = 0.19, for sunburn with and without blistering, respectively). Conclusions Although our study was limited by small sample size, the risk factors for malignant skin tumors in DM strongly resemble the general population. 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H.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Pigmentation phenotype, photosensitivity and skin neoplasms in patients with myotonic dystrophy</atitle><jtitle>European journal of neurology</jtitle><addtitle>Eur J Neurol</addtitle><date>2017-05</date><risdate>2017</risdate><volume>24</volume><issue>5</issue><spage>713</spage><epage>718</epage><pages>713-718</pages><issn>1351-5101</issn><eissn>1468-1331</eissn><coden>EJNEFL</coden><abstract>Background and purpose Recent studies have suggested a possible excess risk of skin neoplasms in patients with myotonic dystrophy (DM). Risk factors related to this observation have not been defined. Method Information regarding personal history of skin tumors, pigmentation phenotype, and skin reaction to sun exposure were collected from 266 DM patients who were enrolled in the US National Institutes of Health National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients and Family Members. Results Seventy‐seven subjects reported having skin tumors that were either benign (n = 31), malignant (n = 32) or both (n = 14). Female gender [odds ratio (OR) = 2.27, 95% confidence interval (CI) 1.02–5.05, P = 0.04], older age (OR = 1.10, 95% CI 1.05–1.16, P &lt; 0.001) and DM1 subtype (OR = 3.42, 95% CI 1.27–9.26, P = 0.02) were associated with a malignant skin tumor. The associations between malignant skin tumors and known risk factors [light eye color (OR = 1.62, 95% CI 0.78–3.39, P = 0.20), light skin complexion (OR = 1.31, 95% CI 0.63–2.73, P = 0.48) and moderate/extensive face freckles (OR = 1.47, 95% CI 0.50–4.34, P = 0.49)] were modest. Strong, but not statistically significant, associations were noted with sunburn reactions when exposed to sunlight (OR = 4.28, 95% CI 0.91–19.95, P = 0.06, and OR = 2.19, 95% CI 0.67–7.09, P = 0.19, for sunburn with and without blistering, respectively). Conclusions Although our study was limited by small sample size, the risk factors for malignant skin tumors in DM strongly resemble the general population. It is recommended that DM patients adhere to sun exposure protective behavior.</abstract><cop>England</cop><pub>John Wiley &amp; Sons, Inc</pub><pmid>28317292</pmid><doi>10.1111/ene.13276</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record>
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subjects Adolescent
Adult
Aged
Aged, 80 and over
cancer
Comorbidity
Female
Genotype & phenotype
Humans
Male
Melanosis - epidemiology
Middle Aged
myotonic dystrophy
Myotonic Dystrophy - epidemiology
Phenotype
Registries
repeat expansion size
Risk Factors
skin
Skin Neoplasms - epidemiology
Skin Pigmentation - physiology
Sunburn - epidemiology
Tumors
Young Adult
title Pigmentation phenotype, photosensitivity and skin neoplasms in patients with myotonic dystrophy
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