Clinical findings in two African‐American families with the nevoid basal cell carcinoma syndrome (NBCC)
Identifieur interne : 003579 ( Istex/Corpus ); précédent : 003578; suivant : 003580Clinical findings in two African‐American families with the nevoid basal cell carcinoma syndrome (NBCC)
Auteurs : Alisa M. Goldstein ; Berham Pastakia ; John J. Digiovanna ; Susanna Poliak ; Sandra Santucci ; Ronald Kase ; Allen E. Bale ; Sherri J. BaleSource :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1994-04-15.
English descriptors
- KwdEn :
- Anomaly, Basal, Basal cell carcinomas, Basal cell nevus syndrome, Bccs, Bifid, Bifid ribs, Bossing, Calcification, Carcinoma, Cerebri, Clinical findings, Cyst, Dermatol, Falx, Falx cerebri, Fibroma, Frontal bossing, Full expression, Gorlin, Howell, Hypertelorism, Mandibular, Mandibular cysts, Mandibular prognathism, Maxillary, Medical attention, Minimal expression, Multiple bccs, Nbcc, Nbcc cases, Nevoid, Nevoid basal cell carcinoma syndrome, Nevus, Odontogenic keratocysts, Other components, Ovarian, Ovarian fibroma, Palmar, Palmar plantar pits, Plantar, Plantar pits, Proposita, Rib, Scoliosis, Sella turcica, Skin pigmentation, Sprengel, Sprengel deformity, Surg, Syndrome, Tentorium cerebelli.
- Teeft :
- Anomaly, Basal, Basal cell carcinomas, Basal cell nevus syndrome, Bccs, Bifid, Bifid ribs, Bossing, Calcification, Carcinoma, Cerebri, Clinical findings, Cyst, Dermatol, Falx, Falx cerebri, Fibroma, Frontal bossing, Full expression, Gorlin, Howell, Hypertelorism, Mandibular, Mandibular cysts, Mandibular prognathism, Maxillary, Medical attention, Minimal expression, Multiple bccs, Nbcc, Nbcc cases, Nevoid, Nevoid basal cell carcinoma syndrome, Nevus, Odontogenic keratocysts, Other components, Ovarian, Ovarian fibroma, Palmar, Palmar plantar pits, Plantar, Plantar pits, Proposita, Rib, Scoliosis, Sella turcica, Skin pigmentation, Sprengel, Sprengel deformity, Surg, Syndrome, Tentorium cerebelli.
Abstract
The nevoid basal cell carcinoma syndrome (NBCC) is an autosomal dominant multisystem disorder with variable expressivity. We present the clinical findings on 11 African‐American NBCC cases from 2 families and a review of the literature of NBCC in African‐Americans. The 2 new families, as well as those previously reported, suggest minimal expression of the basal cell carcinomas and full expression of the other components of the syndrome. The 3 most common findings in the 11 cases were jaw cysts, palmar and/or plantar pits, and calcification of the falx cerebri. Only 44% (4/11) of these cases had one or more confirmed basal cell carcinomas. This frequency is substantially less than that observed in whites (90% with basal cell carcinomas). The relative lack of these skin tumors in African‐Americans partly reflects ultraviolet radiation protection resulting from increased skin pigmentation. Future research should help identify the specific mutation(s) in blacks as well as other modifying genes and environmental exposures that may contribute to the varied manifestations of the syndrome. © 1994 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/ajmg.1320500311
Links to Exploration step
ISTEX:6CC18CD21DDC5EE01173647C4BB91FADC4A54C6BLe document en format XML
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Bale</name><affiliation><mods:affiliation>Genetic Epidemiology Branch, National Cancer Institute, Bethseda, Maryland</mods:affiliation></affiliation><affiliation><mods:affiliation>Genetic Studies Section, Laboratory of Skin Biology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">American Journal of Medical Genetics</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title><idno type="ISSN">0148-7299</idno><idno type="eISSN">1096-8628</idno><imprint><biblScope unit="vol">50</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="272">272</biblScope><biblScope unit="page" to="281">281</biblScope><biblScope unit="page-count">10</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="1994-04-15">1994-04-15</date></imprint><idno type="ISSN">0148-7299</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0148-7299</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Anomaly</term><term>Basal</term><term>Basal cell carcinomas</term><term>Basal cell nevus syndrome</term><term>Bccs</term><term>Bifid</term><term>Bifid ribs</term><term>Bossing</term><term>Calcification</term><term>Carcinoma</term><term>Cerebri</term><term>Clinical findings</term><term>Cyst</term><term>Dermatol</term><term>Falx</term><term>Falx cerebri</term><term>Fibroma</term><term>Frontal bossing</term><term>Full expression</term><term>Gorlin</term><term>Howell</term><term>Hypertelorism</term><term>Mandibular</term><term>Mandibular cysts</term><term>Mandibular prognathism</term><term>Maxillary</term><term>Medical attention</term><term>Minimal expression</term><term>Multiple bccs</term><term>Nbcc</term><term>Nbcc cases</term><term>Nevoid</term><term>Nevoid basal cell carcinoma syndrome</term><term>Nevus</term><term>Odontogenic keratocysts</term><term>Other components</term><term>Ovarian</term><term>Ovarian fibroma</term><term>Palmar</term><term>Palmar plantar pits</term><term>Plantar</term><term>Plantar pits</term><term>Proposita</term><term>Rib</term><term>Scoliosis</term><term>Sella turcica</term><term>Skin pigmentation</term><term>Sprengel</term><term>Sprengel deformity</term><term>Surg</term><term>Syndrome</term><term>Tentorium cerebelli</term></keywords><keywords scheme="Teeft" xml:lang="en"><term>Anomaly</term><term>Basal</term><term>Basal cell carcinomas</term><term>Basal cell nevus syndrome</term><term>Bccs</term><term>Bifid</term><term>Bifid ribs</term><term>Bossing</term><term>Calcification</term><term>Carcinoma</term><term>Cerebri</term><term>Clinical findings</term><term>Cyst</term><term>Dermatol</term><term>Falx</term><term>Falx cerebri</term><term>Fibroma</term><term>Frontal bossing</term><term>Full expression</term><term>Gorlin</term><term>Howell</term><term>Hypertelorism</term><term>Mandibular</term><term>Mandibular cysts</term><term>Mandibular prognathism</term><term>Maxillary</term><term>Medical attention</term><term>Minimal expression</term><term>Multiple bccs</term><term>Nbcc</term><term>Nbcc cases</term><term>Nevoid</term><term>Nevoid basal cell carcinoma syndrome</term><term>Nevus</term><term>Odontogenic keratocysts</term><term>Other components</term><term>Ovarian</term><term>Ovarian fibroma</term><term>Palmar</term><term>Palmar plantar pits</term><term>Plantar</term><term>Plantar pits</term><term>Proposita</term><term>Rib</term><term>Scoliosis</term><term>Sella turcica</term><term>Skin pigmentation</term><term>Sprengel</term><term>Sprengel deformity</term><term>Surg</term><term>Syndrome</term><term>Tentorium cerebelli</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The nevoid basal cell carcinoma syndrome (NBCC) is an autosomal dominant multisystem disorder with variable expressivity. We present the clinical findings on 11 African‐American NBCC cases from 2 families and a review of the literature of NBCC in African‐Americans. The 2 new families, as well as those previously reported, suggest minimal expression of the basal cell carcinomas and full expression of the other components of the syndrome. The 3 most common findings in the 11 cases were jaw cysts, palmar and/or plantar pits, and calcification of the falx cerebri. Only 44% (4/11) of these cases had one or more confirmed basal cell carcinomas. This frequency is substantially less than that observed in whites (90% with basal cell carcinomas). The relative lack of these skin tumors in African‐Americans partly reflects ultraviolet radiation protection resulting from increased skin pigmentation. Future research should help identify the specific mutation(s) in blacks as well as other modifying genes and environmental exposures that may contribute to the varied manifestations of the syndrome. © 1994 Wiley‐Liss, Inc.</div></front></TEI><istex><corpusName>wiley</corpusName><keywords><teeft><json:string>cyst</json:string><json:string>nbcc</json:string><json:string>basal</json:string><json:string>palmar</json:string><json:string>bccs</json:string><json:string>mandibular</json:string><json:string>plantar</json:string><json:string>cerebri</json:string><json:string>falx</json:string><json:string>nevus</json:string><json:string>nevoid</json:string><json:string>hypertelorism</json:string><json:string>nevoid basal cell carcinoma syndrome</json:string><json:string>bifid</json:string><json:string>carcinoma</json:string><json:string>bossing</json:string><json:string>fibroma</json:string><json:string>scoliosis</json:string><json:string>ovarian</json:string><json:string>dermatol</json:string><json:string>gorlin</json:string><json:string>syndrome</json:string><json:string>maxillary</json:string><json:string>falx cerebri</json:string><json:string>clinical findings</json:string><json:string>calcification</json:string><json:string>surg</json:string><json:string>plantar pits</json:string><json:string>rib</json:string><json:string>sprengel</json:string><json:string>proposita</json:string><json:string>medical attention</json:string><json:string>mandibular cysts</json:string><json:string>anomaly</json:string><json:string>other components</json:string><json:string>nbcc cases</json:string><json:string>howell</json:string><json:string>sella turcica</json:string><json:string>frontal bossing</json:string><json:string>full expression</json:string><json:string>bifid ribs</json:string><json:string>palmar plantar pits</json:string><json:string>basal cell carcinomas</json:string><json:string>minimal expression</json:string><json:string>tentorium cerebelli</json:string><json:string>sprengel deformity</json:string><json:string>mandibular prognathism</json:string><json:string>skin pigmentation</json:string><json:string>ovarian fibroma</json:string><json:string>basal cell nevus syndrome</json:string><json:string>odontogenic keratocysts</json:string><json:string>multiple bccs</json:string></teeft></keywords><author><json:item><name>Dr. Alisa M. Goldstein</name><affiliations><json:string>Genetic Epidemiology Branch, National Cancer Institute, Bethseda, Maryland</json:string><json:string>Correspondence address: Genetic Epidemiology Branch, National Cancer Institute, Executive Plaza North, Room 439, Bethesda, MD 20892</json:string></affiliations></json:item><json:item><name>Berham Pastakia</name><affiliations><json:string>Department of Radiology, Clinical Center, Bethseda, Maryland</json:string></affiliations></json:item><json:item><name>John J. Digiovanna</name><affiliations><json:string>Dermatology Branch, National Cancer Institute, Bethseda, Maryland</json:string></affiliations></json:item><json:item><name>Susanna Poliak</name><affiliations><json:string>Dermatology Branch, National Cancer Institute, Bethseda, Maryland</json:string></affiliations></json:item><json:item><name>Sandra Santucci</name><affiliations><json:string>National Institutes of Health, Bethesda, Westat, Inc., Rockville, Maryland</json:string></affiliations></json:item><json:item><name>Ronald Kase</name><affiliations><json:string>National Institutes of Health, Bethesda, Westat, Inc., Rockville, Maryland</json:string></affiliations></json:item><json:item><name>Allen E. Bale</name><affiliations><json:string>Clinical Epidemiology Branch, National Cancer Institute, Bethseda, Maryland</json:string><json:string>Department of Genetics, Yale University School of Medicine, New Haven, Connecticut</json:string></affiliations></json:item><json:item><name>Sherri J. Bale</name><affiliations><json:string>Genetic Epidemiology Branch, National Cancer Institute, Bethseda, Maryland</json:string><json:string>Genetic Studies Section, Laboratory of Skin Biology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>nevoid basal cell carcinoma syndrome (NBCC)</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>African‐Americans</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>clinical findings</value></json:item></subject><articleId><json:string>AJMG1320500311</json:string></articleId><arkIstex>ark:/67375/WNG-69XVXBC4-F</arkIstex><language><json:string>eng</json:string></language><originalGenre><json:string>article</json:string></originalGenre><abstract>The nevoid basal cell carcinoma syndrome (NBCC) is an autosomal dominant multisystem disorder with variable expressivity. We present the clinical findings on 11 African‐American NBCC cases from 2 families and a review of the literature of NBCC in African‐Americans. The 2 new families, as well as those previously reported, suggest minimal expression of the basal cell carcinomas and full expression of the other components of the syndrome. The 3 most common findings in the 11 cases were jaw cysts, palmar and/or plantar pits, and calcification of the falx cerebri. Only 44% (4/11) of these cases had one or more confirmed basal cell carcinomas. This frequency is substantially less than that observed in whites (90% with basal cell carcinomas). The relative lack of these skin tumors in African‐Americans partly reflects ultraviolet radiation protection resulting from increased skin pigmentation. Future research should help identify the specific mutation(s) in blacks as well as other modifying genes and environmental exposures that may contribute to the varied manifestations of the syndrome. © 1994 Wiley‐Liss, Inc.</abstract><qualityIndicators><score>7.81</score><pdfWordCount>3770</pdfWordCount><pdfCharCount>26444</pdfCharCount><pdfVersion>1.3</pdfVersion><pdfPageCount>10</pdfPageCount><pdfPageSize>594 x 791.759 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractWordCount>170</abstractWordCount><abstractCharCount>1122</abstractCharCount><keywordCount>3</keywordCount></qualityIndicators><title>Clinical findings in two African‐American families with the nevoid basal cell carcinoma syndrome (NBCC)</title><pmid><json:string>8042672</json:string></pmid><genre><json:string>article</json:string></genre><host><title>American Journal of Medical Genetics</title><language><json:string>unknown</json:string></language><doi><json:string>10.1002/(ISSN)1096-8628</json:string></doi><issn><json:string>0148-7299</json:string></issn><eissn><json:string>1096-8628</json:string></eissn><publisherId><json:string>AJMG</json:string></publisherId><volume>50</volume><issue>3</issue><pages><first>272</first><last>281</last><total>10</total></pages><genre><json:string>journal</json:string></genre><subject><json:item><value>Article</value></json:item></subject></host><namedEntities><unitex><date><json:string>1994</json:string></date><geogName></geogName><orgName><json:string>Africane American NBCC</json:string><json:string>National Cancer Institute, Department of Radiology, Clinical Center</json:string><json:string>Laboratory of Skin Biology, National Institute of Arthritis</json:string><json:string>National Institutes of Health, Bethesda, Westat, Znc</json:string><json:string>Department of Genetics, Yale University School of Medicine</json:string><json:string>Wiley-Liss, Inc</json:string><json:string>African-American Families</json:string></orgName><orgName_funder></orgName_funder><orgName_provider></orgName_provider><persName><json:string>Sandra Santucci</json:string><json:string>John J. DiGiovanna</json:string><json:string>Baker Family</json:string><json:string>Ronald Kase</json:string><json:string>Arrows</json:string><json:string>Allen E. Bale</json:string><json:string>I. Review</json:string><json:string>J. Bale</json:string><json:string>Susanna Poliak</json:string><json:string>Milia Malocclusion</json:string><json:string>Published</json:string></persName><placeName><json:string>United States</json:string></placeName><ref_url></ref_url><ref_bibl><json:string>Repass and Grau 1974</json:string><json:string>Binkley and Johnson, 1951</json:string><json:string>Cotton et al., 19821</json:string><json:string>Martin and Waisman, 1978</json:string><json:string>Cotten et al.</json:string><json:string>Howell and Caro, 1959</json:string><json:string>Gailani et al., 1992</json:string><json:string>Scotto and Fkaumeni, 19821</json:string><json:string>Burket and Rauh 1976</json:string><json:string>Compton et al.</json:string><json:string>Johnson et al.</json:string><json:string>Ryan and Burkes 1973</json:string><json:string>Gorlin and Goltz, 1960</json:string><json:string>Goldstein et al.</json:string><json:string>Nichols and Solomon 1960</json:string><json:string>Anderson et al., 1967</json:string><json:string>Ellis et al. 1972</json:string><json:string>Howell and Anderson, 19821</json:string><json:string>[1987]</json:string><json:string>Farndon et al., 1992</json:string></ref_bibl><bibl></bibl></unitex></namedEntities><ark><json:string>ark:/67375/WNG-69XVXBC4-F</json:string></ark><categories><wos></wos><scienceMetrix></scienceMetrix><scopus><json:string>1 - Health Sciences</json:string><json:string>2 - Medicine</json:string><json:string>3 - Genetics(clinical)</json:string></scopus><inist><json:string>1 - sciences appliquees, technologies et medecines</json:string><json:string>2 - sciences biologiques et medicales</json:string><json:string>3 - sciences medicales</json:string><json:string>4 - techniques d'exploration et de diagnostic 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(NBCC)</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><availability><licence>Copyright © 1994 Wiley‐Liss, Inc., A Wiley Company</licence></availability><date type="published" when="1994-04-15"></date></publicationStmt><notesStmt><note type="content-type" subtype="article" source="article" scheme="https://content-type.data.istex.fr/ark:/67375/XTP-6N5SZHKN-D">article</note><note type="publication-type" subtype="journal" scheme="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</note></notesStmt><sourceDesc><biblStruct type="article"><analytic><title level="a" type="main" xml:lang="en">Clinical findings in two African‐American families with the nevoid basal cell carcinoma syndrome (NBCC)</title><title level="a" type="short" xml:lang="en">NBCC in Blacks</title><author xml:id="author-0000" role="corresp"><persName><addName>Dr.</addName><forename type="first">Alisa M.</forename><surname>Goldstein</surname></persName><affiliation>Genetic Epidemiology Branch, National Cancer Institute, Bethseda, Maryland<address><country key="US"></country></address></affiliation><affiliation>Genetic Epidemiology Branch, National Cancer Institute, Executive Plaza North, Room 439, Bethesda, MD 20892</affiliation></author><author xml:id="author-0001"><persName><forename type="first">Berham</forename><surname>Pastakia</surname></persName><affiliation>Department of Radiology, Clinical Center, Bethseda, Maryland<address><country key="US"></country></address></affiliation></author><author xml:id="author-0002"><persName><forename type="first">John J.</forename><surname>Digiovanna</surname></persName><affiliation>Dermatology Branch, National Cancer Institute, Bethseda, Maryland<address><country key="US"></country></address></affiliation></author><author xml:id="author-0003"><persName><forename type="first">Susanna</forename><surname>Poliak</surname></persName><affiliation>Dermatology Branch, National Cancer Institute, Bethseda, Maryland<address><country key="US"></country></address></affiliation></author><author xml:id="author-0004"><persName><forename type="first">Sandra</forename><surname>Santucci</surname></persName><affiliation>National Institutes of Health, Bethesda, Westat, Inc., Rockville, Maryland<address><country key="US"></country></address></affiliation></author><author xml:id="author-0005"><persName><forename type="first">Ronald</forename><surname>Kase</surname></persName><affiliation>National Institutes of Health, Bethesda, Westat, Inc., Rockville, Maryland<address><country key="US"></country></address></affiliation></author><author xml:id="author-0006"><persName><forename type="first">Allen E.</forename><surname>Bale</surname></persName><affiliation>Clinical Epidemiology Branch, National Cancer Institute, Bethseda, Maryland<address><country key="US"></country></address></affiliation><affiliation>Department of Genetics, Yale University School of Medicine, New Haven, Connecticut<address><country key="US"></country></address></affiliation></author><author xml:id="author-0007"><persName><forename type="first">Sherri J.</forename><surname>Bale</surname></persName><affiliation>Genetic Epidemiology Branch, National Cancer Institute, Bethseda, Maryland<address><country key="US"></country></address></affiliation><affiliation>Genetic Studies Section, Laboratory of Skin Biology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland<address><country key="US"></country></address></affiliation></author><idno type="istex">6CC18CD21DDC5EE01173647C4BB91FADC4A54C6B</idno><idno type="ark">ark:/67375/WNG-69XVXBC4-F</idno><idno type="DOI">10.1002/ajmg.1320500311</idno><idno type="unit">AJMG1320500311</idno><idno type="toTypesetVersion">file:AJMG.AJMG1320500311.pdf</idno></analytic><monogr><title level="j" type="main">American Journal of Medical Genetics</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title><idno type="pISSN">0148-7299</idno><idno type="eISSN">1096-8628</idno><idno type="book-DOI">10.1002/(ISSN)1096-8628</idno><idno type="book-part-DOI">10.1002/ajmg.v50:3</idno><idno type="product">AJMG</idno><imprint><biblScope unit="vol">50</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="272">272</biblScope><biblScope unit="page" to="281">281</biblScope><biblScope unit="page-count">10</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="1994-04-15"></date></imprint></monogr></biblStruct></sourceDesc></fileDesc><profileDesc><abstract xml:lang="en" style="main"><head>Abstract</head><p>The nevoid basal cell carcinoma syndrome (NBCC) is an autosomal dominant multisystem disorder with variable expressivity. We present the clinical findings on 11 African‐American NBCC cases from 2 families and a review of the literature of NBCC in African‐Americans. The 2 new families, as well as those previously reported, suggest minimal expression of the basal cell carcinomas and full expression of the other components of the syndrome. The 3 most common findings in the 11 cases were jaw cysts, palmar and/or plantar pits, and calcification of the falx cerebri. Only 44% (4/11) of these cases had one or more confirmed basal cell carcinomas. This frequency is substantially less than that observed in whites (90% with basal cell carcinomas). The relative lack of these skin tumors in African‐Americans partly reflects ultraviolet radiation protection resulting from increased skin pigmentation. Future research should help identify the specific mutation(s) in blacks as well as other modifying genes and environmental exposures that may contribute to the varied manifestations of the syndrome. © 1994 Wiley‐Liss, Inc.</p></abstract><textClass><keywords xml:lang="en"><term xml:id="kwd1">nevoid basal cell carcinoma syndrome (NBCC)</term><term xml:id="kwd2">African‐Americans</term><term xml:id="kwd3">clinical findings</term></keywords><keywords rend="articleCategory"><term>Article</term></keywords><keywords rend="tocHeading1"><term>Articles</term></keywords></textClass><langUsage><language ident="en"></language></langUsage></profileDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/6CC18CD21DDC5EE01173647C4BB91FADC4A54C6B/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>New York</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1096-8628</doi><issn type="print">0148-7299</issn><issn type="electronic">1096-8628</issn><idGroup><id type="product" value="AJMG"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="AMERICAN JOURNAL OF MEDICAL GENETICS">American Journal of Medical Genetics</title><title type="short">Am. 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Musculoskeletal and Skin Diseases, Bethesda, Maryland</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">nevoid basal cell carcinoma syndrome (NBCC)</keyword><keyword xml:id="kwd2">African‐Americans</keyword><keyword xml:id="kwd3">clinical findings</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>The nevoid basal cell carcinoma syndrome (NBCC) is an autosomal dominant multisystem disorder with variable expressivity. We present the clinical findings on 11 African‐American NBCC cases from 2 families and a review of the literature of NBCC in African‐Americans. The 2 new families, as well as those previously reported, suggest minimal expression of the basal cell carcinomas and full expression of the other components of the syndrome. The 3 most common findings in the 11 cases were jaw cysts, palmar and/or plantar pits, and calcification of the falx cerebri. Only 44% (4/11) of these cases had one or more confirmed basal cell carcinomas. This frequency is substantially less than that observed in whites (90% with basal cell carcinomas). The relative lack of these skin tumors in African‐Americans partly reflects ultraviolet radiation protection resulting from increased skin pigmentation. Future research should help identify the specific mutation(s) in blacks as well as other modifying genes and environmental exposures that may contribute to the varied manifestations of the syndrome. © 1994 Wiley‐Liss, Inc.</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Clinical findings in two African‐American families with the nevoid basal cell carcinoma syndrome (NBCC)</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>NBCC in Blacks</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Clinical findings in two African‐American families with the nevoid basal cell carcinoma syndrome (NBCC)</title></titleInfo><name type="personal"><namePart type="termsOfAddress">Dr.</namePart><namePart type="given">Alisa M.</namePart><namePart type="family">Goldstein</namePart><affiliation>Genetic Epidemiology Branch, National Cancer Institute, Bethseda, Maryland</affiliation><affiliation>Correspondence address: Genetic Epidemiology Branch, National Cancer Institute, Executive Plaza North, Room 439, Bethesda, MD 20892</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Berham</namePart><namePart type="family">Pastakia</namePart><affiliation>Department of Radiology, Clinical Center, Bethseda, Maryland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">John J.</namePart><namePart type="family">Digiovanna</namePart><affiliation>Dermatology Branch, National Cancer Institute, Bethseda, Maryland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Susanna</namePart><namePart type="family">Poliak</namePart><affiliation>Dermatology Branch, National Cancer Institute, Bethseda, Maryland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Sandra</namePart><namePart type="family">Santucci</namePart><affiliation>National Institutes of Health, Bethesda, Westat, Inc., Rockville, Maryland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ronald</namePart><namePart type="family">Kase</namePart><affiliation>National Institutes of Health, Bethesda, Westat, Inc., Rockville, Maryland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Allen E.</namePart><namePart type="family">Bale</namePart><affiliation>Clinical Epidemiology Branch, National Cancer Institute, Bethseda, Maryland</affiliation><affiliation>Department of Genetics, Yale University School of Medicine, New Haven, Connecticut</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Sherri J.</namePart><namePart type="family">Bale</namePart><affiliation>Genetic Epidemiology Branch, National Cancer Institute, Bethseda, Maryland</affiliation><affiliation>Genetic Studies Section, Laboratory of Skin Biology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article" authority="ISTEX" authorityURI="https://content-type.data.istex.fr" valueURI="https://content-type.data.istex.fr/ark:/67375/XTP-6N5SZHKN-D">article</genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">New York</placeTerm></place><dateIssued encoding="w3cdtf">1994-04-15</dateIssued><dateCaptured encoding="w3cdtf">1993-08-03</dateCaptured><copyrightDate encoding="w3cdtf">1994</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><extent unit="figures">1</extent><extent unit="tables">4</extent><extent unit="references">31</extent></physicalDescription><abstract lang="en">The nevoid basal cell carcinoma syndrome (NBCC) is an autosomal dominant multisystem disorder with variable expressivity. We present the clinical findings on 11 African‐American NBCC cases from 2 families and a review of the literature of NBCC in African‐Americans. The 2 new families, as well as those previously reported, suggest minimal expression of the basal cell carcinomas and full expression of the other components of the syndrome. The 3 most common findings in the 11 cases were jaw cysts, palmar and/or plantar pits, and calcification of the falx cerebri. Only 44% (4/11) of these cases had one or more confirmed basal cell carcinomas. This frequency is substantially less than that observed in whites (90% with basal cell carcinomas). The relative lack of these skin tumors in African‐Americans partly reflects ultraviolet radiation protection resulting from increased skin pigmentation. Future research should help identify the specific mutation(s) in blacks as well as other modifying genes and environmental exposures that may contribute to the varied manifestations of the syndrome. © 1994 Wiley‐Liss, Inc.</abstract><subject lang="en"><genre>keywords</genre><topic>nevoid basal cell carcinoma syndrome (NBCC)</topic><topic>African‐Americans</topic><topic>clinical findings</topic></subject><relatedItem type="host"><titleInfo><title>American Journal of Medical Genetics</title></titleInfo><titleInfo type="abbreviated"><title>Am. J. Med. 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