A Japanese Family with Multiple Lung Cysts and Recurrent Pneumothorax: A Possibility of Birt-Hogg-Dubé Syndrome
We herein report a Japanese family lineage, possibly demonstrating Birt-Hogg-Dubé (BHD) syndrome. A 29-year-old nonsmoking woman was admitted to our hospital due to spontaneous pneumothorax. A chest CT showed multiple lung cysts, and breast cancer was simultaneously detected that needed priority sur...
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| Veröffentlicht in: | Internal Medicine 2009, Vol.48(16), pp.1413-1417 |
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| container_title | Internal Medicine |
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| creator | Ishii, Hiroshi Oka, Hiroaki Amemiya, Yuka Iwata, Atsuko Otani, Satoshi Kishi, Kenji Shirai, Ryo Tokimatsu, Issei Kawahara, Katsunobu Kadota, Jun-ichi |
| description | We herein report a Japanese family lineage, possibly demonstrating Birt-Hogg-Dubé (BHD) syndrome. A 29-year-old nonsmoking woman was admitted to our hospital due to spontaneous pneumothorax. A chest CT showed multiple lung cysts, and breast cancer was simultaneously detected that needed priority surgical treatment. In the family history, the patient's father and half brother also experienced recurrent pneumothorax, and both had similar findings in their chest CT. In a genetic analysis of her half brother, the mutation of the BHD gene was identified. BHD syndrome is a rare autosomal and dominantly inherited disorder, which has three characteristics: multiple lung cysts that may be associated with pneumothorax, skin fibrofolliculomas, and renal neoplasm. For multiple-cystic disease of the lungs with an unknown etiology, or pneumothorax, as seen in a family history, it is necessary to consider the possibility of BHD syndrome. |
| doi_str_mv | 10.2169/internalmedicine.48.2144 |
| format | Article |
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A 29-year-old nonsmoking woman was admitted to our hospital due to spontaneous pneumothorax. A chest CT showed multiple lung cysts, and breast cancer was simultaneously detected that needed priority surgical treatment. In the family history, the patient's father and half brother also experienced recurrent pneumothorax, and both had similar findings in their chest CT. In a genetic analysis of her half brother, the mutation of the BHD gene was identified. BHD syndrome is a rare autosomal and dominantly inherited disorder, which has three characteristics: multiple lung cysts that may be associated with pneumothorax, skin fibrofolliculomas, and renal neoplasm. For multiple-cystic disease of the lungs with an unknown etiology, or pneumothorax, as seen in a family history, it is necessary to consider the possibility of BHD syndrome.</description><identifier>ISSN: 0918-2918</identifier><identifier>EISSN: 1349-7235</identifier><identifier>DOI: 10.2169/internalmedicine.48.2144</identifier><identifier>PMID: 19687589</identifier><language>eng</language><publisher>Japan: The Japanese Society of Internal Medicine</publisher><subject>Adult ; Asian Continental Ancestry Group - genetics ; cystic lung disease ; Cysts - diagnosis ; Cysts - genetics ; family history ; Female ; Humans ; Lung Diseases - diagnosis ; Lung Diseases - genetics ; Pedigree ; Pneumothorax - diagnosis ; Pneumothorax - genetics ; Proto-Oncogene Proteins - genetics ; Recurrence ; spontaneous pneumothorax ; Syndrome ; Tumor Suppressor Proteins - genetics</subject><ispartof>Internal Medicine, 2009, Vol.48(16), pp.1413-1417</ispartof><rights>2009 by The Japanese Society of Internal Medicine</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c526t-e895e599e977ef7d16625e459577a648eacf69876406c24a739458a2ac87d0bc3</citedby><cites>FETCH-LOGICAL-c526t-e895e599e977ef7d16625e459577a648eacf69876406c24a739458a2ac87d0bc3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,1881,27923,27924</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/19687589$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Ishii, Hiroshi</creatorcontrib><creatorcontrib>Oka, Hiroaki</creatorcontrib><creatorcontrib>Amemiya, Yuka</creatorcontrib><creatorcontrib>Iwata, Atsuko</creatorcontrib><creatorcontrib>Otani, Satoshi</creatorcontrib><creatorcontrib>Kishi, Kenji</creatorcontrib><creatorcontrib>Shirai, Ryo</creatorcontrib><creatorcontrib>Tokimatsu, Issei</creatorcontrib><creatorcontrib>Kawahara, Katsunobu</creatorcontrib><creatorcontrib>Kadota, Jun-ichi</creatorcontrib><title>A Japanese Family with Multiple Lung Cysts and Recurrent Pneumothorax: A Possibility of Birt-Hogg-Dubé Syndrome</title><title>Internal Medicine</title><addtitle>Intern. Med.</addtitle><description>We herein report a Japanese family lineage, possibly demonstrating Birt-Hogg-Dubé (BHD) syndrome. A 29-year-old nonsmoking woman was admitted to our hospital due to spontaneous pneumothorax. A chest CT showed multiple lung cysts, and breast cancer was simultaneously detected that needed priority surgical treatment. In the family history, the patient's father and half brother also experienced recurrent pneumothorax, and both had similar findings in their chest CT. In a genetic analysis of her half brother, the mutation of the BHD gene was identified. BHD syndrome is a rare autosomal and dominantly inherited disorder, which has three characteristics: multiple lung cysts that may be associated with pneumothorax, skin fibrofolliculomas, and renal neoplasm. For multiple-cystic disease of the lungs with an unknown etiology, or pneumothorax, as seen in a family history, it is necessary to consider the possibility of BHD syndrome.</description><subject>Adult</subject><subject>Asian Continental Ancestry Group - genetics</subject><subject>cystic lung disease</subject><subject>Cysts - diagnosis</subject><subject>Cysts - genetics</subject><subject>family history</subject><subject>Female</subject><subject>Humans</subject><subject>Lung Diseases - diagnosis</subject><subject>Lung Diseases - genetics</subject><subject>Pedigree</subject><subject>Pneumothorax - diagnosis</subject><subject>Pneumothorax - genetics</subject><subject>Proto-Oncogene Proteins - genetics</subject><subject>Recurrence</subject><subject>spontaneous pneumothorax</subject><subject>Syndrome</subject><subject>Tumor Suppressor Proteins - genetics</subject><issn>0918-2918</issn><issn>1349-7235</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNptkM1u1DAUhS0EokPhFZB3rFLi-J_dMKUUNKgVP2vL49zMuHKcYDuCPBLPwYuRakZFQmzOXZzvnqt7EMKkvmiI0K99LJCiDT203vkIF0wtBmOP0IpQpivZUP4YrWpNVNUscoae5XxX11RJ3TxFZ0QLJbnSKzSu8Uc72ggZ8JXtfZjxD18O-NMUih8D4O0U93gz55KxjS3-DG5KCWLBtxGmfiiHIdmfb_Aa3w45-50Pvsx46PBbn0p1Pez31eW0-_0Lf5ljm4YenqMnnQ0ZXpzmOfp29e7r5rra3rz_sFlvK8cbUSpQmgPXGrSU0MmWCNFwYFxzKa1gCqzrhFZSsFq4hllJNePKNtYp2dY7R8_Rq2PumIbvE-Riep8dhLD8OkzZSEp1vYhYSHUkXVpeSNCZMfneptmQ2tzXbf6t2zBl7uteVl-ejky7xfy7eOp3AW6OwF0udg8PgE3FuwD_TSbipIQR-kC6g00GIv0DEvOfYw</recordid><startdate>20090101</startdate><enddate>20090101</enddate><creator>Ishii, Hiroshi</creator><creator>Oka, Hiroaki</creator><creator>Amemiya, Yuka</creator><creator>Iwata, Atsuko</creator><creator>Otani, Satoshi</creator><creator>Kishi, Kenji</creator><creator>Shirai, Ryo</creator><creator>Tokimatsu, Issei</creator><creator>Kawahara, Katsunobu</creator><creator>Kadota, Jun-ichi</creator><general>The Japanese Society of Internal Medicine</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>7X8</scope></search><sort><creationdate>20090101</creationdate><title>A Japanese Family with Multiple Lung Cysts and Recurrent Pneumothorax: A Possibility of Birt-Hogg-Dubé Syndrome</title><author>Ishii, Hiroshi ; Oka, Hiroaki ; Amemiya, Yuka ; Iwata, Atsuko ; Otani, Satoshi ; Kishi, Kenji ; Shirai, Ryo ; Tokimatsu, Issei ; Kawahara, Katsunobu ; Kadota, Jun-ichi</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c526t-e895e599e977ef7d16625e459577a648eacf69876406c24a739458a2ac87d0bc3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>Adult</topic><topic>Asian Continental Ancestry Group - genetics</topic><topic>cystic lung disease</topic><topic>Cysts - diagnosis</topic><topic>Cysts - genetics</topic><topic>family history</topic><topic>Female</topic><topic>Humans</topic><topic>Lung Diseases - diagnosis</topic><topic>Lung Diseases - genetics</topic><topic>Pedigree</topic><topic>Pneumothorax - diagnosis</topic><topic>Pneumothorax - genetics</topic><topic>Proto-Oncogene Proteins - genetics</topic><topic>Recurrence</topic><topic>spontaneous pneumothorax</topic><topic>Syndrome</topic><topic>Tumor Suppressor Proteins - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ishii, Hiroshi</creatorcontrib><creatorcontrib>Oka, Hiroaki</creatorcontrib><creatorcontrib>Amemiya, Yuka</creatorcontrib><creatorcontrib>Iwata, Atsuko</creatorcontrib><creatorcontrib>Otani, Satoshi</creatorcontrib><creatorcontrib>Kishi, Kenji</creatorcontrib><creatorcontrib>Shirai, Ryo</creatorcontrib><creatorcontrib>Tokimatsu, Issei</creatorcontrib><creatorcontrib>Kawahara, Katsunobu</creatorcontrib><creatorcontrib>Kadota, Jun-ichi</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Internal Medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ishii, Hiroshi</au><au>Oka, Hiroaki</au><au>Amemiya, Yuka</au><au>Iwata, Atsuko</au><au>Otani, Satoshi</au><au>Kishi, Kenji</au><au>Shirai, Ryo</au><au>Tokimatsu, Issei</au><au>Kawahara, Katsunobu</au><au>Kadota, Jun-ichi</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A Japanese Family with Multiple Lung Cysts and Recurrent Pneumothorax: A Possibility of Birt-Hogg-Dubé Syndrome</atitle><jtitle>Internal Medicine</jtitle><addtitle>Intern. Med.</addtitle><date>2009-01-01</date><risdate>2009</risdate><volume>48</volume><issue>16</issue><spage>1413</spage><epage>1417</epage><pages>1413-1417</pages><issn>0918-2918</issn><eissn>1349-7235</eissn><abstract>We herein report a Japanese family lineage, possibly demonstrating Birt-Hogg-Dubé (BHD) syndrome. A 29-year-old nonsmoking woman was admitted to our hospital due to spontaneous pneumothorax. A chest CT showed multiple lung cysts, and breast cancer was simultaneously detected that needed priority surgical treatment. In the family history, the patient's father and half brother also experienced recurrent pneumothorax, and both had similar findings in their chest CT. In a genetic analysis of her half brother, the mutation of the BHD gene was identified. BHD syndrome is a rare autosomal and dominantly inherited disorder, which has three characteristics: multiple lung cysts that may be associated with pneumothorax, skin fibrofolliculomas, and renal neoplasm. For multiple-cystic disease of the lungs with an unknown etiology, or pneumothorax, as seen in a family history, it is necessary to consider the possibility of BHD syndrome.</abstract><cop>Japan</cop><pub>The Japanese Society of Internal Medicine</pub><pmid>19687589</pmid><doi>10.2169/internalmedicine.48.2144</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adult Asian Continental Ancestry Group - genetics cystic lung disease Cysts - diagnosis Cysts - genetics family history Female Humans Lung Diseases - diagnosis Lung Diseases - genetics Pedigree Pneumothorax - diagnosis Pneumothorax - genetics Proto-Oncogene Proteins - genetics Recurrence spontaneous pneumothorax Syndrome Tumor Suppressor Proteins - genetics |
| title | A Japanese Family with Multiple Lung Cysts and Recurrent Pneumothorax: A Possibility of Birt-Hogg-Dubé Syndrome |
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