A case of pachyonychia congenita with unusual manifestations: an unusual type or a new syndrome?
Identifieur interne : 000460 ( PubMed/Checkpoint ); précédent : 000459; suivant : 000461A case of pachyonychia congenita with unusual manifestations: an unusual type or a new syndrome?
Auteurs : Müzeyyen Gönül [Turquie] ; Ülker Gül ; Arzu K L Ç ; Seçil Soylu ; O Uzhan Koçak ; Murat DemirizSource :
- International journal of dermatology [ 1365-4632 ] ; 2015.
Descripteurs français
- KwdFr :
- Adulte, Bouche édentée (diagnostic), Carcinome épidermoïde (diagnostic), Déficience intellectuelle (diagnostic), Humains, Kyste épidermique (diagnostic), Kératines (génétique), Kératose (diagnostic), Leucoplasie buccale (diagnostic), Mâle, Pachyonychie congénitale (diagnostic), Pachyonychie congénitale (génétique), Syndrome, Tumeurs de la lèvre (diagnostic), Ulcère buccal (diagnostic).
- MESH :
English descriptors
- KwdEn :
- Adult, Carcinoma, Squamous Cell (diagnosis), Epidermal Cyst (diagnosis), Humans, Intellectual Disability (diagnosis), Keratins (genetics), Keratosis (diagnosis), Leukoplakia, Oral (diagnosis), Lip Neoplasms (diagnosis), Male, Mouth, Edentulous (diagnosis), Oral Ulcer (diagnosis), Pachyonychia Congenita (diagnosis), Pachyonychia Congenita (genetics), Syndrome.
- MESH :
- chemical , genetics : Keratins.
- diagnosis : Carcinoma, Squamous Cell, Epidermal Cyst, Intellectual Disability, Keratosis, Leukoplakia, Oral, Lip Neoplasms, Mouth, Edentulous, Oral Ulcer, Pachyonychia Congenita.
- genetics : Pachyonychia Congenita.
- Adult, Humans, Male, Syndrome.
Abstract
A 30-year-old man presented with lesions on his oral mucosa and soles. There were no similar complaints in his family members. The dermatological examination revealed follicular hyperkeratosis on his trunk and upper extremities and flesh-colored, firm cystic lesions on his axillae. He had focal, painful, hyperkeratotic areas sited particularly on both his soles and palms. In addition to these, leukokeratosis and ulcerative areas on buccal, labial mucosa, tongue, and at corners of the mouth, and complete loss of teeth was observed. The proximal layering was revealed on all of his nails. The laboratory investigations produced normal results except the deficiency of immunoglobulin A. The psychiatric examination revealed mild mental retardation. Keratin gene (KRT6a, KRT6b, KRT16, and KRT17) mutations for pachyonychia congenita were negative. He got removable dental prosthesis because of inadequate alimentation. Squamous cell cancer developed on lower lip mucosa during follow-up. We present an individual who had different nail dystrophy, epidermal cysts, mental retardation, blepharitis, complete loss of teeth, and negative keratin gene mutations for pachyonychia congenita and developed squamous cell cancer on the oral leukokeratosis lesions. We think that the present case may be an unusual new type of pachyonychia congenita.
DOI: 10.1111/j.1365-4632.2012.05851.x
PubMed: 25713981
Affiliations:
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last="Soylu">Seçil Soylu</name></author><author><name sortKey="Kocak, O Uzhan" sort="Kocak, O Uzhan" uniqKey="Kocak O" first="O Uzhan" last="Koçak">O Uzhan Koçak</name></author><author><name sortKey="Demiriz, Murat" sort="Demiriz, Murat" uniqKey="Demiriz M" first="Murat" last="Demiriz">Murat Demiriz</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2015">2015</date><idno type="RBID">pubmed:25713981</idno><idno type="pmid">25713981</idno><idno type="doi">10.1111/j.1365-4632.2012.05851.x</idno><idno type="wicri:Area/PubMed/Corpus">000494</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000494</idno><idno type="wicri:Area/PubMed/Curation">000494</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000494</idno><idno type="wicri:Area/PubMed/Checkpoint">000494</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" 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sort="Soylu, Secil" uniqKey="Soylu S" first="Seçil" last="Soylu">Seçil Soylu</name></author><author><name sortKey="Kocak, O Uzhan" sort="Kocak, O Uzhan" uniqKey="Kocak O" first="O Uzhan" last="Koçak">O Uzhan Koçak</name></author><author><name sortKey="Demiriz, Murat" sort="Demiriz, Murat" uniqKey="Demiriz M" first="Murat" last="Demiriz">Murat Demiriz</name></author></analytic><series><title level="j">International journal of dermatology</title><idno type="eISSN">1365-4632</idno><imprint><date when="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Carcinoma, Squamous Cell (diagnosis)</term><term>Epidermal Cyst (diagnosis)</term><term>Humans</term><term>Intellectual Disability (diagnosis)</term><term>Keratins (genetics)</term><term>Keratosis (diagnosis)</term><term>Leukoplakia, Oral (diagnosis)</term><term>Lip Neoplasms (diagnosis)</term><term>Male</term><term>Mouth, Edentulous (diagnosis)</term><term>Oral Ulcer (diagnosis)</term><term>Pachyonychia Congenita (diagnosis)</term><term>Pachyonychia Congenita (genetics)</term><term>Syndrome</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adulte</term><term>Bouche édentée (diagnostic)</term><term>Carcinome épidermoïde (diagnostic)</term><term>Déficience intellectuelle (diagnostic)</term><term>Humains</term><term>Kyste épidermique (diagnostic)</term><term>Kératines (génétique)</term><term>Kératose (diagnostic)</term><term>Leucoplasie buccale (diagnostic)</term><term>Mâle</term><term>Pachyonychie congénitale (diagnostic)</term><term>Pachyonychie congénitale (génétique)</term><term>Syndrome</term><term>Tumeurs de la lèvre (diagnostic)</term><term>Ulcère buccal (diagnostic)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Keratins</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Carcinoma, Squamous Cell</term><term>Epidermal Cyst</term><term>Intellectual Disability</term><term>Keratosis</term><term>Leukoplakia, Oral</term><term>Lip Neoplasms</term><term>Mouth, Edentulous</term><term>Oral Ulcer</term><term>Pachyonychia Congenita</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Bouche édentée</term><term>Carcinome épidermoïde</term><term>Déficience intellectuelle</term><term>Kyste épidermique</term><term>Kératose</term><term>Leucoplasie buccale</term><term>Pachyonychie congénitale</term><term>Tumeurs de la lèvre</term><term>Ulcère buccal</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Pachyonychia Congenita</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Kératines</term><term>Pachyonychie congénitale</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Humans</term><term>Male</term><term>Syndrome</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adulte</term><term>Humains</term><term>Mâle</term><term>Syndrome</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">A 30-year-old man presented with lesions on his oral mucosa and soles. There were no similar complaints in his family members. The dermatological examination revealed follicular hyperkeratosis on his trunk and upper extremities and flesh-colored, firm cystic lesions on his axillae. He had focal, painful, hyperkeratotic areas sited particularly on both his soles and palms. In addition to these, leukokeratosis and ulcerative areas on buccal, labial mucosa, tongue, and at corners of the mouth, and complete loss of teeth was observed. The proximal layering was revealed on all of his nails. The laboratory investigations produced normal results except the deficiency of immunoglobulin A. The psychiatric examination revealed mild mental retardation. Keratin gene (KRT6a, KRT6b, KRT16, and KRT17) mutations for pachyonychia congenita were negative. He got removable dental prosthesis because of inadequate alimentation. Squamous cell cancer developed on lower lip mucosa during follow-up. We present an individual who had different nail dystrophy, epidermal cysts, mental retardation, blepharitis, complete loss of teeth, and negative keratin gene mutations for pachyonychia congenita and developed squamous cell cancer on the oral leukokeratosis lesions. We think that the present case may be an unusual new type of pachyonychia congenita.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">25713981</PMID><DateCompleted><Year>2015</Year><Month>11</Month><Day>17</Day></DateCompleted><DateRevised><Year>2015</Year><Month>02</Month><Day>26</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1365-4632</ISSN><JournalIssue CitedMedium="Internet"><Volume>54</Volume><Issue>3</Issue><PubDate><Year>2015</Year><Month>Mar</Month></PubDate></JournalIssue><Title>International journal of dermatology</Title><ISOAbbreviation>Int. J. Dermatol.</ISOAbbreviation></Journal><ArticleTitle>A case of pachyonychia congenita with unusual manifestations: an unusual type or a new syndrome?</ArticleTitle><Pagination><MedlinePgn>334-7</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1111/j.1365-4632.2012.05851.x</ELocationID><Abstract><AbstractText>A 30-year-old man presented with lesions on his oral mucosa and soles. There were no similar complaints in his family members. The dermatological examination revealed follicular hyperkeratosis on his trunk and upper extremities and flesh-colored, firm cystic lesions on his axillae. He had focal, painful, hyperkeratotic areas sited particularly on both his soles and palms. In addition to these, leukokeratosis and ulcerative areas on buccal, labial mucosa, tongue, and at corners of the mouth, and complete loss of teeth was observed. The proximal layering was revealed on all of his nails. The laboratory investigations produced normal results except the deficiency of immunoglobulin A. The psychiatric examination revealed mild mental retardation. Keratin gene (KRT6a, KRT6b, KRT16, and KRT17) mutations for pachyonychia congenita were negative. He got removable dental prosthesis because of inadequate alimentation. Squamous cell cancer developed on lower lip mucosa during follow-up. We present an individual who had different nail dystrophy, epidermal cysts, mental retardation, blepharitis, complete loss of teeth, and negative keratin gene mutations for pachyonychia congenita and developed squamous cell cancer on the oral leukokeratosis lesions. We think that the present case may be an unusual new type of pachyonychia congenita.</AbstractText><CopyrightInformation>© 2013 The International Society of Dermatology.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Gönül</LastName><ForeName>Müzeyyen</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Ankara Numune Education and Research Hospital, Dermatology Department, Ankara, Turkey.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gül</LastName><ForeName>Ülker</ForeName><Initials>Ü</Initials></Author><Author ValidYN="Y"><LastName>Kılıç</LastName><ForeName>Arzu</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Soylu</LastName><ForeName>Seçil</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Koçak</LastName><ForeName>Oğuzhan</ForeName><Initials>O</Initials></Author><Author ValidYN="Y"><LastName>Demiriz</LastName><ForeName>Murat</ForeName><Initials>M</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2013</Year><Month>10</Month><Day>29</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Int J Dermatol</MedlineTA><NlmUniqueID>0243704</NlmUniqueID><ISSNLinking>0011-9059</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>68238-35-7</RegistryNumber><NameOfSubstance UI="D007633">Keratins</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002294" MajorTopicYN="N">Carcinoma, Squamous Cell</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="Y">diagnosis</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D004814" MajorTopicYN="N">Epidermal Cyst</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="Y">diagnosis</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008607" MajorTopicYN="N">Intellectual Disability</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D007633" MajorTopicYN="N">Keratins</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D007642" MajorTopicYN="N">Keratosis</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="Y">diagnosis</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D007972" MajorTopicYN="N">Leukoplakia, Oral</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008048" MajorTopicYN="N">Lip Neoplasms</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="Y">diagnosis</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009066" MajorTopicYN="N">Mouth, Edentulous</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D019226" MajorTopicYN="N">Oral Ulcer</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D053549" MajorTopicYN="N">Pachyonychia Congenita</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="Y">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D013577" MajorTopicYN="N">Syndrome</DescriptorName></MeshHeading></MeshHeadingList><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">focal palmoplantar keratoderma</Keyword><Keyword MajorTopicYN="N">leukokeratosis</Keyword><Keyword MajorTopicYN="N">pachyonychia congenita</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2015</Year><Month>2</Month><Day>26</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2015</Year><Month>2</Month><Day>26</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2015</Year><Month>11</Month><Day>18</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">25713981</ArticleId><ArticleId IdType="doi">10.1111/j.1365-4632.2012.05851.x</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Turquie</li></country></list><tree><noCountry><name sortKey="Demiriz, Murat" sort="Demiriz, Murat" uniqKey="Demiriz M" first="Murat" last="Demiriz">Murat Demiriz</name><name sortKey="Gul, Ulker" sort="Gul, Ulker" uniqKey="Gul U" first="Ülker" last="Gül">Ülker Gül</name><name sortKey="K L C, Arzu" sort="K L C, Arzu" uniqKey="K L C A" first="Arzu" last="K L Ç">Arzu K L Ç</name><name sortKey="Kocak, O Uzhan" sort="Kocak, O Uzhan" uniqKey="Kocak O" first="O Uzhan" last="Koçak">O Uzhan Koçak</name><name sortKey="Soylu, Secil" sort="Soylu, Secil" uniqKey="Soylu S" first="Seçil" last="Soylu">Seçil Soylu</name></noCountry><country name="Turquie"><noRegion><name sortKey="Gonul, Muzeyyen" sort="Gonul, Muzeyyen" uniqKey="Gonul M" first="Müzeyyen" last="Gönül">Müzeyyen Gönül</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix 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