A case of pachyonychia congenita with unusual manifestations: an unusual type or a new syndrome?
Identifieur interne : 005883 ( Ncbi/Curation ); précédent : 005882; suivant : 005884A 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
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: Pour aller vers cette notice dans l'étape Curation :000494
- to stream PubMed, to step Curation: Pour aller vers cette notice dans l'étape Curation :000494
- to stream PubMed, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :000494
- to stream Ncbi, to step Merge: Pour aller vers cette notice dans l'étape Curation :005883
Links to Exploration step
pubmed:25713981Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">A case of pachyonychia congenita with unusual manifestations: an unusual type or a new syndrome?</title>
<author><name sortKey="Gonul, Muzeyyen" sort="Gonul, Muzeyyen" uniqKey="Gonul M" first="Müzeyyen" last="Gönül">Müzeyyen Gönül</name>
<affiliation wicri:level="1"><nlm:affiliation>Ankara Numune Education and Research Hospital, Dermatology Department, Ankara, Turkey.</nlm:affiliation>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Ankara Numune Education and Research Hospital, Dermatology Department, Ankara</wicri:regionArea>
<wicri:noRegion>Ankara</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gul, Ulker" sort="Gul, Ulker" uniqKey="Gul U" first="Ülker" last="Gül">Ülker Gül</name>
</author>
<author><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>
</author>
<author><name sortKey="Soylu, Secil" 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>
</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" wicri:step="PubMed">000494</idno>
<idno type="wicri:Area/Ncbi/Merge">005883</idno>
<idno type="wicri:Area/Ncbi/Curation">005883</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">A case of pachyonychia congenita with unusual manifestations: an unusual type or a new syndrome?</title>
<author><name sortKey="Gonul, Muzeyyen" sort="Gonul, Muzeyyen" uniqKey="Gonul M" first="Müzeyyen" last="Gönül">Müzeyyen Gönül</name>
<affiliation wicri:level="1"><nlm:affiliation>Ankara Numune Education and Research Hospital, Dermatology Department, Ankara, Turkey.</nlm:affiliation>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Ankara Numune Education and Research Hospital, Dermatology Department, Ankara</wicri:regionArea>
<wicri:noRegion>Ankara</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gul, Ulker" sort="Gul, Ulker" uniqKey="Gul U" first="Ülker" last="Gül">Ülker Gül</name>
</author>
<author><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>
</author>
<author><name sortKey="Soylu, Secil" 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>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/EdenteV2/Data/Ncbi/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 005883 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd -nk 005883 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Santé |area= EdenteV2 |flux= Ncbi |étape= Curation |type= RBID |clé= pubmed:25713981 |texte= A case of pachyonychia congenita with unusual manifestations: an unusual type or a new syndrome? }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/RBID.i -Sk "pubmed:25713981" \ | HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd \ | NlmPubMed2Wicri -a EdenteV2
This area was generated with Dilib version V0.6.32. |