EdenteV2, France, Analysis, bibRecord, 000395

180‐kDa bullous pemphigoid antigen defective generalized atrophic benign epidermolysis bullosa: report of four cases with an unusually mild phenotype

Identifieur interne : 000395 ( France/Analysis ); précédent : 000394; suivant : 000396

180‐kDa bullous pemphigoid antigen defective generalized atrophic benign epidermolysis bullosa: report of four cases with an unusually mild phenotype

Auteurs : Janice Mazzanti ; Janice Gobello ; Janice Posteraro ; Janice Paradisi ; Janice Meneguzzi [France] ; Janice Chinni ; Janice Zambruno

Source :

British Journal of Dermatology [ 0007-0963 ] ; 1998-05.

RBID : ISTEX:A2BD68D7285177EB3BF06CD37E5B01C6D5F82E21

English descriptors

Abstract

Generalized atrophic benign epidermolysis bullosa (GABEB) is a rare variant of non‐lethal junctional epidermolysis bullosa characterized by generalized skin blistering healing with atrophy and by atrophic alopecia with onset in childhood. Other features include mild mucosal blistering, dental abnormalities and nail dystrophy. We report four additional cases of GABEB from two families originating from the same isolated village. The patients shared an unusually mild clinical phenotype with cutaneous blisters strictly limited to trauma sites and rare occurrence of oral mucosal lesions. Scalp, eyelash and eyebrow alopecia was present in only two cases. Immunofluorescence studies showed a markedly reduced expression of the 180‐kDa bullous pemphigoid antigen (BP180), and northern analysis of cultured keratinocytes indicated that the gene encoding for BP180 is affected in these GABEB patients.

Url:

https://api.istex.fr/document/A2BD68D7285177EB3BF06CD37E5B01C6D5F82E21/fulltext/pdf

DOI: 10.1046/j.1365-2133.1998.02226.x

Affiliations:

Links toward previous steps (curation, corpus...)

to stream Istex, to step Corpus: 005153
to stream Istex, to step Curation: 005153
to stream Istex, to step Checkpoint: 004700
to stream Main, to step Merge: 009F07
to stream Main, to step Curation: 009A37
to stream Main, to step Exploration: 009A37
to stream France, to step Extraction: 000395

Links to Exploration step

ISTEX:A2BD68D7285177EB3BF06CD37E5B01C6D5F82E21

Le document en format XML

<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">180‐kDa bullous pemphigoid antigen defective generalized atrophic benign epidermolysis bullosa: report of four cases with an unusually mild phenotype</title>
<author><name sortKey="Mazzanti, Janice" sort="Mazzanti, Janice" uniqKey="Mazzanti J" first="Janice" last="Mazzanti">Janice Mazzanti</name>
</author>
<author><name sortKey="Gobello, Janice" sort="Gobello, Janice" uniqKey="Gobello J" first="Janice" last="Gobello">Janice Gobello</name>
</author>
<author><name sortKey="Posteraro, Janice" sort="Posteraro, Janice" uniqKey="Posteraro J" first="Janice" last="Posteraro">Janice Posteraro</name>
</author>
<author><name sortKey="Paradisi, Janice" sort="Paradisi, Janice" uniqKey="Paradisi J" first="Janice" last="Paradisi">Janice Paradisi</name>
</author>
<author><name sortKey="Meneguzzi, Janice" sort="Meneguzzi, Janice" uniqKey="Meneguzzi J" first="Janice" last="Meneguzzi">Janice Meneguzzi</name>
</author>
<author><name sortKey="Chinni, Janice" sort="Chinni, Janice" uniqKey="Chinni J" first="Janice" last="Chinni">Janice Chinni</name>
</author>
<author><name sortKey="Zambruno, Janice" sort="Zambruno, Janice" uniqKey="Zambruno J" first="Janice" last="Zambruno">Janice Zambruno</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:A2BD68D7285177EB3BF06CD37E5B01C6D5F82E21</idno>
<date when="1998" year="1998">1998</date>
<idno type="doi">10.1046/j.1365-2133.1998.02226.x</idno>
<idno type="url">https://api.istex.fr/document/A2BD68D7285177EB3BF06CD37E5B01C6D5F82E21/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">005153</idno>
<idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">005153</idno>
<idno type="wicri:Area/Istex/Curation">005153</idno>
<idno type="wicri:Area/Istex/Checkpoint">004700</idno>
<idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Checkpoint">004700</idno>
<idno type="wicri:doubleKey">0007-0963:1998:Mazzanti J:kda:bullous:pemphigoid</idno>
<idno type="wicri:Area/Main/Merge">009F07</idno>
<idno type="wicri:Area/Main/Curation">009A37</idno>
<idno type="wicri:Area/Main/Exploration">009A37</idno>
<idno type="wicri:Area/France/Extraction">000395</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main">180‐kDa bullous pemphigoid antigen defective generalized atrophic benign epidermolysis bullosa: report of four cases with an unusually mild phenotype</title>
<author><name sortKey="Mazzanti, Janice" sort="Mazzanti, Janice" uniqKey="Mazzanti J" first="Janice" last="Mazzanti">Janice Mazzanti</name>
<affiliation><wicri:noCountry code="subField"></wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Gobello, Janice" sort="Gobello, Janice" uniqKey="Gobello J" first="Janice" last="Gobello">Janice Gobello</name>
<affiliation><wicri:noCountry code="subField"></wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Posteraro, Janice" sort="Posteraro, Janice" uniqKey="Posteraro J" first="Janice" last="Posteraro">Janice Posteraro</name>
<affiliation><wicri:noCountry code="subField"></wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Paradisi, Janice" sort="Paradisi, Janice" uniqKey="Paradisi J" first="Janice" last="Paradisi">Janice Paradisi</name>
<affiliation><wicri:noCountry code="subField"></wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Meneguzzi, Janice" sort="Meneguzzi, Janice" uniqKey="Meneguzzi J" first="Janice" last="Meneguzzi">Janice Meneguzzi</name>
<affiliation wicri:level="3"><country xml:lang="fr">France</country>
<wicri:regionArea>U385 INSERM, Faculté de Médecine, Nice</wicri:regionArea>
<placeName><region type="region">Provence-Alpes-Côte d'Azur</region>
<region type="old region">Provence-Alpes-Côte d'Azur</region>
<settlement type="city">Nice</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Chinni, Janice" sort="Chinni, Janice" uniqKey="Chinni J" first="Janice" last="Chinni">Janice Chinni</name>
<affiliation><wicri:noCountry code="subField"></wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Zambruno, Janice" sort="Zambruno, Janice" uniqKey="Zambruno J" first="Janice" last="Zambruno">Janice Zambruno</name>
<affiliation><wicri:noCountry code="subField"></wicri:noCountry>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j" type="main">British Journal of Dermatology</title>
<title level="j" type="alt">BRITISH JOURNAL OF DERMATOLOGY</title>
<idno type="ISSN">0007-0963</idno>
<idno type="eISSN">1365-2133</idno>
<imprint><biblScope unit="vol">138</biblScope>
<biblScope unit="issue">5</biblScope>
<biblScope unit="page" from="859">859</biblScope>
<biblScope unit="page" to="866">866</biblScope>
<biblScope unit="page-count">8</biblScope>
<publisher>Blackwell Science Ltd</publisher>
<pubPlace>Oxford BSL</pubPlace>
<date type="published" when="1998-05">1998-05</date>
</imprint>
<idno type="ISSN">0007-0963</idno>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0007-0963</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Alopecia</term>
<term>Arch dermatol</term>
<term>Atrophic alopecia</term>
<term>Axillary hair</term>
<term>Basal keratinocytes</term>
<term>Basement membrane zone</term>
<term>Benign</term>
<term>Benign epidermolysis bullosa</term>
<term>Benign epidermolysis bullosa patients</term>
<term>Biol chem</term>
<term>Blister</term>
<term>Blister formation</term>
<term>British association</term>
<term>British journal</term>
<term>Bullosa</term>
<term>Bullous</term>
<term>Bullous pemphigoid</term>
<term>Bullous pemphigoid antigen</term>
<term>Clinical features</term>
<term>Control skin</term>
<term>Corresponding mrna</term>
<term>Cultured keratinocytes</term>
<term>Defective expression</term>
<term>Dense plate</term>
<term>Dental abnormalities</term>
<term>Dermatol</term>
<term>Dermatologist</term>
<term>Dermatology</term>
<term>Electron microscopy examination</term>
<term>Enamel defects</term>
<term>Epidermal keratinocytes</term>
<term>Epidermolysis</term>
<term>Epidermolysis bullosa</term>
<term>Extracellular domain</term>
<term>Eyelash</term>
<term>Gabeb</term>
<term>Gabeb patients</term>
<term>Gene encoding</term>
<term>Generalized cutaneous</term>
<term>Generalized skin</term>
<term>Glycine substitution</term>
<term>Hypoplastic hemidesmosomes</term>
<term>Integrin subunit</term>
<term>Jong mcjm</term>
<term>Junctional</term>
<term>Junctional epidermolysis bullosa</term>
<term>Keratinocytes</term>
<term>Lamina</term>
<term>Lamina lucida</term>
<term>Lesion</term>
<term>Loading control</term>
<term>Lucida</term>
<term>Maternal aunt</term>
<term>Monoclonal antibody</term>
<term>Mountain village</term>
<term>Mucosal</term>
<term>Mucosal lesions</term>
<term>Mutation</term>
<term>Nail changes</term>
<term>Nail dystrophy</term>
<term>Normal skin</term>
<term>Northern analysis</term>
<term>Oral cavity</term>
<term>Pemphigoid</term>
<term>Perilesional skin</term>
<term>Pubic hair</term>
<term>Rabbit antiserum</term>
<term>Rare variant</term>
<term>Scalp hair</term>
<term>Several melanocytic naevi</term>
<term>Skin lesions</term>
<term>Trauma sites</term>
<term>Type xvii collagen</term>
<term>Vector laboratories</term>
</keywords>
<keywords scheme="Teeft" xml:lang="en"><term>Alopecia</term>
<term>Arch dermatol</term>
<term>Atrophic alopecia</term>
<term>Axillary hair</term>
<term>Basal keratinocytes</term>
<term>Basement membrane zone</term>
<term>Benign</term>
<term>Benign epidermolysis bullosa</term>
<term>Benign epidermolysis bullosa patients</term>
<term>Biol chem</term>
<term>Blister</term>
<term>Blister formation</term>
<term>British association</term>
<term>British journal</term>
<term>Bullosa</term>
<term>Bullous</term>
<term>Bullous pemphigoid</term>
<term>Bullous pemphigoid antigen</term>
<term>Clinical features</term>
<term>Control skin</term>
<term>Corresponding mrna</term>
<term>Cultured keratinocytes</term>
<term>Defective expression</term>
<term>Dense plate</term>
<term>Dental abnormalities</term>
<term>Dermatol</term>
<term>Dermatologist</term>
<term>Dermatology</term>
<term>Electron microscopy examination</term>
<term>Enamel defects</term>
<term>Epidermal keratinocytes</term>
<term>Epidermolysis</term>
<term>Epidermolysis bullosa</term>
<term>Extracellular domain</term>
<term>Eyelash</term>
<term>Gabeb</term>
<term>Gabeb patients</term>
<term>Gene encoding</term>
<term>Generalized cutaneous</term>
<term>Generalized skin</term>
<term>Glycine substitution</term>
<term>Hypoplastic hemidesmosomes</term>
<term>Integrin subunit</term>
<term>Jong mcjm</term>
<term>Junctional</term>
<term>Junctional epidermolysis bullosa</term>
<term>Keratinocytes</term>
<term>Lamina</term>
<term>Lamina lucida</term>
<term>Lesion</term>
<term>Loading control</term>
<term>Lucida</term>
<term>Maternal aunt</term>
<term>Monoclonal antibody</term>
<term>Mountain village</term>
<term>Mucosal</term>
<term>Mucosal lesions</term>
<term>Mutation</term>
<term>Nail changes</term>
<term>Nail dystrophy</term>
<term>Normal skin</term>
<term>Northern analysis</term>
<term>Oral cavity</term>
<term>Pemphigoid</term>
<term>Perilesional skin</term>
<term>Pubic hair</term>
<term>Rabbit antiserum</term>
<term>Rare variant</term>
<term>Scalp hair</term>
<term>Several melanocytic naevi</term>
<term>Skin lesions</term>
<term>Trauma sites</term>
<term>Type xvii collagen</term>
<term>Vector laboratories</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Generalized atrophic benign epidermolysis bullosa (GABEB) is a rare variant of non‐lethal junctional epidermolysis bullosa characterized by generalized skin blistering healing with atrophy and by atrophic alopecia with onset in childhood. Other features include mild mucosal blistering, dental abnormalities and nail dystrophy. We report four additional cases of GABEB from two families originating from the same isolated village. The patients shared an unusually mild clinical phenotype with cutaneous blisters strictly limited to trauma sites and rare occurrence of oral mucosal lesions. Scalp, eyelash and eyebrow alopecia was present in only two cases. Immunofluorescence studies showed a markedly reduced expression of the 180‐kDa bullous pemphigoid antigen (BP180), and northern analysis of cultured keratinocytes indicated that the gene encoding for BP180 is affected in these GABEB patients.</div>
</front>
</TEI>
<affiliations><list><country><li>France</li>
</country>
<region><li>Provence-Alpes-Côte d'Azur</li>
</region>
<settlement><li>Nice</li>
</settlement>
</list>
<tree><noCountry><name sortKey="Chinni, Janice" sort="Chinni, Janice" uniqKey="Chinni J" first="Janice" last="Chinni">Janice Chinni</name>
<name sortKey="Gobello, Janice" sort="Gobello, Janice" uniqKey="Gobello J" first="Janice" last="Gobello">Janice Gobello</name>
<name sortKey="Mazzanti, Janice" sort="Mazzanti, Janice" uniqKey="Mazzanti J" first="Janice" last="Mazzanti">Janice Mazzanti</name>
<name sortKey="Paradisi, Janice" sort="Paradisi, Janice" uniqKey="Paradisi J" first="Janice" last="Paradisi">Janice Paradisi</name>
<name sortKey="Posteraro, Janice" sort="Posteraro, Janice" uniqKey="Posteraro J" first="Janice" last="Posteraro">Janice Posteraro</name>
<name sortKey="Zambruno, Janice" sort="Zambruno, Janice" uniqKey="Zambruno J" first="Janice" last="Zambruno">Janice Zambruno</name>
</noCountry>
<country name="France"><region name="Provence-Alpes-Côte d'Azur"><name sortKey="Meneguzzi, Janice" sort="Meneguzzi, Janice" uniqKey="Meneguzzi J" first="Janice" last="Meneguzzi">Janice Meneguzzi</name>
</region>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/EdenteV2/Data/France/Analysis

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000395 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/France/Analysis/biblio.hfd -nk 000395 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    EdenteV2
   |flux=    France
   |étape=   Analysis
   |type=    RBID
   |clé=     ISTEX:A2BD68D7285177EB3BF06CD37E5B01C6D5F82E21
   |texte=   180‐kDa bullous pemphigoid antigen defective generalized atrophic benign epidermolysis bullosa: report of four cases with an unusually mild phenotype
}}

This area was generated with Dilib version V0.6.32.
Data generation: Thu Nov 30 15:26:48 2017. Site generation: Tue Mar 8 16:36:20 2022

	Serveur d'exploration sur le patient édenté
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

Serveur d'exploration sur le patient édenté

180‐kDa bullous pemphigoid antigen defective generalized atrophic benign epidermolysis bullosa: report of four cases with an unusually mild phenotype

180‐kDa bullous pemphigoid antigen defective generalized atrophic benign epidermolysis bullosa: report of four cases with an unusually mild phenotype

Source :

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri