About: A New Cylindromatosis (CYLD) Gene Mutation in a Case of Brooke-Spiegler Syndrome Masquerading as Basal Cell Carcinoma of the Eyelids

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About: A New Cylindromatosis (CYLD) Gene Mutation in a Case of Brooke-Spiegler Syndrome Masquerading as Basal Cell Carcinoma of the Eyelids Goto Sponge NotDistinct Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
rdfs:seeAlso	http://dx.doi.org/10.1097/IOP.0b013e3182565c41
Description	A 70-year-old woman sought treatment for confluent flesh-colored papules on all 4 eyelids. Sixteen family members were reported to have similar lesions involving the face and scalp. Initial histopathologic examination of the lesions was interpreted as basal cell carcinoma, but on further review, the lesions were deemed to be consistent with trichoepitheliomas as seen in Brooke-Spiegler syndrome. Cylindromatosis gene mutation analysis confirmed this unique presentation of Brooke-Spiegler syndrome, and revealed a previously unidentified mutation in the cylindromatosis gene. A 70-year-old woman sought treatment for confluent flesh-colored papules on all 4 eyelids. Sixteen family members were reported to have similar lesions involving the face and scalp. Initial histopathologic examination of the lesions was interpreted as basal cell carcinoma, but on further review, the lesions were deemed to be consistent with trichoepitheliomas as seen in Brooke-Spiegler syndrome. Cylindromatosis gene mutation analysis confirmed this unique presentation of Brooke-Spiegler syndrome, and revealed a previously unidentified mutation in the cylindromatosis gene. (en)
Title	A New Cylindromatosis (CYLD) Gene Mutation in a Case of Brooke-Spiegler Syndrome Masquerading as Basal Cell Carcinoma of the Eyelids A New Cylindromatosis (CYLD) Gene Mutation in a Case of Brooke-Spiegler Syndrome Masquerading as Basal Cell Carcinoma of the Eyelids (en)
skos:prefLabel	A New Cylindromatosis (CYLD) Gene Mutation in a Case of Brooke-Spiegler Syndrome Masquerading as Basal Cell Carcinoma of the Eyelids A New Cylindromatosis (CYLD) Gene Mutation in a Case of Brooke-Spiegler Syndrome Masquerading as Basal Cell Carcinoma of the Eyelids (en)
skos:notation	RIV/00216208:11140/13:10134477!RIV14-MZ0-11140___
http://linked.open...avai/predkladatel	Lékařská fakulta v Plzni
http://linked.open...avai/riv/aktivita	P
http://linked.open...avai/riv/aktivity	P(NS9734)
http://linked.open...iv/cisloPeriodika	1
http://linked.open...vai/riv/dodaniDat	2014
http://linked.open...aciTvurceVysledku	Vaněček, Tomáš Kazakov, Dmitry
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Univerzita Karlova v Praze / Lékařská fakulta v Plzni
http://linked.open...dnocenehoVysledku	58800
http://linked.open...ai/riv/idVysledku	RIV/00216208:11140/13:10134477
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	patient; trichoepitheliomas; diverse-somatic-mutations (en)
http://linked.open.../riv/klicoveSlovo	diverse-somatic-mutations trichoepitheliomas patient
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[CEDB2D1B3073]
http://linked.open...i/riv/nazevZdroje	Ophthalmic Plastic and Reconstructive Surgery
http://linked.open...in/vavai/riv/obor	FP
http://linked.open...ichTvurcuVysledku	2 (xsd:int)
http://linked.open...cetTvurcuVysledku	6 (xsd:int)
http://linked.open...vavai/riv/projekt	Morphology and genetics of Brooke-Spiegler syndrome
http://linked.open...UplatneniVysledku	2013
http://linked.open...v/svazekPeriodika	29
http://linked.open...iv/tvurceVysledku	Kazakov, Dmitry Vaněček, Tomáš Hester, Christian C. Moretto, John C. Moscato, Eve E. Seiff, Stuart R.
http://linked.open...ain/vavai/riv/wos	000313547400005
issn	0740-9303
number of pages	3 (xsd:int)
http://bibframe.org/vocab/doi	10.1097/IOP.0b013e3182565c41
http://localhost/t...ganizacniJednotka	11140

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