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SindromesSindromes NeurocutaneosNeurocutaneosFacomatosis

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Grupo de enfermedades congenitas,habitualmente hereditarias que afectana tejidos derivados del Neuroectodermo(Piel y al sistema Nervioso)asociada a tumores y comprosmisomultisistemico.

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E SCLERO SIS TUBERO SAT rastorno de ladiferenciacin yproliferacin celular,que puede afectar elcerebro, la piel, elcorazn, el ojo y elrin y otros rganos.

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M ANIFE STACIO NE S

NE

URO

LGICO

S

R etardo

mental

Adenoma

Sebaceo

Epilepsia

intratable

Autismo

Sindrome deHipertension

Endocraneana Angiofibroma enla region malar de la cara

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M cula hipopigmentada

M ANIFE STACIO NE S

DER M

ATO

LGICAS

parche lijoso

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Angiofibromasfaciales

Fibromas ungueales

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Astrocitomasretinianos

Hamartomas retinianos

. reas acrmicas en laretina.

M ANIFE STACIO NE SO FTALM O LGICAS

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AFE CTACINRE NAL

Angiomiolipomas

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AFE CTACIN CAR DACA

R abdomioma Cardaco

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AFE CTACIN PULM O NAR

linfoangio leiomiomatosis

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Sndrome hereditario caracterizado por laexistencia de ndulos a modo de tumoresbenignos en los ojos, la piel y el cerebro.

Etiopatogenia desconocida, aunquepuede por un error que afectaespecficamente a una zona de la crestaneural.

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nevo cutaneofacia l

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h emangiomas intrabuca les

sus caractersticas se inc luyen:

ca lcificaciones intracranea les

h iperp lasia gingiva l

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SNTO M AS

NEVUSFACIAL (EN VINO

DE PORT O

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PR OBLEM ASVISUALES (GLAUCOM A /

HEM IANOPSIA)

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CONVULSIONES

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DIFICULTADPAR A EL

APR ENDIZAJE

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hiperplasias vascularesThe image part with relationship ID rId3 was not found in the file.

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M ANIFE STACIO NE S BUCALE S

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V on Hippe l Lindau

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V O N HIPPE L LINDAUEnfermedad autosmica Dominante(mutacion de un gen)

Predisposicion a tumores en diferentesorganos.

Incidencia: 1/36.000

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Entre ellos:Hemangioblastomas del SNCAngiomas retinianosCancer renal y quistesFeocromocitomasQuistes y tumores pancreaticos

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M ANIFE STACIO NE S CLINICAS1. M ANIFE STACIO NE S

O CULARE S

Angiomas R etinianos

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M anifestaciones:

Disminucin de laagudeza visual oalteraciones del campovisualHemorragias

Desprendimientos de laretina o pliegues en lamacula

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SISTE M A NER V IO SO CE NTR AL

Hemangiob lastomas

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Sintomato logaCefaleaNauseaVomitoM areoAtaxiaSensacin de

InestabilidadT umores medulares:Dolor el mas referido

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CANCER RE NAL YQUISTE S

C ncer R enal

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FEO CRO M O CITO M A

SINTO M ATO LO GIA:Cefa leaSudoracinPa lpitaciones con o sintaquicardiaNerviosismoPerdida de pesoDolor abdomina lNauseas con o sin vmitos

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PANCRE ASPueden ser de 2tipos:Quistes pancreaticosy cistoadenomasserososT umores de losislotes pancreaticos

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