Results 81 to 90 of about 2,525 (203)

Incontinentia pigmenti – case report [PDF]

Introducere Incontinentia pigmenti (IP) este o genodermatoză rară, X-lincată, dominantă, cauzată de o mutație în gena IKBKG, care activează NF-kB, un factor de transcripție implicat în reacțiile imune și inflamatorii, creșterea și apoptoza celulară ...
Balmuș, Dorin, Rubanovici, Dumitru, Sturza, Vasile, Beţiu, Mircea, Emeţ, Iulia   +4 more
core  

Incontinentia Pigmenti [PDF]

The Journal of Pediatrics, 2016
Ryan, Batson, Brett H, Keeling, Lucia Z, Diaz   +2 more
openaire   +3 more sources

HIDROPS FETAL COMO MANIFESTACIÓN ECOGRÁFICA DE UNA ENFERMEDAD FAMILIAR: INCONTINENTIA PIGMENTI (SÍNDROME DE BLOCH-SULZBERGER)

Revista Chilena de Obstetricia y Ginecología, 2010
Diagnóstico de un caso de enfermedad familiar a partir de un hidrops fetal. Gestante con 2 abortos previos ocurridos al inicio del segundo trimestre, ambos fetos masculinos.
Ana Isabel Padilla P, Margarita Alvarez de la Rosa R, Marina Rodríguez M, Yanet Carballo L, Francisco de la Torre F, Juan Troyano L   +5 more
doaj  

Cephalometric skeletal evaluation of patients with Incontinentia Pigmenti

Journal of Oral Biology and Craniofacial Research, 2014
Purpose: The aim of this study was to evaluate the skeletal characteristics of patients with the rare genetic disease of Incontinentia Pigmenti, by lateral cephalometric analysis on the antero-posterior plane and by frontal cephalometric analysis on the ...
Marcia Angelica Peter Maahs, Ana Elisa Kiszewski, Rafael Fabiano Machado Rosa, Fernanda Diffini Santa Maria, Frederico Ballvé Prates, Paulo Ricardo Gazzola Zen   +5 more
doaj   +1 more source

Periodic hypersomnia, congenital ectodermal disorders and multiple exostosis

Arquivos de Neuro-Psiquiatria, 1989
A case of periodic hypersomnia in an 11-year-old female with the unique features of mental deficiency, incontinentia pigmenti, acanthosis nigricans and hereditary multiple exostosis (diaphysial aclasis) is reported.
Rubens Reimão, Aron Diament
doaj   +1 more source

Incontinentia Pigmenti: Case Report

, 2013
Incontinentia pigmenti (IP) or Bloch-Sulzberger syndrome, is a rare X linked dominant disorder with characteristic skin, hair, eye, dental and neurological abnormalities mostly affecting females.
Xiuli Li, Xiuxiu Wang, Li, Xiuli, Wang, Xiuxiu, Yulin Shi, Shi, Yulin   +5 more
core  

A pregnancy following PGD for X-linked autosomal dominant Incontinentia Pigmenti (Bloch-Sulzberger syndrome)

, 2000
Incontinentia Pigmenti (Bloch-Sulzberger syndrome) is a rare multisystem, ectodermal disorder associated with dermatological, dental and ocular features, and ...
Pal, K, Rowell, P, Handyside, A, Kuo, H C, Ogilvie, C M, Braude, P, Scriven, P, Pettigrew, R   +7 more
core   +1 more source

Incontinentia Pigmenti: A Newborn with Characteristic Skin Lesions and Bilateral Optic Atrophy: Case Report and Review of Literature

Acta Medica Iranica, 2013
Incontinentia Pigmenti (IP) is a rare X-linked dominant disorder with skin, eye, central nervous system (CNS) and tooth abnormalities. According to the reported cases, it is estimated that there have been nearly 900-1200 affected individuals.
Maryam Azizzadeh, Morteza Rezaei, Nargess Hashemi   +2 more
doaj  

Incontinentia pigmenti en Cajamarca: Reporte de un caso en lactante

, 2015
La Incontinentia pigmenti (IP) o Síndrome de Bloch-Sulzberger es una rara enfermedad dominante ligada al cromosoma X, caracterizada por lesiones en la piel.
Chambi Torres, Javier Bernardo, Chambi-Torres, Javier, Gálvez-Marticorena, Brayan, Gálvez Marticorena, Brayan   +3 more
core   +1 more source

Incontinentia pigmenti

Journal of the American Academy of Dermatology, 2000
G W, Mirowski, K S, Caldemeyer
openaire   +4 more sources