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1.
Rev. medica electron ; 42(5): 2408-2415, sept.-oct. 2020. graf
Article in Spanish | LILACS, CUMED | ID: biblio-1144744

ABSTRACT

RESUMEN Las genodermatosis ictiosiformes constituyen un grupo heterogéneo de trastornos de la cornificación caracterizados por hiperqueratosis y descamación de la piel. La ictiosis arlequín es la forma más grave y agresiva de las ictiosis congénitas, presenta una baja prevalencia (1/300 000 nacimientos) con expresividad clínica variable, una evolución desfavorable y pronóstico reservado. Se presenta con un patrón autosómico recesivo y su diagnóstico prenatal es aún difícil. Se presentó el caso de un recién nacido masculino pretérmino de 34 semanas gestacionales, sin historia familiar de trastornos de piel, con un cuadro característico de ictiosis arlequín, quien falleció a los 11 días de vida. Se realizó la caracterización clínica y anatomopatológica de la enfermedad y se ofrece una revisión sobre esta rara entidad (AU).


ABSTRACT Ichthyosiform genodermatoses are a heterogeneous group of cornification disorders characterized by hyperkeratosis and skin flaking. Harlequin ichthyosis is the most aggressive and serious form of congenital ichthyoses, presenting a low prevalence (1/300 000 births), with variable clinical expressivity, an unfavorable evolution and reserved prognosis. It appears with an autosomal recessive pattern and its prenatal diagnosis is still difficult. The authors present the case of a male preterm newborn, of 34 gestational weeks, without family history of skin disorders, and clinical characteristics of Harlequin ichthyosis, who died at the 11 day of birth. The disease clinical and anatomopathologic characterization was carried out and a review of this rare entity is made (AU).


Subject(s)
Humans , Male , Infant, Newborn , Ichthyosis, Lamellar/diagnosis , Genetic Diseases, Inborn/diagnosis , Prenatal Diagnosis/methods , Ichthyosis, Lamellar/mortality , Ichthyosis, Lamellar/therapy , Ichthyosis, Lamellar/epidemiology , Hyperkeratosis, Epidermolytic/diagnosis , Critical Pathways/standards
2.
ACM arq. catarin. med ; 37(4): 53-56, set.-dez. 2008. ilus
Article in Portuguese | LILACS | ID: lil-512810

ABSTRACT

Feto arlequim é uma variante grave da ictiose congenita, uma herança autossômica recessiva que causa alteração da queratinização da pele, que incide em cerca de 1/100.000 nascimentos e está geralmente associada a consaguinidade dos pais. Manifesta-se ao nascimento como uma pele espessada que evolui para rachaduras generalizadas, comprometendo as suas funções básicas e predispondo a infecções. Relata-se o caso de um RN do sexo feminino, cujos pais não referem nenhum grau de parentesco. A mesma foi mantida em isolamento em incubadora, mas feleceu no nono dia de vida por insuficiência respiratória restritiva.


Harlequin fetus is a variant of severe congenital ichthyosis, an autosomal recessive heredity make change in the keratinization of skin, which appear around 1/100.000 births and is usually associated with consaguineus parents. At birth it seems like a thicken skin that develops into widespread cracks, affecting its basics functions and predisposes to infections. We report the case of a female newborn, whose parents don’t mention any degree of kinship. The baby stood on isolation in incubator, but died at ninth day of life from restrictive respiratory failure.


Subject(s)
Humans , Female , Infant, Newborn , Consanguinity , Ichthyosis, Lamellar , Infant, Premature , Ectropion/pathology , Ichthyosis, Lamellar/complications , Ichthyosis, Lamellar/diagnosis , Ichthyosis, Lamellar/etiology , Ichthyosis, Lamellar/genetics , Ichthyosis, Lamellar/mortality , Ichthyosis, Lamellar/pathology , Ichthyosis, Lamellar/therapy , Infant, Premature/growth & development
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