نتایج جستجو برای: lamellar ichthyosis
تعداد نتایج: 8730 فیلتر نتایج به سال:
A baby full term born of LSCS to a otherwise healthy mother was referred for ophthalmology department. On ophthalmological torch light examination, the patient had equal upper and lower lid bilateral ectropion. There missing eye lashes noted. The anterior segment evaluation found be within normal limit without evidence corneal opacities. Lamellar ichthyosis termed as Collodion is infrequent dis...
Research into the molecular genetics and pathomechanisms of ichthyoses have advanced considerably, resulting in the identification of several causative genes and molecules underlying the disease. In 2009, the First Ichthyosis Consensus Conference was held to establish a consensus for the nomenclature and classification of inherited ichthyoses, by which an international consensus for the classif...
BACKGROUND Inherited ichthyoses represent a group of rare skin disorders characterized by scaling, hyperkeratosis and inconstant erythema, involving most of the tegument. Epidemiology remains poorly described. This study aims to evaluate the prevalence of inherited ichthyosis (excluding very mild forms) and its different clinical forms in France. METHODS Capture - recapture method was used fo...
This paper describes a neonate with type II Gaucher disease. The phenotype was unusually severe with congenital ichthyosis, hepatosplenomegaly, muscular hypotonia, myoclonus and respiratory failure. Electron microscopy of the skin revealed lamellar body contents in the stratum corneum interstices, appearances considered to be typical of type II Gaucher disease. The baby died from respiratory fa...
© 2014 The Authors. doi: 10.2340/00015555-1739 Journal Compilation © 2014 Acta Dermato-Venereologica. ISSN 0001-5555 Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive lamellar ichthyosis (LI). In 2005, Jacyk first reported 13 cases of LI that presented with the characteristic distribution of lesions on the trunk but usually sparing the extremities and the central face (1). ...
Lamellar ichthyosis (LI), considered an autosomal recessive monogenic genodermatosis, has an incidence of approximately 1 in 250,000. Usually associated with mutations in the transglutaminase gene ( TGM1), mutations in six other genes have, less frequently, been shown to be causative. Two siblings, born in a collodion membrane, presented with fish like scales all over the body. Karyotyping reve...
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