نتایج جستجو برای: congenital ichthyosis
تعداد نتایج: 121782 فیلتر نتایج به سال:
We present a 32-year-old white patient with congenital reticular ichthyosiform erythroderma, also known as ichthyosis variegata. The patient had typical clinical features with areas of normal appearing skin surrounded by erythematous hyperkeratotic patches. The smaller ‘‘confetti-like’’ patches were mostly present on the trunk, while the larger areas forming a reticular pattern predominated on ...
Congenital bilateral ectropion of the upper eyelids is a rare, benign condition reported in ophthalmic literature. It is more frequently associated with Down's syndrome, ichthyosis, and sporadic cases in newborns from black population. We report three cases of congenital bilateral upper eyelid ectropion associated with Down's syndrome. Management of these patients usually requires medial and la...
Structure-function implication on a novel homozygous Trp250/Gly mutation of transglutaminase-1 (TGM1) observed in a patient of autosomal recessive congenital ichthyosis is invoked from a bioinformatics analysis. Structural consequences of this mutation are hypothesized in comparison to homologous enzyme human factor XIIIA accepted as valid in similar structural analysis and are projected as gui...
Maeder and Datiis (1947) described a 40-year-old woman with small white curved filaments occupying a disc in the deepest layers of the corneal stroma. The peripheral 2 mm. of cornea remained unaffected. The corneae of this patient showed keratoconus, clinically manifest in the left eye with a forme fruste in the right. D'Ermo (1950) annotated a similar case in a 19-year-old girl who was also af...
Hereditary ichthyosis is a group of generalized hereditary keratinization disorders characterized by general dryness the skin, peeling, hyperkeratosis and often erythroderma. These manifestations are caused mutations in genes mainly involved formation skin barrier. divided into syndromic non-syndromic. Nonsyndromic ichthyoses include: vulgar ichthyosis, recessive X-linked autosomal congenital k...
The ichthyoses comprise a group of keratinisation disorders characterised by generalised scaling of the skin. Lamellar ichthyosis (LI) is usually manifested at birth as a collodion baby with ectropion/eclabion. Collodion membrane means encased in a tight shiny covering. It is characterised afterwards by non-bullous scaling of the whole integument with variable erythroderma. LI is a major subtyp...
Mutations in patatin-like phospholipase domain-containing 1 (PNPLA1) cause autosomal recessive congenital ichthyosis, but the mechanism involved remains unclear. Here we show that PNPLA1, an enzyme expressed in differentiated keratinocytes, plays a crucial role in the biosynthesis of ω-O-acylceramide, a lipid component essential for skin barrier. Global or keratinocyte-specific Pnpla1-deficient...
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