Ichthyosis is a broad and loosely defined group of hereditary and acquired disorders characterized by filaggrin dysfunction and impaired epidermal homeostasis that results in dry, scaly and thickened skin. Individuals with truncation mutations in the profilaggrin gene coding for filaggrin are strongly predisposed to severe forms of ichthyosis. The phenotypical expression of ichthyosis caused by...

We recently identified mutations of the keratinocyte transglutaminase gene as a cause of lamellar ichthyosis. In this study we analyzed two sporadic cases of lamellar ichthyosis. Transglutaminase activity measured in membrane extracts from cultured differentiating keratinocytes was within the range observed in normal individuals. Western blot and Northern blot analysis revealed normal size and ...

Ichthyosis is a heterogeneous cluster of keratinization disorders. Autosomal dominant ichthyosis vulgaris, the most common type, has an estimated incidence of 1 in 250 births, and X-linked recessive ichthyosis, the second most common form, has an incidence of 1 in 6000 male births. In addition, there are approximately 6.7 in 100,000 cases of moderate-to-severe ichthyosis. Congenital ichthyoses ...

Penelitian berjudul ‘’Hubungan Kekerabatan Fenetik Lima Anggota Familia Araceae’’ telah dilaksanakan pada bulan Mei tahun 2022. Tujuan untuk mengetahui hubungan kekerabatan fenetik lima anggota familia Araceae. Metode yang digunakan dalam penelitian ini merupakan metode deskriptif. Sampel spesies Araceae antara lain yaitu Aglonema crispum, Caladium bicolor, harlequin, Monsfera abliqua, Dieffenb...

Anesthesiology, V 123 • No 5 1187 November 2015 T children who presented for surgery received thoracic epidural catheters for postoperative pain management. Postoperatively the patients were found to have unilateral facial flushing with a sharp demarcation along the midline. The rest of their physical examinations were normal. In both patients, the flushing resolved within hours of either decre...

The harlequin bug, Murgantia histrionica (Hahn), is an agricultural pest in the continental United States, particularly in southern states. Reliable gene sequence data are especially useful to the development of species-specific, environmentally friendly molecular biopesticides and effective biolures for this insect. Here, mRNAs were sampled from whole insects at the 2nd and 4th nymphal instars...

Ichthyosis is a heterogeneous family of hereditary keratinisation disorders mostly characterized by variable erythema of the whole body and different scaling patterns. Although these disorders affect tissues of epidermal origin, there is little evidence regarding the oral and dental manifestations of Lamellar Ichthyosis. A case report of early childhood caries in lamellar ichthyosis is presente...

Sjögren-Larsson syndrome is a rare neurocutaneous disorder characterized by ichthyosis, spastic diplegia or tetraplegia, and intellectual disability. Herein, we describe a case of a Greek patient with ichthyosis and spasticity of the legs but with normal intelligence (IQ 95). This syndrome should be suspected when a child presents with ichthyosis and spastic diplegia or tetraplegia, even if int...

Severe vitamin D deficiency and rickets are highly prevalent among children with congenital ichthyosis. We report an incidental observation of a dramatic and excellent clinical response with regard to skin scaling and stiffness in children with congenital ichthyosis after short-term high-dose vitamin D supplementation that has not been previously described. Seven children with congenital ichthy...