But once diag

The last function of epidermis is to provide an intact skin barrier, for which, keratinocytes (the predominant cell in the epidermis) undergoes a process of differentiation on their way from the basal layer to the surface. At the end, the outermost queratonicitos (which have lost their nucleus), is shed from the surface in a process (desquamation) in the proteases involved. brown kraft paper Essential to the formation of the epidermal barrier, the corneocytes by extracellular matrix rich in lipids (cholesterol, fatty acids and ceramides), which are discharged into the outside of the cell by specialized organelles called lamellar bodies through a series surround enzymatic and non-enzymatic steps. The whole mechanism is called forming epidermal barrier, fundamental in preventing aggression by physical, chemical and microbial agents, and maintains homeostasis by regulating body fluid loss. Well, sometimes things happen, and it all stop being so perfect. The congenital ichthyosis brown kraft paper (also can be purchased, but this is another film) are a heterogeneous group of diseases caused brown kraft paper by mutations in the genes that make up the skin barrier diseases, and are one of the most complex and interesting chapters in dermatology. More traditional brown kraft paper classifications have been replaced by a 2009 consensus based on genetic and molecular underpinnings (Oji). brown kraft paper This new classification distinguishes two main forms of ichthyosis: non-syndromic (manifested exclusively in the skin) and syndromic (skin and other organs, central nervous system). Within non-syndromic forms differentiate 4 groups: common ichthyosis, autosomal recessive congenital ichthyosis (ICAR), the queratinopáticas ichthyosis and other less frequent forms. The issue is so complex that it is impossible to consistently expose here, so I will refer to this article Sifiliográficas Proceedings 2013 L. Rodriguez-Pazos ICAR explains where and mutations responsible for a great review. I'll give you just a few notes of this article and other European Journal of Human Genetics published by M. Schmuth in 2013, very interesting if you want to pursue the subject. Algorithm from the article Schmuth M. (2013) But back to Mariana's mother forgot to mention this first visit that the girl had performed a biopsy in your country. We brought the report (in Polish) to the monitoring visit, the diagnosis of "lamellar ichthyosis." Classically in the group of ICAR ichthyosis included laminar (IL) and congenital ichthyosiform erythroderma (EIC). But in the new classification harlequin ichthyosis (AI) and other less frequent variants were added (I refer to the article). In reality brown kraft paper there are few data on the epidemiology brown kraft paper of ICAR, and a joint study estimated prevalence IL and EIC of 1: 200,000 to 1: 300,000. In Spain ICAR estimated prevalence of 1: 138,000 in the general population, although in certain regions (Galician coast) reach a 1: 33,000 by the existence of founder mutations. Although originally it was thought that IL and EIC were different entities, there are patients with intermediate forms, and are known to be both caused by mutations in the same gene. Many patients are born wrapped in a collodion membrane which disappears progressively in the first weeks of life. Hypohidrosis is common, severe heat intolerance and nail dystrophy. Patients with IL flakes have large dark sheet occupying the entire body surface, not associated erythroderma (or minimal). They usually have ectropion and sometimes eclabium, hypoplastic ear and nose cartilage, scarring alopecia and palmoplantar keratoderma. The EIC is characterized by generalized brown kraft paper erythroderma and fine scaling. Some patients have marked erythema and scales can be large and dark. Biopsy is not diagnostic. In IL orthokeratotic massive hyperkeratosis with epidermal acanthosis and sometimes psoriasiform pattern. Electron microscopy can be useful to exclude other forms of ichthyosis and guide genetic testing in some cases. The truth is that from the genetic point of view, the ICAR are very heterogeneous. The TGM1 gene is responsible for the majority of cases (32%), but mutations have been described in other genes: ALOX12B, ALOXE3, NIPAL4, CYP4F22 and ABCA12. The TGM1 gene is located on chromosome 14q11.2 and encodes TGase 1 enzyme, which participates in the formation of cornified envelope, have been described over 100 mutations brown kraft paper in this gene. Many studies have tried to show genotype-phenotype associations not to date has been a tight correlation.
But once diag