Ichthyosis Essay Example for Free

Ichthyosis Essay While the ichthyoses constitute a rather large spectrum of about 20 cornification disorders that fit the definition and about 10 with more localized symptoms, they all are various permutations of a hyperkeratotic skin disorder that are characterized by an overgrowth and thickening of the corneal layer of the epidermis with localized erythema, and are classified from their; genetic or acquired origin, inheritance patterns, gene defects, etiologically as enzyme deficiencies, structural protein defects, regulatory protein defects, or other, and clinically as a syndromic ichthyosis, non-syndromic ichthyosis, or as a related condition. The term â€Å"ichthyosis† is derived from the Greek word ‘ichthys’ meaning ‘fish’. And aptly named as it is, a patient with ichthyosis will present with scaly dry ‘fish-like’ skin. The severity of scaling in ichthyotic patients runs a very broad spectrum, from severe to mild, where it blends into the realm of ‘dry skin’, or xerosis. The most minor of the ichthyoses, ichthyosis vulgaris, in its’ more mild forms, presents with light flaking and irritated apperence can be confused with simple xerosis. While the skin of patients with lamellar ichthyosis, is characterized by heavily pigmented, plate (armor) like armor scales that are both obvious and often debilitating. And while all forms of ichthyosis present with a flaky or scaly appearance, several other characteristic clinical features are used as hallmarks of a particular types of ichthyosis so as to distinguish them from one another. In general congenital forms such as lamellar ichthyosis, congenital ichthyosiform erythroderma, epidermolytic hyperkeratosis, and ichthosis bullosa will present at birth with a yellow, tight and shiny, ‘collodion-like’ membrane which sheds in 2-3 weeks to reveal a flaky dry skin and in cases of ichthyosis bullosa, redness and blistering, especially over flexures. The traits of congenital ichthyosis, from obvious scaly appearance, to inflexibility and pain, are all permanent and life-long conditions that even after stabilization and survival are strongly inhibitory to normal psychological and sociological development. With such a dramatic difference in appearance and physical performance, ichthyosis sufferers are very nearly always ostracized as children, often with negative effects and stunted development. The two basic types of ichthyosis are defined by their method of origin as either genetic or acquired. In inherited ichthyosis; specified as autosomal dominant, autosomal recessive, and X-linked, a mutation in a gene causes an abnormality in the normal life cycle of skin, leading to a build-up of excess skin either because of the overproduction of the replacement skin cells or because when the time comes when old cells have to be drop off they do not separate very well from the surfaces of the skin. This disruption will result to accumulation of skin cells to thick flakes which may look like fish scales, adhering themselves to the body. Acquired ichthyosis often appears as a manifestation of systemic disease, described in association with malignancies, drugs, endocrine and metabolic disease, HIV, infection, and autoimmune conditions It is usually is associated with people who have Hodgkins disease but it is also occurs in people with mycosis fungoides, other malignant sarcomas, Kaposis sarcoma and visceral carcinomas. It can occur in people suffering from leprosy, AIDS, tuberculosis, and typhoid fever. With such a rate of variation between the severity of various ichthyotic conditions and the degrees of variance within the conditions themselves, it is impossible to place a single prognosis or plan of treatment on ichthyosis or any ichthyotic condition in particular. In actuality since ichthyosis is such a rare disorder with such a low rate of incidence; with the most common, ichthyosis vulgaris at 1 in 250, X-linked at 1 in 6,000 in males and ichthyoses in their entirety at about 1 in 250,000, more often the not, it must be evaluated and treated on a case to case basis. However despite the tremendous margin of difference between conditions the basic objective remains the same, to aid the skin in retaining moisture, shedding, and in the promotion of a softer, suppler, more flexible skin surface. While no cure for ichthyosis exists the current treatment options for an ichthyotic patient are topical therapy, bathing, and mechanical scale removal, along with psychosocial support for patient and family via patient organizations. Topical therapy focuses on the regeneration of the epidermal barrier by water binding, Transepidermal Water Loss (TEWL) reduction and reformation of the lipid barrier or anti-inflammation with the regular use of ointments containing lipids, keratolytic, and/or hydrating substances. Therapeutic bathing seeks to loosen scales and residual medications in addition to hydrating the skin with bland baths up to twice a day with sodium bicarbonate, wheat, corn, or rice starch, during which scales and hyperkeratoses are mechanically removed using repetitive gentle rubbing using microfiber household towels, pumice stones, or special silk gloves. Typically the prognosis for very poor for infants born with the most severe ichthyoses, such as epidermolytic hyperkeratosis and harlequin ichthyosis where the child is born with severe blistering and huge, thick scales punctuated by deep fissures, if the infant doesn’t die within the first few days of life from dehydration, the next several weeks leave the neonate extremely prone to infection, sepsis and death. While if an infant does survive into its’ first few months of life, the chances of survival are relatively good, as with the other degrees of ichthyosis, once the conditions’ more life-threatening symptoms have been stabilized, the survivability rate is much better and work can begin to be done on improving the quality of life. In cases such as these tremendous advancements have been made with the introduction of specialized intensive care units and a recent evolution of Retinoid medications, along with the various creams, salves and ointments aimed at moisturizing the skin and aiding the skin in shedding. Of the topical lotions, ointments and creams themselves, advancements have been made in the use of nanotechnology, in order to more finely mill the medications in the salves into nano-sized particles, greatly increasing the absorption into the skin and productiveness of topical treatment. Since ichthyosis is a genetic disorder the search for an absolute â€Å"cure† has been largely limited to gene therapy and stem cell research, the latter of which is hindered by legal and ethical debate, while the former has been extremely restricted since a string of gene therapy related deaths in 2002, since which gene therapy has been largely limited to severe autoimmune diseases with fatal prognosises. So the bulk of ichthyosis-related research has been directed toward creating new products to alleviate the symptoms and provide a higher standard of living. However in 2009, a major victory was won for the sufferers and researcher of inherited ichthyosis, when the conclusion of the First Ichthyosis Consensus Conference held in Soreze, France, on January 23 and 24, 2009, where subcommittees on different issues proposed terminology that was debated until consensus was reached. The classification project started two years prior, at the First World Conference on Ichthyosis in 2007. And after its’ completion, allowed for a universal system of taxonomy was adopted for the nomenclature involving inherited ichthyosis. Works Cited http://emedicine.medscape.com/article/1198130-overview