Ichthyosis Research Paper

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Ichthyosis
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 “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 Hodgkin's disease but it is also occurs in people with mycosis fungoides, other malignant sarcomas, Kaposi's 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,...
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