Ichthyosis vulgaris

Treatment of ichthyosis vulgaris and xerosis PO Apply sparingly and rub into area thoroughly ql2h. 

As a humectant, urea is used in concentrations of 2-20% in creams and lotions. As a keratolytic agent, it is used in 20% concentration in diseases such as ichthyosis vulgaris, hyperkeratosis of palms and soles, xerosis, and keratosis pilaris. Concentrations of 30-50% applied to the nail plate have been useful in softening the nail prior to avulsion. 

Manabe, M., Sanchez, M., Sun, T. T., and Dale, B. A. (1991). Interaction of filaggrin with keratin filaments during advanced stages of normal human epidermal differentiation and in ichthyosis vulgaris. Differentiation 48, 43-50. 

Presland, 1C B., Boggess, D., Lewis, S. P., Hull, C., Fleckman, P. and Sundberg, J. P. (2000) Loss of normal profilaggrin and filaggiin in flaky tail (ft/ft) mice an animal model for the filaggrin-deficient skin disease ichthyosis vulgaris. J Invest Dermatol 115, 1072-1081. 

Nomura, T., Sandilands, A., Akiyama, M., Liao, H., Evans, A. T., Sakai, K., et al. (2007) Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis. J Allergy Clin Immunol 119, 434 440. 

De novo occurrence of the filaggrin mutation p.R501X with prevalent mutation c.3321delA in a Japanese family with ichthyosis vulgaris complicated by atopic dermatitis. J Invest Dermatol 128, 1323-1325. 

The most common forms of ichthyosis — autosomal dominant ichthyosis vulgaris (IV) and X-linked recessive ichthyosis (XRI) — in many countries occur at frequencies a high as 1/300 and 1/2500, respectively. In fact, the genetic traits for IV and XRI are so frequent that the two diseases sometimes coexist in one and the same family, which may cause confusion as to the inheritance pattern. Although the incidence of IV and XRI is probably similar around the world, climate differences in particular will affect the severity of the disease, and hence its notification by the health care system. 

FIGURE 8.2 Extremities showing (a) ichthyosis vulgaris in a 40-year-old woman and (b) X-linked ichthyosis in a 20-year-old man (from the author s files). 

Clinical and Biological Features Distinguishing Ichthyosis vulgaris (IV) from X-linked Recessive Ichthyosis (XRI)... 

FIGURE 8.3 Schematic representation of the pH gradients over stratum corneum in normal skin, Ichthyosis vulgaris (IV), and X-linked Recessive Ichthyosis (XRI) skin, respectively. (Reproduced from Ohman, H. and Vahlquist, A., J. Invest. Dermatol., Ill, 674, 1998. With permission.)... 

Ichthyosis vulgaris X-Linked ichthyosis Lamellar ichthyosis (nonbullous ichthyosiform erythroderma) Epidermolytic hyperkeratosis (bullous ichthyosis)... 

Sybert, V., Dale, B., and Holbrook, K., Ichthyosis vulgaris identification of a defect in synthesis of filaggrin correlated with an absence of keratohyaline granules, J. Invest. Dermatol., 84, 191, 1985. 

Nirunsuksiri, W., Presland, R.B., Brumbaugh, S.G., Dale, B.A., and Fleckman, P., Decreased profil-aggrin expression in ichthyosis vulgaris is a result of selectively impaired posttranscriptional control,. /. Biol. Chem., 270, 871, 1995. 

Fleckman, P. and Brumbaigh, S., Absence of the granular layer and keratohyaline define a morphologically distinct subset of individuals with ichthyosis vulgaris, Exp. Dermatol., 11, 327, 2002. 

Germann, R., I. Schindera, M. Kuch, U. Seitz, S. Altmeyer, and F. Schindera, Life threatening salicylate poisoning caused by percutaneous absorption in severe ichthyosis vulgaris. Hautarzt, 1996, 47 624-7. 

Ichthyosis vulgaris Emollients to hydrate and smooch the skin, e.g. emulsifying ointment and urea-based creams, e.g. Calmurid. Very severe variants may need acetretin. Avoid degreasing skin, e.g. by domestic detergents. 

Keratolytics are available in a multitude of formulations for treating skin diseases. Prolonged use of salicylic acid preparations over large areas, especially in children and patients with renal and hepatic impairment, can result in salicylism. Irritation is a common side effect with higher concentrations. Lactic acid (Lac-hydrin, others) is an emoUient that contains 12% lactic acid, which is an effective moisturizer indicated for the treatment of xerosis and ichthyosis vulgaris. 

Epidermal sterol biosynthesis in ichthyosis vulgaris was studied by Summerly and Yardley , who found that acetate incorporation into sterols was increased (but not significantly so). These results were weight-corrected, and so may have been distorted by the presence of inert scale in the ichthyotic samples. We therefore decided to reinvestigate sterol biosynthesis in ichthyosis, within the context of total epidermal lipogenesis. 

During our current research on the immunopathology of psoriasis we have also paid special attention to various keratinization disorders, in particular ichthyosis vulgaris. This has provided us with interesting material for comparative studies. 

Skin biopsies were performed on 15 subjects with ichthyosis vulgaris. The specimens were taken from the extensor surface of the forearm and examined both by direct immunofluorescence (D.If.) and by the four compartment system. The D.If. technique has been described in our previous studies The characteristics of the antisera used are referred to in detail in Table 5.1. 

The immunoglobulins and complement do not fix to the stratum corneum of subjects with ichthyosis vulgaris. 

Table 5.3 Results obtained with the four-compartment system in 15 cases of ichthyosis vulgaris...

In the case of ichthyotic scale, obtained from autosomal dominant ichthyosis vulgaris, however, a much more normal gel pattern is obtained (Figure 7.5). The uppermost band, which is absent in psoriatic scale, is clearly present. The lower two bands appear to travel as three. This is probably not significant as this appearance is occasionally given by normal callus extracts and seems to result from technical difficulties in processing dilute solutions. 

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