Autosomal dominant ichthyosis

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. 

Ohman, H. and Vahlquist, A., The pH gradient over the stratum comeum differs in x-linked recessive and autosomal dominant ichthyosis a clue to the molecular origin of the acid skin mantle , J. Invest. Dermatol., Ill, 674, 1998. 

Seven patients with autosomal dominant ichthyosis (four males, three females, age range 26-70 years) were compared with six normal volunteers (four males, two females, age range 25-64 years) and a patient with an ichthyotic eruption associated with Refsum s disease. The patient with Refsum s disease is described in detail elsewhere (see Chapter 8). 

Provisional identity of radioactive band Normals (n = 6) Autosomal dominant ichthyosis n = 7) Refsum s disease (HAP)... 

Autosomal dominant ichthyosis patients ( C Acetate study)... 

In comparison with psoriasis the ichthyoses have commanded relatively little attention from researchers as far as the population dynamics of the epidermis are concerned. Frost and Fisher and Wells found no serious disturbance of the rate of epidermal cell production in autosomal dominant ichthyosis. However, a high rate of epidermopoiesis was noted in non-bullous ichthyosiform erythroderma by Frost. ... 

Patients with autosomal dominant ichthyosis (ADI) fulfilled the usual clinical criteria for this disorder — (five men, four women, mean age = 40.5 years). The two patients with non-bullous ichthyosiform erythroderma are briefiy... 

Dykes, P. J. and Marks, R. (1977). Epidermal lipogenesis and macromolecular synthesis in autosomal dominant ichthyosis and the acquired ichthyosis associated with disorders of the small bowel. (Presented at the annual meeting of the European Society for Dermatological Research, May 2-4, Amsterdam)... 

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. 

Figure 10.3 Comparison of keratohyalin (KH) amount and ultrastructure in autosomal dominant ichthyosis vulgaris (a) and X-linked recessive ichthyosis (b) x31 500...

Refsum s syndrome will only briefly be mentioned here, since our studies together with the dermatologic department of Professor Duperrat and Professor Puissant are reported by Dr. Blanchet-Bardon in more detail (Chapter 9). Though very similar to autosomal dominant ichthyosis vulgaris histopathologically, ichthyosis in Refsum s syndrome may be strictly differentiated from the dominant type by the consistently normal keratohyalin ultra-structure ... 

Structural abnormalities are demonstrable in some dominant types, in keratohyalin (defective in autosomal dominant ichthyosis vulgaris), and tono-filaments (impaired or disturbed in their arrangement in hystrix-like ichthyoses clump formation in bullous ichthyosiform erythroderma or epidermolytic hyperkeratosis shell formation associated with high numbers of binucleate cells in ichthyosis hystrix type Curth-Macklin impairment in ichthyosis hystrix gravior type Rheydt). Keratohyalin and tonofilaments are both structural proteins of keratinizing tissues. 

Feinstein, A., Ackerman, A. B. and Ziprkowski, L. (1970). Histology of autosomal dominant ichthyosis vulgaris and x-linked ichthyosis. Arch. Dermatol, 101,524... 

Anton-Lamprecht, I. and Hofbauer, M. (1972). Ultrastructural distinction of autosomal dominant ichthyosis vulgaris and X-linked recessive ichthyosis. Humangenetik, 15,261... 

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