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Two collodion baby girls with disorder evolving into lamellar ichthyosis were followed by light and electron microscopy. Light microscopically, the neonatal colloidion skin was characterized by a thick compact stratum corneum which was PAS positive in its upper two thirds, by a thin stratum granulosum and by a non-acanthotic stratum spinosum with normal mitotic activity. Electron microscopically, the upper stratum corneum appeared pathological, whereas the lower part was normal except for some minor parakeratosis. The main alterations in the underlying stratum granulosum were diminished tonofibrils and keratohyalin. Biopsy specimens taken at the age of 2 weeks were typical for lamellar ichthyosis and showed hyperkeratosis with focal parakeratosis, a thickened stratum granulosum in which the cellular content of keratohyalin and tonofibrils was moderately diminished, and acanthosis with increased mitotic activity. It appears that the ultrastructural changes of the stratum granulosum, seen in lamellar ichthyosis, are already present in the collodion skin of the newborn, at a time when the epidermis does not yet show an increase in mitotic activity.
The clinical and histologic distinction between X-linked recessive and autosomal dominant ichthyosis was studied by evaluating 12 classical differential parameters in 85 patients. Thirty-three of them had X-linked and 52 autosomal dominant ichthyosis. Eight of these parameters were generally helpful in the differential diagnosis: age of onset, severity of involvement, scale size, chapping of hands and feet, atopic background, influence of warm weather, corneal opacities and state of the granular layer. Involvement of skin folds, keratosis pilaris, increased palmo-plantar markings and improvement with age were unreliable. In the literature, age of onset and corneal opacities were additionally found unreliable; the histology was of limited value in two reports. Therefore, we concluded that the herein evaluated differential criteria seem to be valid mainly when considering groups of patients. For the individual case, an error in diagnosis, particularly in X-linked ichthyosis, is not rare when relying solely on these criteria. When in doubt, determination of steroid sulphatase activity is mandatory.
Steroidsulfatase and arylsulfatase C were determined in fibroblasts and/or leukocytes of patients affected with different types of ichthyosis. Of the 21 patients studied, 11 showed clinical characteristics of X-linked ichthyosis (XLI) and a deficiency of these 2 enzymatic activities. Patients affected with other types of ichthyosis showed no enzymatic deficiency. In XLI families diagnosis of heterozygotes was performed by enzymatic measurements in the 5 patients' mothers studied. In 2 families enzymatic activities were studied in patients' sisters. The validity of these different enzymatic measurements is discussed.
The growth, differentiation, and regeneration of epidermal cultures from patients with X-linked and autosomal dominant ichthyosis and normal individuals were compared. Cell proliferation was studied by combining the technique of fluorescence-activated cell sorting with [3H]thymidine labelling and autoradiography. As in normal epidermal cultures, a marked heterogeneity in the labelling intensity of S-phase cells was observed in the ichthyotic cultures with totally unlabelled as well as very strongly labelled cells. However, in contrast to normal cultures, by far the largest proportion of S-phase cells in the ichthyotic cultures were very strongly labelled with a corresponding, severe reduction in the proportion of un- and weakly labelled cells. The increased labelling intensity of S-phase cells was observed in primary as well as in regenerating cultures, although it was most pronounced in the latter case. There was no difference between cultures from the two types of ichthyotic skin. The morphologic differentiation in the cultures was assessed by measurement of mean diameter of sorted S-phase cells and by quantitation of cornified envelop formation. Both parameters were reduced in the ichthyotic cultures, compared with normal ones. Taken together, these findings are indicative of a hyperproliferative state in the ichthyotic cultures.
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Whole-skin grafts from a patient with lamellar ichthyosis were maintained on athymic nude mice for periods of 6 weeks to 4 months with excellent preservation of all gross and histologic features of the disease. In recombinant grafts composed of lamellar ichthyosis epidermis and normal dermis grown for periods up to 87 days on nude mice, the abnormal epidermis retained all the features of lamellar ichthyosis. Similar results were found in recombinants of lamellar ichthyosis epidermis and dermis. In recombinant grafts of normal epidermis and lamellar ichthyosis dermis, the epidermis remained normal and did not become ichthyotic. These observations support the hypothesis that the defective gene in lamellar ichthyosis acts directly on the epidermis as opposed to acting indirectly through a systemic abnormality or through an effect on neighboring dermis.
Enzyme histochemistry of biopsies from the small intestine of 5 patients with different forms of inherited ichthyosis and of 2 normal volunteers was performed. Two of the patients had ichthyosis vulgaris, two had non-bullous congenital ichthyosiform erythroderma and one had X-linked ichthyosis. The following enzymatic activities were examined: G6P-D, 6PG-D, NADPH2-TR, ALD-A, L-D, C-A, IC-D, S-D, M-D, NADH2-TR, ATP-AI, ATP-A II, ATP-A III, ATP-A IV, R5P-A, DHO-D, alphaGP-D, betaHOB-D, MAO, GL-D alphaGP-A I, alphaGP-A II, betaGP-A II, N.EST-A. No significant variations in the different enzymatic activities were found for the ichthyosis vulgaris and non-bullous C.I.E. cases. More pronounced variations were found in X-linked ichthyosis, with a decrease in C-A, IC-D, R5P-A, betaHOB-D, GL-D, alphaGP-A II and N.EST-A activity. Succinic dehydrogenase activity has been reported in the literature to be reduced in ichthyosis vulgaris and bullous C.I.E. However, the results obtained for our patients showed equal or higher reaction levels than in the controls.
Testis cancer and ichthyosis are both relatively rare diseases. Hence the finding of six individuals with both these conditions in a small population with testicular cancer is highly conspicuous and indicates some kind of connection among such persons. Despite the identical clinical appearances of their ichthyoses, three of the ichthyotic subjects had no measurable activity of the enzyme, steroid sulfatase (STS) in leucocytes, a distinct characteristic of recessive X-linked ichthyosis (RXLI). However, the remaining three subjects had normal STS activity, a strong indicator of autosomal dominant ichthyosis (ADI). The STS activity in patients with testicular cancer who do not have ichthyosis (N = 30) was also within the normal range. The patients with testicular cancer with no skin disease had elevated serum levels of 4-androstenedione (4-AD), follicle stimulating hormone (FSH), and luteinizing hormone (LH) but had reduced levels of estrone and estrone sulfate. The other serum parameters measured did not significantly differ from normal levels. In essence, the hormone levels obtained for the patients with ichthyotic testicular cancer followed the same pattern, although their dehydroepiandrosterone sulfate (DHEAS) and estrone sulfate levels tended to be slightly higher than normal. However, no conspicuous aberrations in any of the parameters examined were observed, and why men with ichthyosis are at high risk for testicular cancer remains an unresolved issue.
The stratum corneum of individuals with ichthyosis vulgaris, sex-linked ichthyosis, lamellar ichthyosis, and epidermolytic hyperkeratosis has been studied. An alpha x-ray diffraction pattern has been observed in all specimens and the solubility of the alpha fibrous proteins appears to be the same as in normal stratum corneum. Sodium dodecyl sulfate (SDS)-polyacrylamide electrophoresis of the fibrous proteins showed variable patterns within the different types of ichthyosis, while amino acid analyses of the proteins were quite similar to those from normal stratum corneum. These data suggest that the fibrous proteins in the ichthyosis are not abnormal, but further studies on the individual polypeptide chains are necessary to rule out more subtle differences.
A male patient presented with a congenital ichthyosis clinically characterized by generalized erythroderma, fine scaling on the trunk and palmoplantar hyperkeratoses with severely affected nails. The acanthotic epidermis was characterized by hyperproliferation with a large quantity of mitoses and extremely suppressed keratinization without a normal granular layer. The horny layer was parakeratotic and contained remnants of cell debris and lipid droplets. Ultrastructurally the prickle cell layer was characterized by binuclear cells, oedematization of the keratinocytes and isolated dyskeratotic cells. Some suprabasal cells showed unusual morphological features, containing nuclei with cytoplasmic pseudoinclusions, sometimes leading to a complete disintegration of the nuclear structure, and bowl- and lens-shaped accumulations of a filamentous material. Instead of normal tonofibrils, the aggregated material consisted of fine interlacing filaments. The latter are compared with the filamentous shells in ichthyosis hystrix Curth-Macklin and congenital reticular ichthyosiform erythroderma. The clinical symptomatology--congenital ichthyosis, growth retardation, secondary hypogonadism, hepatomegaly--and the ultrastructural characteristics of the keratinization disorder indicate that the present case cannot be considered as a subtype of the recessively inherited ichthyosis congenita group, but suggest a new syndrome as a separate nosologic entity.
In extracts of scales of different forms of ichthyosis, disc-electrophoretic separation of water soluble proteins was performed. Number and position of the protein bands correspond with number and position of the bands of extracts of normal keratin and psoriatic scales. However, in comparison to normal keratin, all examined forms of ichthyosis showed in zone II the enriched bands Nos. 6 and 7. This permits a distinct differentiation from psoriasis in which in zone II the bands Nos. 9 and 10 are enriched. In congenital ichthyosiform erythroderma and in ichthyosis combined with atopic dermatitis, in zone III the bands, containing gamma globulins, are enriched as an expression of the concomittant exudative process. The protein content of scale extracts of ichthyosis is 2 to 5 times lower than the one of psoriasis.
In the heterogeneous group of recessive congenital ichthyoses the disorder of desquamation seems to be a basic problem. Desquamation is strongly dependent on the normal lipid metabolism of the keratinocytes. We describe a group of patients who have a typical clinical picture of large scale ichthyosis and cholesterol clefts in the thickened corneal layer, evidencing a disturbance of the lipid metabolism of the skin. The corneocytes also show a thin or absent cornified envelope, which could indicate a disturbance of protein synthesis. These patients have a severe ichthyosis, but good general health and no associated symptoms. This disorder has recently been named 'ichthyosis congenita type II' by the Heidelberg group on the basis of electron microscopic findings. According to the present examination this group corresponds clinically to the currently used diagnosis 'lamellar ichthyosis'.
Clinical, light-microscopic, and electron-microscopic features of a new type of ichthyosis are presented. The ichthyotic disease of a 75-year-old woman appeared in early childhood as dry and scaly skin. It slowly progressed to thickened and folded hyperkeratosis on her neck and axillae. The skin on the other parts of her body was shiny, red and hard. Her physical development was normal. Light microscopy showed acanthosis and papillomatosis with hyperkeratosis. The granular cells were vacuolated. Electron microscopy revealed diagnostic changes, i.e., concentric or parallel lamellar membrane structures and amorphous material in upper epidermal cells. Corresponding lamellar material was also seen in the cornified cells. The keratinosomes were abnormal and a hypothesis is presented indicating that a defect in keratinosome formation results in vacuolization and abnormal desquamation in this disease. According to the current classification, the present type of ichthyosis is one subgroup of lamellar ichthyosis. We have called it ichthyosis with laminated membrane structures, because they are electron-microscopically diagnostic. The mode of inheritance is unknown.
Ichthyosis vulgaris is an autosomal dominant disorder of keratinization characterized histologically by absent or reduced keratohyaline granules in the epidermis and mild hyperkeratosis. The basic defect in ichthyosis vulgaris is unknown. We have tested for the presence of filaggrin and its precursor, profilaggrin, in the epidermis of affected and unaffected individuals from 2 families with ichthyosis vulgaris and correlated its presence and relative quantity with ultrastructure findings in the same individuals. Filaggrin was present on stained sodium dodecyl sulfate gels and immunoblots of epidermal proteins from controls and unaffected family members. It was absent from the more severely affected individuals in each family and reduced in intensity in the less severely affected family members. Immunohistology in controls showed localization of filaggrin-related protein in the stratum corneum and within the granular layer. In contrast, tissue from affected individuals showed little or no reaction. Electron microscopic studies showed that keratohyaline granules were absent in 3 severely affected individuals, and reduced in number in the others. The relative amount of keratohyalin by electron microscopy correlated with the amount of filaggrin detectable on immunoblots. The stratum corneum was thicker than in normals but showed the typical "keratin pattern" staining suggesting that filaggrin is not essential for keratin filament aggregation and may have another function in vivo. We have demonstrated that the structural proteins, profilaggrin and filaggrin, are reduced or absent in 5 patients from 2 pedigrees with ichthyosis vulgaris. This biochemical abnormality correlates with the morphologic reduction in the amount of keratohyalin, and with the clinical severity of the disorder.
An infant with congenital ichthyosis and deafness developed Hirschsprung's disease. No evidence of keratitis was present. No previous cases of ichthyosis have been associated with aganglionic megacolon. Although no corneal changes were observed, we believe that the clinical features of ichthyosis and deafness suggest the diagnosis of KID (keratitis, ichthyosis, deafness) syndrome. Whether corneal changes would have occurred is unknown, since the infant died of malnutrition and infectious complications.
Occurrence of ichthyosis and malignancy together is unusual. An 18-year-old patient suffering from congenital ichthyosis was found to have a medulloblastoma of cerebellum. A short review of the literature of cases of tumors with ichthyosis, and neurological syndromes with ichthyosis is presented.