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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.
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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.
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.
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.
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.
Corneal lesions in ichthyosis, here combined with alopecia, are rarely described in the literature. The present observation relates to two sisters, whose grandparents were siblings. The mode of inheritance is autosomal recessive, as is usual in ichthyosis congenita but is also observed in ichthyosis vulgaris. The clinical picture and the histological findings correspond to ichthyosis vulgaris.
The authors report about observations they made in two sisters. One sister showed a fibroid degeneration of the cornea, the other a band-shaped keratopathy respectively, together with an ichthyosis and an alopecia as a result of capillary fractures due to pili torti. An autosomal recessive hereditary transmission could be determined. The cutaneous lesion is either an ichthyosis vulgaris, the hereditary transmission of which could not yet be confirmed, or it is a transition form of ichthyosis vulgaris and congenita.
Four patients with acquired ichthyosis are described and the results of histological, histometric, autoradiographic and enzyme histochemical studies reported. Three of the patients were found to have in addition the following underlying diseases--malnutrition, reticulum cell sarcoma and panhypopituitarism. The fourth patient did not have any systemic disorder and the provoking cause of his ichthyotic condition remains obscure. Clinically these patients demonstrated the skin changes of autosomal dominant ichthyosis although their condition tended to fluctuate in severity. The various studies performed indicated that the histological and metabolic changes tended to reflect the clinical state of the patients and that these parameters did not differ significantly from those observed in atuosomal dominant ichthyosis.
An aromatic retinoid (Ro-10/9359) was used for oral treatment of five cases of ichthyosis (three lamellar, two X-linked. Complete clearing of the skin lesions was achieved in all five patients within 24.2 +/- 3.2 days (X-linked 21.75 +/- 6.5, lamellar 23 days). Histopathology showed reduction of the hyperkeratosis, and thickening of the granular layer. Clinical side effects were of mild intensity and included cheilitis, conjunctivitis and pruritus. All side effects were reversible upon reduction of the daily dosage. In three patients treatment was discontinued after clearing of lesions. Fresh lesions re-appeared 6 weeks later. One patient with X-linked ichthyosis developed two recurrences during maintenance treatment; one patient with lamellar ichthyosis was kept in complete remission for 9 weeks on a reduced daily dosage.
Two brothers are described with ichthyosis, hepatosplenomegaly and signs of cerebellar degeneration. The ichthyosis was similar to autosomal dominant ichthyosis both clinically and biochemically. No metabolic abnormality has yet been identified to account for this previously undescribed triad of abnormalities.
A family in which the mother and six of her sons present an ichthyosis of the vulgaris type has been analysed clinically, histologically and electron microscopically. Phenotypically the ichthyosis in the mother is purely of the dominant type, while that in all the affected sons shows, to varying degrees, features of both the dominant and X-linked recessive variants. The findings are interpreted as reasonably good evidence that the mother has transmitted to all her affected sons both the autosomal dominant and the X-linked recessive genes for ichthyosis. Although genetically this is a most unusual situation, it corresponds best to our findings.
We have recently observed 4 new particularly demonstrative cases and we think it is adequate to give a general conception in order to bring together in one and a single syndrom the ichthyosis linearis circumflexa Comel and the Netherton's syndrom. We also emphasize some features:--the possible association of ichthyosis linearis circumflexa with family epileptogenous encephalopathy;--a particular type of trichorrhexis which we named "frayed pili torti";--the usual lethality in males, with possible serious viral and pyococcic superinfection;--the characteristics of ichtyosiform erythroderma in the Netherton's syndrom. At the end of this study we confirm that a unicist theory which would consider Netherton's syndrom and ichthyosis linearis circumflexa as one and a single disease should be adopted.
In individuals free from skin diseases, the resistance and the neutralisation to alkali, and the quantity of lipids at the surface of the skin, are constitltional factors; these idiotypically (genetically) controlled factors are subject to paratypical (environmental) variations. The frequency of a reduced alkali neutralisation and of sebostasis in case of neurodermitis atopica and of ichthyosis vulgaris is not dealt with in the literature, but it results from literature findings that a pathologic alkali resistance is a facultative feature in neurodermitis atopica, while it is an obligatory one in ichthyosis vulgaris. The difference seems to be conditioned genetically. In neurodermitis atopica, the genotype is in itself of no pathogenic importance since the disease is induced exclusively by exogenous and endogenous, non hereditary agents. In ichthyosis vulgaris, the reduced alkali resistance falls into the pleiotropic character of the disease.
Ichthyosiform erythroderma is a rare phenomenon occurring in about 1/300,000 live births. Congenital unilateral ichthyosis, described in this case report, is a clinical variant of ichthyosis. Only five previous cases have been reported. In the patient described in this report, superimposed infection of the affected skin developed. Her immunologic system was intact. She manifested failure to thrive, in spite of an adequate caloric intake, and markedly delayed psychomotor development. This patient also demonstrated absorption from the affected dermis of topically applied urea hydrophilic base ointment. She died before her first birthday.