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PubMed1980

Sex-linked ichthyosis and placental sulphatase C deficiency.

Ichthyosis was diagnosed in six boys born from pregnancies in which placental steroid sulphatase deficiency was present. In four cases the diagnosis of sex-linked ichthyosis was certain, in the other two the ichthyosis was probably of the sex-linked type. No arylsulphatase C activity could be demonstrated histochemically either in the epidermis of these boys, or in the epidermis of adults with sex-linked ichthyosis, whilst it was present in normal controls. In cultured skin fibroblasts steroid-sulphatase activity was extremely low. We conclude that deficiency of steroid sulphatase C or arylsulphatase C or a third functionally linked enzyme is an important factor in the pathogenesis of sex-linked ichthyosis.

Adult↗
PubMed1985

Prenatal diagnosis and variable presentation of recessive X-linked ichthyosis.

Three infants with X-linked ichthyosis have been observed following pregnancies in which placental sulphatase deficiency (PSD) was suggested prenatally by low oestrogen excretion and an abnormal urinary steroid excretion pattern. This was confirmed in two cases by the absence of placental enzyme activity. In one case labour was spontaneous but all deliveries required Caesarean section. At 8 months the first infant showed an eczema in an atopic distribution but when seen at 5 years had typical X-linked ichthyosis. The skin of the second child peeled extensively at the age of 2 days but was not troublesome for 2 years, when ichthyosis vulgaris was diagnosed on clinical grounds. This pattern has persisted for 3 years. The third infant showed a mildly scaly skin in the neonatal period but at 3 months the features and distribution of X-linked ichthyosis were apparent. X-linked ichthyosis may have a variable presentation which is not always apparent at birth.

Adult↗
PubMed1981

Stratum corneum lipids in disorders of cornification: increased cholesterol sulfate content of stratum corneum in recessive x-linked ichthyosis.

Activity of the microsomal enzyme, steroid sulfatase, is absent in keratinocytes, fibroblasts, and leukocytes of patients with recessive x-linked ichthyosis. This study was undertaken to determine if cholesterol sulfate, a substrate of this enzyme, accumulates in the pathological scale of these patients. Scales from 8 patients with recessive x-linked ichthyosis, 10 patients with other forms of ichthyosis, and normal human outer stratum corneum were extracted with chloroform/water (1:2:0.8 by vol) and lipids were fractionated by quantitative, sequential thin-layer chromatography. Cholesterol sulfate was identified by cochromatography in several solvent systems, by its staining characteristics, by biochemical analysis, and by mass spectrometry. The mean cholesterol sulfate content of recessive x-linked ichthyotic scale was 12.5 +/- 0.8% of the total lipid, a fivefold increase over normal (P less than 0.0025), whereas the cholesterol sulfate content of other ichthyotic scale was normal. This increase in cholesterol sulfate content was accompanied by a decrease in total neutral lipids (P less than 0.0025) and free sterols (P less than 0.025) but no change in sterol esters or total sterols. These results demonstrate that deficiency of steroid sulfatase in recessive x-linked ichthyosis results in excessive accumulation of a substrate, cholesterol sulfate, in the pathologic scale, which may underly the pathogenesis of the scaling in this disorder. Measurement of cholesterol sulfate content in scale provides an alternative method to enzymatic assay for the diagnosis of this form of ichthyosis.

Adolescent↗
PubMed1999

A syndrome of congenital ichthyosis, hypogonadism, small stature, facial dysmorphism, scoliosis and myogenic dystrophy.

Rud syndrome formerly was considered as a genetically heterogeneous but distinct clinical entity with the manifestations of ichtyosis, hypogonadism, small stature, mental retardation, epilepsy and, infrequently, retinitis pigmentosa. The existence of such a syndrome has recently been dismissed based on a new understanding of the ichthyoses. We report on the clinical history of a 14-year-old boy with congenital ichthyosis, small stature, hypogonadism, facial dysmorphism, nystagmus, kypho-scoliosis and myogenic dystrophy. He was diagnosed as Rud syndrome but developed neither seizures nor mental retardation. However a cousin was mentally retarded. The ichthyosis was familial as five relatives had ichthyosis but no other features of Rud syndrome. The patient had a deletion of the steroid-sulfatase gene. He had neither chondrodysplasia punctata, nor Kallmann syndrome, two conditions which are part of the contiguous gene syndrome of the Xp22.3 region. Most case reports previously reported as Rud syndrome can now be reassigned under a contemporary ichthyosis classification that does not include Rud syndrome as a distinct entity. This case was clearly distinct from Refsum disease, Sjögren-Larsson syndrome and any of the other ichthyosis disorders that have been suggested as a replacement for Rud syndrome. Thus the case reported here appears distinct from any previously described, currently recognized syndrome.

Abnormalities, Multiple↗
PubMed2001

[Paraneoplastic acquired ichthyosis revealing non-Hodgkin's lymphoma].

BACKGROUND: Paraneoplastic ichthyosis is a rare affection generally associated with malignant hemopathy. CASE REPORT: A 61 year-old man was seen with a generalized ichthyosis associated with a palmoplantar hyperkeratosis developed over the last 2 years, and an axillary lymph node. Histology of the lymph node revealed a large cell anaplastic lymphoma. Both ichthyosis and palmoplantar keratosis totally disappeared three weeks after adenectomy, without any other treatment. DISCUSSION: This rapid and complete regression of ichthyosis, after the sole ablation of the involved lymph node confirmed the paraneoplastic nature of the disorders of the keratinization (ichtyosis, palmoplantar keratodermia). The review of the literature showed only one case characterized by a rapid disappearance of ichthyosis after surgical treatment of the malignant lymphoma.

Humans↗
PubMedDate not supplied

Topical N-acetylcysteine treatment in neonatal ichthyosis.

Unpredictable trancutaneous absorption of topically administered drugs and potential teratogenicity and toxicity of systemic drugs would make it mandatory to innovate more efficacious and less toxic drugs for the treatment of ichthyosis, which is not a fully curable disease in the neonatal period. In this article the clinical efficacy of 10% N-acetylcysteine emulsion in the topical treatment of congenital ichthyosis in a newborn was assessed, comparing simultaneously with 4% urea emulsion. After treating the skin of the left and right halves of the body with topical N-acetylcysteine and 4% urea, respectively, for nine days, the improvement was much more outstanding on the skin of the left half of the body when compared to the right half of the body. Topical N-acetylcysteine, to our knowledge, has not been used in a newborn with ichthyosis before, and this is the first report of a case of neonatal ichthyosis successfully treated with topical N-acetylcysteine. We conclude that 10% N-acetylcysteine emulsion, as an non-toxic and hypoallergic amino acid derivative, can be safely and efficaciously used in the topical treatment of neonatal ichthyosis, although the permanent cure may not always be possible.

Acetylcysteine↗
PubMed1986

Report of a family with an unusual expression of recessive ichthyosis. Review of 42 cases.

A family with a history of ichthyosis is described in which the type of scale was thin and fine, resembling that of ichthyosis vulgaris, but the inheritance is of the autosomal recessive type. We have reviewed our previous experience with 42 additional patients whose condition had been diagnosed as recessively inherited ichthyosis and conclude that there is considerable heterogeneity in the cutaneous manifestations. We suggest that it is not possible to classify all patients into categories such as lamellar ichthyosis or congenital ichthyosiform erythroderma, and it may be better to use a more general term such as recessive ichthyosis until specific causes can be established.

Adolescent↗
PubMed1984

Hyperlinear palms in atopic dermatitis: a manifestation of ichthyosis vulgaris?

It has recently been suggested that hyperlinear palms seen in atopic dermatitis are actually a manifestation of concomitant ichthyosis vulgaris. Patients with atopic dermatitis were examined in our clinic for the presence or absence of ichthyosis vulgaris and/or hyperlinear palms. While 70 percent of the patients with atopic dermatitis and ichthyosis did have hyperlinear palms, only 29 percent of the patients with atopic dermatitis and hyperlinear palms had concomitant ichthyosis vulgaris. These findings do not support the suggestion that hyperlinear palms in atopic dermatitis are a manifestation of concomitant ichthyosis vulgaris.

Adolescent↗
PubMed1983

[Posterior embryotoxon in ichthyosis].

Slit-lamp examinations were conducted in 17 patients with X-linked inchtyosis, 11 female carriers, and 9 patients with ichthyosis vulgaris. All patients with ichthyosis were under 21 years of age. Dystrophic alterations reported in the literature were lacking in all cases. In all 3 groups (X-ichthyosis, carriers and ichthyosis vulgaris) a posterior embryotoxon arc was observed with a higher frequency than in controls. This arc was always localized at 3 and/or 9 hours in the cornea periphery. The high incidence of posterior embryotoxon was statistically significant (X2 . 6,51) only for patients with X-linked ichthyosis.

Adolescent↗
PubMed1997

Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis.

The harlequin ichthyosis (ichq) mouse mutation arose spontaneously in 1989 in a colony of BALB/cJ mice at The Jackson Laboratory. Affected mice developed thick skin due to formation of compact, orthokeratotic scales that fractured over articular surfaces, secondary to bending. Harlequin ichthyosis mice on the inbred BALB/cJ background died between 9 and 12 days of age. Onset of the clinical phenotype corresponded with emergence of hair fibers from follicles at 5 days of age. There was marked proliferation of the root sheaths of anagen hair follicles, limited to the region within the dermis. Sebaceous glands were present but small compared with those of littermate controls. Emerging hair fibers were surrounded by a thick, compact sheath of cornified cells. Mutant skin contained large mitochondria with lamellar-shaped, electron-dense structures at the ultrastructural level. Keratohyalin granules were smaller and less pleomorphic than those in control mice. Lamellar bodies were not evident in either mutant or littermate control mice. Using a panel of antibodies to evaluate changes in keratinocyte differentiation, mouse-specific keratin 6 was overexpressed in the suprabasilar, hyperplastic epidermis. Loricrin expression, within the cytoplasm of cells in the stratum granulosum, decreased rapidly postmortem, unlike that in normal mice where it was stable for over 24 hours postmortem. Filaggrin expression, within granules of cells in the stratum granulosum, was prominent, corresponding to hypergranulosis evident by light microscopy in mutant mouse skin. Skin grafts from harlequin ichthyosis mice grafted onto immunodeficient nude mice maintained the phenotype for the 10-week observation period. The mutant gene locus mapped to the proximal end of mouse chromosome 19 and is inherited as a fully penetrant autosomal recessive gene. The harlequin ichthyosis mouse mutation is very similar to human type 2 harlequin ichthyosis for which it may be a good model.

Animals↗
PubMedDate not supplied

Harlequin ichthyosis: report of one case.

Harlequin ichthyosis, or harlequin fetus, is a relatively rare, severe form of congenital ichthyosis. Although the clinical features have been well described, very little is known about the pathogenesis, clinical course, appropriate treatment and prognosis of harlequin ichthyosis because most of these babies with harlequin ichthyosis die within a few weeks of life. We herein report a case of harlequin ichthyosis, which we believe is the first such case in Taiwan.

Female↗
PubMed1993

Harlequin ichthyosis. Variability in expression and hypothesis for disease mechanism.

BACKGROUND: Harlequin ichthyosis is an inherited skin disorder that usually results in death shortly after birth. Although the clinical features of this disorder are well described, the underlying molecular basis is not understood. In this article, we discuss the results of the latest histologic, immunochemical, and Western immunoblotting studies done in our laboratory and propose a hypothesis for molecular basis of this disorder. OBSERVATIONS: Previous experiments done in our laboratory show suggestive evidence for defective lipid synthesis and protein dephosphorylation in harlequin ichthyosis. Our latest study shows that the catalytic subunit of one of the most prevalent protein phosphatase, type 2A protein phosphatase, appears to be altered in some cases of type 2 harlequin ichthyosis. CONCLUSIONS: Based on these observations and the known functions of protein phosphatase in keratinocytes, we hypothesize that the underlying molecular basis of harlequin ichthyosis may be related to mutations affecting protein dephosphorylation. We further describe approaches by which this hypothesis can be tested.

Cells, Cultured↗
PubMed1998

Congenital ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis: a new genodermatosis?

Follicular atrophoderma is a rare anomaly observed mainly in the X-dominant form of chondrodysplasia punctata (Conradi-Hünermann-Happle syndrome) and in the X-linked dominant Bazex syndrome. We report on five Emirati sibs (three girls and two boys), 4-18 years old, with normal stature, diffuse congenital ichthyosis, patchy follicular atrophoderma, generalized and diffuse non-scarring hypotrichosis, and marked hypohidrosis. Steroid sulfatase activity, assessed in the two boys, was found to be normal. Electron microscopic studies of ichthyotic skin did not show any specific abnormality. The association of congenital diffuse ichthyosis with follicular atrophoderma and hypotrichosis has not been reported before. The patients were reminiscent of Bazex syndrome; however, ichthyosis is not a component of Bazex syndrome. We conclude that this syndrome of congenital ichthyosis with follicular atrophoderma represents a new autosomal recessive genodermatosis.

Abnormalities, Multiple↗
PubMed1996

Cuticle cell defects in lamellar ichthyosis hair and anomalous hair shaft syndromes visualized after detergent extraction.

BACKGROUND: The biochemical bases for fragility in most of the rare brittle hair shaft syndromes are unknown. The hypothesis being investigated in several syndromes is that the hair cuticle cells show defects in cross-linked protein features. Since transglutaminases stabilize protein structures by cross-linking them, hair from autosomal recessive lamellar ichthyosis patients lacking keratinocyte transglutaminase was examined to find whether this enzyme participates in hair shaft stabilization. METHODS: Hair shaft samples from patients afflicted with lamellar ichthyosis or several brittle hair syndromes were examined ultrastructurally by transmission electron microscopy after vigorous extraction with detergent and reducing agent to reveal cross-linked protein features. RESULTS: In hair cuticle cells from three patients with lamellar ichthyosis the marginal band (A layer) was present but nonuniform and subject to breakage, while in a fourth sample it was missing altogether. The exocuticle appeared less dense than in normal hair, consistent with extensive protein loss during detergent extraction. In cuticle cells from trichothiodystrophy hair, the exocuticle layer was essentially fully extractable in one sample, while in two others (from siblings) the exocuticle appeared less dense and the A layer was absent or greatly reduced in thickness. A sample of proximal trichorrhexis nodosa also displayed defects in cuticle cells, in which the endocuticle layer appeared subject to rupture. The outer cuticle cells in monilethrix hair displayed a thinning of the A layer and less dense exocuticle, while the cortex exhibited regions lacking remnant cell borders. Pili annulati hair displayed large gaps in the cortex, presumably reflecting the air-filled cavities characteristic of this syndrome, and wavy borders of some cuticle cells. CONCLUSIONS: Observations with autosomal recessive lamellar ichthyosis hair indicate that keratinocyte transglutaminase has a major role in maturation of the cuticle but appears unnecessary for stabilization of cell borders in the cortex. Defective cross-linking was also evident in cuticle cells of trichothiodystrophy and monilethrix.

Cross-Linking Reagents↗
PubMed1992

Congenital ichthyosis with hypogonadism and growth retardation--a new syndrome with peculiar ultrastructural features.

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.

Adult↗
PubMed1977

Disc-electrophoretic separation of water soluble proteins from scales of different forms of ichthyosis.

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.

Dermatitis, Atopic↗
PubMed1991

Recessive ichthyosis congenita type II.

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'.

Adolescent↗
PubMed2005

STS gene in a pedigree with X-linked ichthyosis.

To investigate the gene mutation in a pedigree with X-linked ichthyosis (XLI) and to explore the relationship between the mutation and its clinical manifestations, genomic DNA of affected members, the normal member of the pedigree and 50 unrelated normal members was extracted with a whole blood genomic DNA extraction kit and the DNA was used as a template for the polymerase chain reaction (PCR)-mediated amplification of exon 1 and exon 10 of the STS gene. hHb6 (human hair basic keratin) gene was used as the internal control. Our results showed that the STS gene was deleted in affected members in the pedigree with X-linked ichthyosis. The normal member of the pedigree and 50 unrelated normal members had no such deletion. The proband and his mother had products in the internal control after PCR amplification. The blank control had no product. It is concluded that deletion of the STS gene existed in this pedigree with X-linked ichthyosis, and it is responsible for the unique skin lesions of X-linked ichthyosis.

Adult↗