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PubMed1989

Ichthyosis. Reliability of clinical signs in the differentiation between autosomal dominant and sex-linked forms.

The reliability of clinical signs to differentiate between autosomal dominant ichthyosis (ADI) or sex-linked ichthyosis (SLI) were assessed. SLI was defined as ichthyosis in combination with steroid sulphatase deficiency. Age of onset and format of the scales were found to be reliable signs to ascertain the diagnosis of ADI or SLI. The ADI-like appearance in histopathology seems to be of little diagnostic value.

Adolescent↗
PubMed1976

Dominant ichthyosis vulgaris with an ultrastructurally normal granular layer.

It has been suggested that ultrastructural studies of keratohyalin granules in the granular layer of the skin can clearly distinguish the dominant type from the X-linked recessive type of ichthyosis vulgaris. The distinctive features are found in the granular layer and the keratohyalin granules. In the dominant form the granular layer is absent or reduced in size and the keratohyalin granules are minute and crumbly in appearance. In the recessive form the granular layer and keratohyalin granules are normal. A family which probably has dominant ichthyosis vulgaris is described. The stratum granulosum and keratohyalin granules as determined by both light and electron microscopy are normal. In view of the inconstant morphologic appearance of the stratum granulosum in ichthyosis vulgaris, it is suggested that distinction between the dominant and X-linked forms should not be based on the structural characteristics of the granular layer alone, but rather on a combined evaluation of the pedigree, clinical features and the appearance of the stratum granulosum.

Adolescent↗
PubMed1978

Ichthyosis vulgaris showing features of the autosomal dominant and X-linked recessive variants in the same family.

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.

Adolescent↗
PubMed1982

Ichthyosis in the Sjögren-Larsson syndrome.

The Sjögren-Larsson syndrome (SLS) is characterized by congenital ichthyosis, spastic dior tetraplegia and mental retardation. The inheritance is autosomal recessive. All 36 patients with SLS alive in Sweden in 1980 were studied with regard to ichthyosis. A slight or moderate generalized hyperkeratosis, less pronounced in the face, was already present at birth. Collodion-like membranes were never seen. The ichthyosis developed to its full extent during infancy. It was sometimes slight but most often moderate. Three types occurred in various combinations. The skin changes were concentrated in the neck, flexures and lower abdomen, in which regions the scales were often dark. The non-scaly hyperkeratosis produced characteristic and easily visible skin markings. Generalized erythema was rare, especially in adults. The DNA synthesis of the epidermis and the production of a horny layer were increased. Hair and nails were normal, as also was the ability to sweat.

Adolescent↗
PubMed1986

Autosomal dominant lamellar ichthyosis.

Five members of two generations of one family were affected with lamellar ichthyosis, suggesting autosomal dominant transmission. The clinical and histopathological characteristics of the cases described here are similar to those reported by Traupe et al. (1984) as autosomal dominant lamellar ichthyosis and thus confirm the existence of this new form of ichthyosis.

Genes, Dominant↗
PubMed1991

Interaction of filaggrin with keratin filaments during advanced stages of normal human epidermal differentiation and in ichthyosis vulgaris.

Filaggrin is a histidine-rich, basic protein whose name was first proposed based on its ability to aggregate intermediate filaments in vitro. Based on this in vitro observation, it has generally been assumed that filaggrin functions in vivo as a matrix protein which causes keratin filaments to become densely packed in the terminally differentiated cornified cells. Inconsistent with this view however, is the well-known observation that keratin aggregation appears to proceed normally in the affected epidermis of ichthyosis vulgaris patients despite a greatly reduced quantity of filaggrin. To address this issue, we used immuno-electron microscopy to localize filaggrin and its cross-reactive precursor, profilaggrin, in human and mouse epidermis, as well as in ichthyosis vulgaris epidermis. We found that the localization of filaggrin in lower cornified cells correlates precisely with the formation of aggregated keratin filaments, and the disappearance of filaggrin in upper cornified cells correlates precisely with the loosening of keratin filaments. Furthermore, we showed that, even in ichthyosis vulgaris, small amounts of filaggrin/profilaggrin are present as electron-dense deposits associated with keratin filaments in the granular cells, and that the localization of this small amount of antigen again correlates with the aggregation state of keratin filaments. These data strongly suggest that filaggrin is indeed involved in filament aggregation in vivo.

Animals↗
PubMed2005

Blau syndrome presenting with ichthyosis.

A 12-year-old girl presented with uveitis, joint disease and ichthyosis resembling ichthyosis vulgaris. A biopsy taken from the affected lower leg demonstrated sarcoidal-type granulomas. Synovial biopsy from the knee also showed granulomas. There was a family history of similar clinical features in the patient's younger sister. There were no other systemic features present to suggest a diagnosis of sarcoidosis or other granulomatous disease such as Crohn's disease or tuberculosis. The familial nature of the condition also made these diagnoses less likely. A clinical diagnosis of Blau syndrome was made. Blau syndrome is an uncommon sarcoidosis-like multisystem autosomal-dominant granulomatous disorder caused by mutations in the CARD15 gene. This gene has also recently been found to be a factor in the development of psoriatic arthritis and Crohn's disease. Although many forms of skin involvement have been described in Blau syndrome, this is the first case described of ichthyosis as the primary skin manifestation.

Child↗
PubMed1992

Ichthyosis: mechanisms of disease.

The disorders of cornification (ichthyoses) comprise acquired and inherited disorders characterized clinically by generalized scaling and histologically by hyperkeratosis. They may arise through defects in the production or maintenance of a normal cornified cell compartment, or both. The stratum corneum is composed of protein-enriched and lipid-depleted corneocytes ("bricks") surrounded by an intercellular domain ("mortar") composed of hydrophobic, lipid-enriched membrane bilayers, and containing desmosomes and a limited array of hydrolytic enzymes. Mechanisms whereby a genetic defect involving either the bricks or the mortar may result in abnormal stratum corneum retention are discussed using ichthyosis vulgaris and recessive X-linked ichthyosis as examples. In addition, epidermal hyperproliferation, which floods the cornified cell compartment with incompletely formed units, results in hyperkeratosis. To date, no primary disorders of epidermal hyperproliferation have been defined. Recent work, however, demonstrates that stratum corneum barrier function regulates epidermal DNA synthesis. For example, in essential fatty acid deficiency, barrier dysfunction is responsible at least in part ror the epidermal hyperproliferation. Defective barrier function due to defective lamellar body secretion may also underlie the phenotypic changes after birth in harlequin ichthyosis; that is, from the massive, constrictive hyperkeratosis of the newborn to an exfoliative erythroderma in survivors. The mechanisms whereby specific defects in cornification result in generalized scaling disease are only beginning to be defined. Yet, even at this early stage, the view of the stratum corneum as a tightly organized structure whose function is highly regulated is emerging. Hence, the disorders of cornification should provide important insights into stratum corneum structure and function.

Humans↗
PubMed1993

Mitotic Langerhans cell as a possible sign of activation in ichthyosis.

The fine structure of Langerhans cells (LC) in four rare types of ichthyosis, namely recessive ichthyosis congenita type II, III and IV and ichthyosis hystrix Curth-Macklin was examined. Signs of LC activation were observed in eight of 21 patients. In IC type IV, the rare occurrence of a mitotic LC was observed. It is possible that LCs are secondarily activated in keratinization disorders.

Humans↗
PubMed1988

Value of looking at leukocytes in every case of ichthyosis.

A three-year old patient had ichthyosis and neutral lipid storage disease (Chanarin-Dorfman syndrome), characterized by congenital ichthyosiform erythroderma and leukocyte vacuoles. He did not show any of the internal system involvement that was found in previously described cases. Patients with this syndrome demonstrate a great variability of clinical involvement. The affliction may be very mild as in our case or it may lead to rapid death, as with the patient's brother born a Harlequin baby, who only survived 5 days. Because of this wide spectrum of clinical variability mild cases might escape diagnosis. It is, therefore, suggested that every case of ichthyosis should have a peripheral blood smear evaluation with special attention to the morphology of the leukocytes. Our case clearly demonstrates the value of such a screening examination. Although the patient had been under treatment for almost 3 years, only screening examination of blood smears of all the patients with ichthyosis finally led to the correct diagnosis.

Child, Preschool↗
PubMed1986

Ichthyosis of steroid sulphatase deficiency. Clinical study of 76 cases.

A detailed clinical study of 76 males with steroid sulphatase deficiency confirmed the ichthyosis of this disorder to be identical with the classical descriptions of recessive X-linked ichthyosis. The appearance of regular ichthyotic scaling seems in most instances to be heralded by a general peeling of the skin. This characteristic feature was registered between age 1 and 3 weeks in 19 of 21 young boys followed due to a placental steroid sulphatase deficiency. Later on, polygonal scales giving a 'dirty' appearance were most pronounced on the distal parts of the body and extensor aspects of the extremities. The ichthyosis aggravates through childhood into adult age.

Adolescent↗
PubMedDate not supplied

Prenatal diagnosis of X-linked ichthyosis using molecular cytogenetics.

A case is presented in which X-linked ichthyosis was diagnosed prenatally using fluorescence in situ hybridization. Fetal sex was known by second trimester ultrasound in a woman with very low second trimester MSUE3. All of the 15 maternal peripheral blood metaphase spreads examined displayed two hybridization signals on one X chromosome (one in the steroid sulfatase region (Xp22.3) and one in the centromeric region), but only one hybridization signal (in the X centromeric region) on the other X chromosome. Thus, one of the X chromosome had a deletion in the Xp22.3 region, a result which was consistent with carrier status for steroid sulfatase deficiency and X-linked ichthyosis. In the 15 metaphase spreads that were examined from the amniotic fluid sample, the X chromosome displayed one hybridization signal in the control region, but no hybridization signal in the steroid sulfatase region. Thus, the X chromosome of this male fetus had a deletion in the steroid sulfatase region, a result that was consistent and demonstrated postpartum X-linked ichthyosis.

Adult↗
PubMed1981

Steroid sulfatase of human leukocytes and epidermis and the diagnosis of recessive X-linked ichthyosis.

Patients with recessive X-linked ichthyosis, one of the inherited types of excessive stratum corneum cohesion, have deficient steroid sulfatase in fibroblasts grown from their dermis. Because of the expense and long period required to grow such cells, we have assayed this enzyme in peripheral blood leukocytes and found it to be undetectable in those from patients with this type of ichthyosis, but normal in those from patients with other hereditary or acquired types of ichthyosis. In addition, steroid sulfatase activity is less in leukocytes from women who are carriers of this disease than normal women, and this assay can be used to detect such carriers. Despite previous studies demonstrating that the gene for this enzyme escapes the inactivation of other x-chromosome genes, normal women have leukocyte steroid sulfatase activity only 1.3 times that of normal men, suggesting that some gene dosage compensation occurs. Normal human epidermis, the tissue most affected clinically, also expresses steroid sulfatase activity. The epidermal enzyme is similar in its subcellular localization, its molecular size, and kinetically to that of placenta, leukocytes, and fibroblasts.

Cells, Cultured↗
PubMed1984

Elevated n-alkanes in congenital ichthyosiform erythroderma. Phenotypic differentiation of two types of autosomal recessive ichthyosis.

Previously considered to represent a single genetic disorder, autosomal recessive ichthyosis was examined in clinical and lipid biochemical studies of 18 patients with this condition and instead disclosed to be two distinct diseases. Six patients displayed clinical features of classical lamellar ichthyosis (LI), which is characterized by monomorphous features, including large, dark, platelike scales, severe ectropion, and a uniformly severe, unremitting course. 11 patients displayed clinical features of nonbullous congenital ichthyosiform erythroderma (CIE) characterized by fine white scales, prominent erythroderma, a milder course, and a variable prognosis. CIE could be separated biochemically from LI by the invariable presence of elevated quantities of n-alkanes in scale (CIE, 24.8 +/- 1.9% vs. LI, 7.2 +/- 1.6%, and normal, 6.5 +/- 0.9%), which suggested a primary disorder in neutral lipid metabolism. In light of the distinctive clinical features of each, these biochemical studies indicate that autosomal recessive ichthyosis comprises two distinct disorders.

Alkanes↗
PubMed2005

Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer.

Harlequin ichthyosis (HI) is a devastating skin disorder with an unknown underlying cause. Abnormal keratinocyte lamellar granules (LGs) are a hallmark of HI skin. ABCA12 is a member of the ATP-binding cassette transporter family, and members of the ABCA subfamily are known to have closely related functions as lipid transporters. ABCA3 is involved in lipid secretion via LGs from alveolar type II cells, and missense mutations in ABCA12 have been reported to cause lamellar ichthyosis type 2, a milder form of ichthyosis. Therefore, we hypothesized that HI might be caused by mutations that lead to serious ABCA12 defects. We identify 5 distinct ABCA12 mutations, either in a compound heterozygous or homozygous state, in patients from 4 HI families. All the mutations resulted in truncation or deletion of highly conserved regions of ABCA12. Immunoelectron microscopy revealed that ABCA12 localized to LGs in normal epidermal keratinocytes. We confirmed that ABCA12 defects cause congested lipid secretion in cultured HI keratinocytes and succeeded in obtaining the recovery of LG lipid secretion after corrective gene transfer of ABCA12. We concluded that ABCA12 works as an epidermal keratinocyte lipid transporter and that defective ABCA12 results in a loss of the skin lipid barrier, leading to HI. Our findings not only allow DNA-based early prenatal diagnosis but also suggest the possibility of gene therapy for HI.

ATP-Binding Cassette Transporters↗
PubMed1992

Temporal bone findings in keratitis, ichthyosis, and deafness syndrome. Case report.

In 1981, the term KID syndrome was suggested for patients with congenital ichthyosis associated with deafness and keratitis. We had a chance to examine the temporal bone of an infant with this syndrome. This patient showed no auditory brain stem response in either ear. Temporal bone studies revealed cochleosaccular abnormality. These findings are offered as a possible explanation for the patient's deafness. The pathologic inner ear findings of congenital deafness syndromes associated with ichthyosis have been heretofore reported in Refsum's syndrome and in a case with universal alopecia. In these cases, the temporal bone pathologic findings were a result of cochleosaccular abnormality. From our case and previous reports, it is suggested that the deafness associated with congenital ichthyosis might be the result of cochleosaccular abnormality.

Cochlea↗
PubMedDate not supplied

Ocular manifestations of congenital lamellar ichthyosis.

PURPOSE: To describe the ophthalmic manifestations in a series of children with congenital lamellar ichthyosis. These cases presented with varying types of eyelid abnormality associated with the systemic disease. The clinical features and ophthalmic management were studied. METHODS: The case histories of three children presenting to the oculoplastic clinic were reviewed. All were diagnosed with congenital lamellar ichthyosis and under the care of the Dermatology department. Family history and pedigree analysis was performed to determine mode of genetic inheritance. Ocular examination for visual acuity, eyelid and eyelash malposition, lid function and closure were carried out. Corneal examination including tests for exposure was also done. RESULTS: All three patients had eyelid position abnormalities from the systemic disease. There was no clinical evidence of conjunctival involvement. One patient required full thickness skin grafts to treat corneal exposure secondary to lower lid ectropion. One had mild lower lid ectropion but without corneal exposure. The third case had the unusual finding of inward turning of the anterior lamella of the upper eyelid with a marked lash ptosis and only mild ectropion of the lower lid. CONCLUSIONS: Congenital lamellar ichthyosis is a heterogeneous disorder with phenotypic variability. The most common eyelid abnormality is cicatricial ectropion of the upper and mainly lower eyelids. Most cases are managed conservatively although in severe cases secondary corneal exposure may require surgical correction. In this condition, to the best of our knowledge, the tendency for the eyelids to turn inwards has not previously been described.

Child↗
PubMed2004

Acquired ichthyosis associated with systemic lupus erythematosus.

Acquired ichthyosis is an uncommon disease, it is characterized by symmetric scaling of the skin, which ranges from minor roughness and dryness to the desquamation of large plaques. It has been associated with various systemic diseases, although malignant conditions, especially Hodgkin's lymphoma are the most commonly cited. Drugs, HIV infection and autoimmune diseases such as dermatomyositis and mixed connective tissue disease have also been associated, and it has only rarely been found among patients with systemic lupus erythematosus (SLE). Herein, we report a patient with active SLE who developed a generalized acquired ichthyosis corroborated with skin biopsy, which completely disappeared after treatment. The association of autoimmune conditions with acquired ichthyosis could indicate that an abnormal host immune response, probably against components of the granular cell layer in particular the keratohyalin granules, may have a role in the pathogenesis. Thus, this finding may be a relevant cutaneous marker for an autoimmune origin.

Administration, Oral↗