Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “ICHTHYOSIS”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 181 records · Page 10Linked to original sources
PubMed2002

[Successful topical cyclosporin A in the therapy of progressive vascularising keratitis in keratitis-ichthyosis-deafness (KID) syndrome (Senter syndrome)].

BACKGROUND: The keratitis-ichthyosis-deafness (KID) syndrome (Senter Syndrome) and its major criteria erythrokeratodermia, neuro-sensoric deafness and vascularising keratitis were defined in 1981. Several cases have been described since 1915, but up to now no causal therapy of this disease with sporadic occurrence has been found. Clinical experience using systemic Cyclosporin A (CsA) in the dermatological therapy of the KID syndrome differs. Up to now there has been no report on the use of topical CsA eye drops in the therapy of vascularising keratitis. HISTORY AND SIGNS: We report on a case of keratitis, ichthyosis and deafness (KID syndrome) in a 36-year old male. Both eyes were suffering from recurrent corneal ulcers (ulcus serpens corneae). No improvement had been observed on topical or systemic medication (including lubricants, antibiotics, steroids, etc.) during a history of more than two years. THERAPY AND OUTCOME: Topical CsA 2 % (eye drops, 3 times daily) was administered in addition to lubricants. After 3 months the deep corneal neovascularisations were significantly reduced. The corneal ulcer was closed and visual acuity increased from 20/400 (OU) to 20/100 (OD) and 20/200 (OS), respectively. CONCLUSION: A dose-dependent keratinocyte growth inhibition was found in vitro for cyclosporin A using ichthyosis skin samples. The reduction of activated T-lymphocytes and the resulting reduced HLA-Class-2 expression of conjunctiva and cornea as well as the inhibition of activated T-Cells in the lacrimal gland might be responsible. Nevertheless, the effect of topical CsA on the vascularizing keratitis in the KID syndrome is unknown.

Adult↗
PubMed1986

[Ichthyosis uteri. Case report on a rare clinical entity].

The present paper communicates an observation of a squamous cell carcinoma of the corpus uteri at the base of an ichthyosis uteri. The ichthyosis uteri developed over a period of just three years from a discrete squamous cell metaplasia of the endometrial body in the presence of slight nonspecific endometritis. It is recommended that when ichthyosis uteri is detected the uterus should be removed, since the changes cannot be eliminated by curettage and there is a risk of malignant degeneration within a relatively short time.

Aged↗
PubMed1995

Low maternal serum unconjugated estriol during prenatal screening as an indication of placental steroid sulfatase deficiency and X-linked ichthyosis.

Placental sulfatase deficiency is an X-linked metabolic defect that occurs in about 1 in 2,000 to 5,000 males. It is associated with congenital ichthyosis. In this report, the authors document a case of placental sulfatase deficiency detected during routine prenatal screening of maternal serum by the triple test: serum alpha-fetoprotein (AFP), unconjugated estriol (uE3), and human chorionic gonadotropin (hCG). At 16-weeks gestation, her AFP was 20.9 IU/mL (multiple of the median [MOM] 0.83), hCG was 14.4 mIU/L (MOM 0.42) and her uE3 was 0.01 nmol/L (MOM 0.01). The extremely low uE3 indicated a possible placental sulfatase deficiency, congenital adrenal hypoplasia, or other unknown abnormality. On receiving this information, the obstetrician obtained a family history that was consistent with ichthyosis in the maternal grandfather and his siblings. Biochemical analysis of placenta documented the lack of sulfatase activity. This case illustrates that an extremely low level of maternal uE3 should prompt investigation of the family for evidence of X-linked ichthyosis associated with placental sulfatase deficiency.

Adult↗
PubMed2003

Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huët anomaly.

The nature of the wild-type gene product at the mouse ichthyosis (ic) locus has been of great interest because mutations at this locus cause marked abnormalities in nuclear heterochromatin, similar to those observed in Pelger-Huët anomaly (PHA). We recently found that human PHA is caused by mutations in the gene (LBR) encoding lamin B receptor, an evolutionarily conserved inner nuclear membrane protein involved in nuclear assembly and chromatin binding. Mice homozygous for deleterious alleles at the ichthyosis (ic) locus present with a blood phenotype similar to PHA, and develop other phenotypic abnormalities, including alopecia, variable expression of syndactyly and hydrocephalus. The ic locus on mouse chromosome 1 shares conserved synteny with the chromosomal location of the human LBR locus on human chromosome 1. In this study, we identified one nonsense (815ins) and two frameshift mutations (1088insCC and 1884insGGAA) within the Lbr gene of mice homozygous for either of three independent mutations (ic, ic(J) and ic(4J), respectively) at the ichthyosis locus. These allelic mutations are predicted to result in truncated or severely impaired LBR protein. Our studies of mice homozygous for the ic(J) mutation revealed a complete loss of LBR protein as shown by immunofluorescence microscopy and immunoblotting. The findings provide the molecular basis for the heterochromatin clumping and other distinct phenotypes caused by ic mutations. These spontaneous Lbr mutations confirm the molecular basis of human PHA and provide a small animal model for determination of the precise function of LBR in normal and pathological states.

Animals↗
PubMed2006

Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3.

We report the identification of mutations in a non-syndromic autosomal recessive congenital ichthyosis (ARCI) in a new gene mapping within a previously identified locus on chromosome 19p12-q12, which has been defined as LI3 in the OMIM database (MIM 604777). The phenotype usually presents as lamellar ichthyosis and hyperlinearity of palms and soles. Seven homozygous mutations including five missense mutations and two deletions were identified in a new gene, FLJ39501, on chromosome 19p12 in 21 patients from 12 consanguineous families from Algeria, France, Italy and Lebanon. FLJ39501 encodes a protein which was found to be a cytochrome P450, family 4, subfamily F, polypeptide 2 homolog of the leukotriene B4-omega-hydroxylase (CYP4F2) and could catalyze the 20-hydroxylation of trioxilin A3 from the 12(R)-lipoxygenase pathway. Further oxidation of this substrate by the fatty alcohol:nicotinamide-adenine dinucleotide oxidoreductase (FAO) enzyme complex, in which one component, ALDH3A2, is known to be mutated in Sjögren-Larsson syndrome (characterized by ichthyosis and spastic paraplegia), would lead to 20-carboxy-(R)-trioxilin A3. This compound could be involved in skin hydration and would be the essential missing product in most forms of ARCI. Its chiral homolog, 20-carboxy-(S)-trioxilin A3, could be implicated in spastic paraplegia and in the maintenance of neuronal integrity.

Algeria↗
PubMed1983

New observations on the fine structure of lamellar ichthyosis and the effect of treatment with etretinate.

Light and electron microscopy were used to study specimens from four patients suffering from lamellar ichthyosis. Three of these patients had been treated with etretinate for 10 months. Biopsy specimens taken from the patients before treatment showed hyperkeratosis with focal parakeratosis, a thickened granular layer in which the cellular content of tonofibrils and keratohyalin was moderately diminished, and acanthosis with increased cellular activity. During treatment with etretinate there was moderate clinical improvement. The most conspicuous microscopic change was thinning of the cornified layer. The intercellular spaces of the epidermis showed increased amounts of fine and coarse granular substance. The number of keratinosomes was increased. Stimulation of Langerhans' cells was observed. Two new ultrastructural findings in lamellar ichthyosis were discovered. First, the marginal band of the cornified layer was absent in conventional glutaraldehyde-osmium tetroxide fixation. Second, the corneocytes contained electron-lucent crystals. The treatment with etretinate did not influence these structures. The mechanism of action of retinoids in lamellar ichthyosis is discussed.

Adult↗
PubMed1993

Recessive ichthyosis congenita type IV.

Two patients suffering from ichthyosis with unusual ultrastructural features were examined. One was a 14-year-old boy with ichthyotic skin since birth. The ichthyosis was initially erythrodermic and later presented as follicular hyperkeratosis. The other patient was an ichthyotic child who died 2 days after birth of respiratory distress syndrome. Although apparently not consanguineous, both families came from the same relatively isolated rural area and autosomal recessive inheritance seems likely. Light microscopy did not yield diagnostic features, but the ultrastructural findings in the granular and horny cells showed diagnostic lamellar membrane packages. Identical ultrastructural features have previously been published in one prematurely born baby who died soon after birth and once in a prenatal diagnosis in the same family; the disease was termed "ichthyosis congenita type IV".

Adolescent↗
PubMed1994

Cicatricial ectropion in ichthyosis: a novel approach to treatment.

Four kinds of ichthyosiform dermatoses have been described. Only lamellar ichthyosis or ichthyosis congenita is associated with the development of ectropion and subsequent eye symptoms. Conservative treatments have been tried but surgical correction of the ectropion was ultimately required for symptomatic relief. Autografts have been used successfully, provided an available donor site can be found. Grafts taken from the arm, eyelids, postauricular skin, and groin have been used with success. An uncircumcised youth with total body involvement from ichthyosis developed bilateral upper and lower ectropion. The penile foreskin was the only possible suitable donor site because it seemed unaffected by the disease. A circumcision was performed and the foreskin divided into four separate full-thickness skin graft triangles to treat the four-lid ectropion. There was successful resolution of the eye symptoms and a watertight closure. To our knowledge, this is a unique case in which penile foreskin has been used to correct cicatricial ectropion.

Adolescent↗
PubMed1996

Congenital recessive ichthyosis unlinked to loci for epidermal transglutaminases.

Congenital recessive ichthyosis has a broad range of clinical presentations, which may be considered a spectrum of phenotypes with classic lamellar ichthyosis at one pole and classic congenital ichthyosiform erythroderma at the other. The identification of mutations in the transglutaminase-1 gene as a cause of lamellar ichthyosis implicates transglutaminases in other congenital recessive ichthyoses. We investigated two multiplex families with clinical manifestations between the two poles for linkage to the transglutaminase-1 locus on chromosome 14. Strongly negative lod scores prompted a search for linkage to two other epidermally expressed transglutaminases, transglutaminase-2 and transglutaminase-3, on chromosome 20. No evidence for linkage was found. These data confirm the hypothesis that the congenital recessive ichthyoses are genetically heterogeneous and in two families exclude two other transglutaminases that could be considered as candidate loci for at least some of the nonlamellar recessive ichthyoses.

Child↗
PubMed2003

An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits.

PURPOSE: We describe two brothers with generalized epilepsy, attention deficits, congenital ichthyosis, and Leri-Weill dyschondrosteosis who harbor an unusual Xp; Yq translocation chromosome, resulting in a novel contiguous gene syndrome because of deletion of genes from the distal short arm of the X chromosome. METHODS: Physical examination, neuropsychologic testing, EEG, and neuroimaging studies were performed. Because of their unusual phenotype, karyotyping, fluorescence in situ hybridization, and further molecular analyses were carried out to refine the break points of the underlying unbalanced sex chromosome rearrangement. RESULTS: The subjects had generalized epilepsy, X-linked ichthyosis, Madelung deformities, mesomelia, normal intelligence, and attention deficits. The brothers' karyotype was unbalanced; they inherited a maternal derivative X chromosome. Deleted distal Xp genes included short-stature homeobox on the X chromosome (SHOX), aryl sulfatase E (ARSE), variably charged X-chromosome mRNA gene A (VCX-A), and steroid sulfatase (STS). The final karyotype was 46,Y,der(X)t(X; Y)(p22.3; q11.2).ish der(X) (DXZ1+, KAL+, STS-, SHOX-) mat. CONCLUSIONS: Loss of distal contiguous Xp genes resulted in a syndrome comprising bony deformities, ichthyosis, attention problems, and generalized epilepsy. Candidate epilepsy genes within the deleted segment, such as ASMT, a gene involved in the final synthesis of melatonin, are discussed. Cytogenetic analyses should be included in the clinical evaluation of patients with generalized epilepsy and complex phenotypes.

Adolescent↗
PubMed1977

Acquired ichthyosis: multiple causes for an acquired generalized distrubance in desquamation.

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.

Adolescent↗
PubMed1978

Oral treatment of ichthyosis with an aromatic retinoid.

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.

Adolescent↗
PubMed1979

A syndrome of ichthyosis, hepatosplenomegaly and cerebellar degeneration.

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.

Aged↗
PubMed1981

X-linked recessive ichthyosis in three sisters: evidence for homozygosity.

A family with ichthyosis, severely affecting both men and women, is reported. The clinical, histological and genetic data are strongly suggestive of X-linked recessive ichthyosis. Assay of steroid sulphatase in cultured skin fibroblasts from two ichthyotic female patients revealed an absence of this enzyme and thus confirmed this diagnosis. To our knowledge, this is the first report of proven X-linked recessive ichthyosis in women.

Adult↗
PubMed1985

Vitamin A in skin and serum--studies of acne vulgaris, atopic dermatitis, ichthyosis vulgaris and lichen planus.

The concentrations of vitamin A and total carotenoids were measured in serum and skin of 61 patients with acne vulgaris, atopic dermatitis, ichthyosis vulgaris or lichen planus, and compared with those in 37 healthy subjects. The mean serum concentrations of retinol and retinol-binding protein were significantly decreased in patients with acne (P less than 0.01) and slightly increased in those with ichthyosis (P less than 0.05), but were otherwise normal. Serum carotenoid levels did not differ between patients and controls. Superficial shave biopsies from both involved and uninvolved skin were examined for the presence of retinol (vitamin A1), dehydroretinol (vitamin A2) and total carotenoids. The mean retinol concentration was increased in lichen planus lesions (P less than 0.05) and decreased in both acne skin (involved and uninvolved) and in lesions of atopic dermatitis (P less than 0.05). The mean dehydroretinol concentration was markedly increased in lesions of atopic dermatitis and lichen planus (P less than 0.01). No consistent abnormalities were found in skin of patients with ichthyosis vulgaris. The mean carotenoid concentration in the patients' skin did not differ significantly from that in the controls. The reduced retinol level in the skin of acne patients is probably explained by diminished supply of vitamin A from the blood. The abnormal ratio of retinol to dehydroretinol in lesions of lichen planus and atopic dermatitis is possibly due to changes in cutaneous vitamin A metabolism associated with epidermal hyperproliferation and inflammation.

Acne Vulgaris↗
PubMed1994

Clinical, light and electron microscopic features of recessive congenital ichthyosis type I.

Based on electron microscopic features, recessive congenital ichthyoses have recently been divided into four subgroups designated ichthyosis congenita (IC) types I, II, III and IV. Type II is characterized by cholesterol clefts in the horny cells, type III by perinuclear elongated membranes in the granular and horny cells, and type IV by masses of lipid membranes in granular and horny cells. Clear electron microscopic criteria for type I are lacking, although the presence of lipid droplets in the horny cells has been suggested as a criterion. In the present study we included ichthyosis patients with (i) recessive inheritance, (ii) erythrodermic fine scaling, (iii) lack of fine structural markers of IC types II-IV. Patients with ichthyotic syndromes were excluded. The case material consisted of 21 patients from 14 families. Eight were collodion babies at birth, but three were normal. Nine had ectropion, the flexures were affected in 12, and the palms and soles were thickened in all but one patient. On electron microscopy lipid vacuoles in the horny cells were common, but were absent in four patients. Changes in other lipid-related structures, including keratinosomes, were common. We conclude that currently type I can be diagnosed only by excluding the other types of ichthyosis. Clinically, IC type I corresponds to classical non-bullous congenital ichthyosiform erythroderma, but there is marked heterogeneity among affected individuals.

Adolescent↗
PubMed1990

Essential-fatty-acid metabolites in plasma phospholipids in patients with ichthyosis vulgaris, acne vulgaris and psoriasis.

The concentration of essential fatty acids (EFAs) and their metabolites in plasma phospholipids were measured by gas chromatography in normal individuals, and in patients with ichthyosis vulgaris, acne vulgaris or psoriasis. In all three patient groups, concentrations of arachidonic acid (20:4 omega 6) and docosapentaenoic acid (22:5 omega 6) were significantly below those in controls, suggesting that these abnormalities may occur in many skin diseases. Concentrations of dihomogammalinolenic acid (20:3 omega 6) were low in ichthyosis, normal in acne and elevated in psoriasis. Thus ichthyosis, acne and psoriasis each had a characteristic pattern of EFA metabolites.

Acne Vulgaris↗
PubMed1991

The phenotypic heterogenicity of bullous ichthyosis--a case report of three family members.

We present a family with an inherited disorder of cornification. The clinical features are much less severe and developed much later in life than is usual in bullous ichthyosis. Skin biopsy demonstrated epidermolytic hyperkeratosis, a feature typical of bullous ichthyosis. The family is reported both to highlight the wide interfamilial variation that may occur in this condition and the value of histology in classifying this form of ichthyosis.

Adult↗