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At least 145 records · Page 8Linked to original sources
PubMed2001

[Pseudoainhum in lamellar ichthyosis].

INTRODUCTION: Pseudoainhum is an affection characterized by the appearance of a constricting band around a digit or limb which may lead to spontaneous amputation. There are various etiologies which can be either congenital or resulting from a concomitant disease. We report herein an original case which occurred during lamellar ichthyosis. CASE-REPORT: We present the case of a thirty-year-old woman affected by a severe form of lamellar ichthyosis who, in a few months, developed a pseudoainhum of the third left finger. Biological results were normal. X-rays of this finger showed distal resorption of the bone. The painful evolution and the absence of any conservative treatment compelled us to propose amputation of the third phalanx. DISCUSSION: Other cases of pseudoainhum have been observed in many disease responsible for vascular or neurological abnormalities. They can also result in physical traumatisms or be associated with many dermatoses, such as hereditary palmar and plantar keratodermas. As far as we know, this lesion has never been described during lamellar ichthyosis but could result in the keratinization disorders observed in this congenital ichthyosis.

Adult↗
PubMed1989

Secondary ichthyosis: report of 2 cases.

Two adolescent girls suffering from severe secondary ichthyosis in association with gross protein-energy malnutrition are reported. In one patient, it was sheer advanced malnutrition which appeared to be the cause of ichthyosis. The other subject seemed to have developed reversible gross ichthyosis secondary to severe malnutrition and the accompanying pulmonary tuberculosis. Acquired ichthyosis of such a magnitude as a result of malnutrition as the chief primary disease has not yet been recorded in the English medical literature.

Adolescent↗
PubMed1989

Cyclosporine in lamellar ichthyosis.

In an open trial, five patients with lamellar ichthyosis showed no response to four weeks of treatment with oral cyclosporine (cyclosporine A) (6 mg/kg/d). Histologic examination of lamellar ichthyosis revealed hyperkeratosis; psoriasiform acanthosis; dilated, tortuous capillaries; and a slight perivascular lymphocytic infiltrate. Immunofluorescence studies revealed, in the epidermis, normal numbers of T6+DR+ Langerhans' cells and an absence of T cells and intercellular adhesion molecule-1 expression. In the papillary dermis, there were prominent capillaries as detected by staining with anti-factor VIII-related antigen. The endothelial cells also expressed large amounts of HLA-DR and intercellular adhesion molecule-1, suggesting that they were activated. Only occasional Langerhans' cells were found in the dermis. Histologic and immunofluorescence findings were unchanged with cyclosporine therapy. The effects of cyclosporine on lamellar ichthyosis are contrasted with those reported for psoriasis. Since lamellar ichthyosis and psoriasis share similar features of epidermal hyperproliferation and the presence of activated, dilated, tortuous vessels, but differ in the lack of immunologic cellular activity, their contrasting response to cyclosporine suggests that the target of the action of cyclosporine is the immune system rather than the keratinocyte or the endothelium. However, other factors may have to be considered.

Adult↗
PubMed1989

[Dermatoglyphic characteristics in hereditary ichthyosis].

Examination of 530 dermatoglyphic patterns of the palms and fingers in 265 patients with 5 nosologic forms of hereditary ichthyoses (autosomal dominant ichthyosis vulgaris, X-linked, congenital, lamellar, epidermolytic ichthyoses) have revealed significant differences in the pattern intensities and in the incidence rate of certain types of these patterns, associated with this or that form of ichthyosis; abnormalities in the flexor wrinkles of the ridge skin have been observed in all the studied forms of the disease, except the X-linked condition. The studies have revealed an abnormal roughness of the papillae on the epidermal ridges in epidermolytic ichthyosis and an obliterated dermatoglyphic pattern in lamellar ichthyosis. The detected changes in the ridge skin and the dermatoglyphic phenotypes may be useful for the differential diagnosis of these conditions.

Chromosome Aberrations↗
PubMed1986

Acquired ichthyosis in a patient with adenocarcinoma of the breast.

Acquired ichthyosis and cutaneous metastases occurred in a 59-year-old black woman with adenocarcinoma of the breast. Acquired ichthyosis has been associated with "solid" tumors such as carcinomas of the lung, colon, and breast in only a few cases. Systemic diseases, medications, and malignancies associated with acquired ichthyosis are reviewed, and the need for a thorough clinical investigation of patients with acquired ichthyosis is stressed.

Adenocarcinoma↗
PubMed1982

HLA antigens in bullous epidermolysis, congenital ichthyosis and ectodermal dysplasia.

HLA-ABC antigen typing was carried out in 4 homozygous patients and 10 family members from three families with bullous epidermolysis, 7 homozygous patients and 19 family members of six families with ichthyosis, and 4 homozygous patients and 8 family members of 4 families with ectodermal dysplasia. The type of heredity was established on the basis of genetical evidence and the clinical picture. In bullous epidermolysis cases autosomal recessive heredity was detected in two families with congenital bullous epidermolysis, and autosomal heredity in two families with dystrophic bullous epidermolysis. The HLA-Aw 24, B5 combination, which was thought to be significant in epidermolysis bullosa, was found in one, B5 alone in two, out of the four families. In congenital ichthyosis autosomal recessive heredity was detected in two families out of five. In one, X-linked recessive heredity was found, and in two families X-linked recessive heredity could be supposed. In three families out of the five with congenital ichthyosis, the A2, B18 antigen combination was found. In a family where two infants died from the most severe form of ichthyosis, epidermolysis and psoriasis also occurred. In this family two grandfathers were brothers, and one of the two was a carrier of the Aw24, B5 combination. In the case of ectodermal dysplasia, in one out of four families X-linked recessive heredity, in another autosomal recessive heredity was detected. In two families X-linked recessive heredity could be supposed as only the male children were affected and also on the basis of data in the literature. The HLA-A26, B38 antigen combination occurred in three of these four families.

Child↗
PubMed1980

[Serum IgE level in autosomal dominant and X chromosomal recessive ichthyosis vulgaris].

Thirty-five patients with ichthyosis were classified according to the clinical features, the genetic and histological findings, the association with manifestations of atopy and the result of the skin tests into the following three groups: (1) Autosomal dominant ichthyosis (ADI) with atopy (n = 13), (2) ADI without atopy (n = 17) and (3) X-linked ichthyosis (n = 5). Serum IgE levels were determined in patients and in a normal control group (n = 93) with the Phadebas-IgE-PRIST. The frequency of the association of ADI with atopy was with 44% in accordance with the literature reports. The geometrical means of the IgE values in the ADI-group with atopy were statistically significantly higher than in the ADI group without atopy (p less than 0.05) or in the control group (p less than 0,01). The increase of the IgE-levels in ichthyosis is due to the associated atopy.

Female↗
PubMed1998

Acquired ichthyosis, alopecia and loss of hair pigment associated with leiomyosarcoma.

Acquired ichthyosis is an important clinical finding; internal malignancy, systemic disease and medication are recognised associations. We present a 70-year-old lady with acquired ichthyosis and leiomyosarcoma, one of the less frequently associated malignancies. An additional unusual finding was generalised thinning and loss of pigment affecting her hair. Scalp biopsy showed histological evidence of ichthyosis. Following resection of the tumour the ichthyosis resolved and there was regrowth of darker hair.

Aged↗
PubMed2006

Dysplastic Ichthyosis uteri-like changes of the entire endometrium associated with a squamous cell carcinoma of the uterine cervix.

Ichthyosis uteri is an exceedingly rare condition in which the entire surface of the endometrium is replaced by stratified squamous epithelium. Originally described as an endometrial response to iatrogenically-introduced caustic substances, similar changes have since been described in association with a variety of inflammatory conditions of the endometrium. We describe herein a heretofore undescribed example of a moderately differentiated squamous cell carcinoma of the uterine cervix associated with extensive ichthyosis uteri-like changes of the entire adjacent endometrium. Additionally, the squamous epithelium of the latter also showed multifocal changes diagnostic of a low-grade squamous intraepithelial lesion. The potential genesis of this composite of findings is discussed, as is the neoplastic potential of ichthyosis uteri. It is concluded that a squamous cell carcinoma of the cervix extended proximally into the endometrium, and that there was a colonization of a pre-existing ichthyosis uteri by associated human papillomavirus. The possibility of significant cervical pathology should be considered when plaques of squamous epithelium with low grade dysplastic changes are identified in an endometrial biopsy or curettage.

Journal Article↗
PubMed1991

[Sweat-gland function in patients with X-linked ichthyosis].

Literature reports that patients affected by X-linked ichthyosis (XLI) have a reduction of sweat glands and a decrease of sweat production. The sweat physiology of 28 patients, 14 with XLI, 7 with lamellar ichthyosis, 7 with dominant ichthyosis and 28 control subjects were examined with sweat test, performed by pilocarpine iontophoresis. In the same patients we have performed skin biopsy to evaluate quantitative and qualitative reduction of sweat glands.

Adolescent↗
PubMed1981

Hyperlinear palms: association with ichthyosis and atopic dermatitis.

The skin and palmar markings were examined in 178 patients with atopic dermatitis, 66 (37%) of whom had ichthyosis vulgaris. Increased palmar markings were found in 49 (28%) patients, while a normal pattern of palmar markings was present in 129 (72%) patients. Increased palmar markings were commonly observed in patients with atopic dermatitis and ichthyosis, while normal palms were found in almost all patients with atopic dermatitis alone. It is suggested that the increased palmar markings often seen in patients with atopic dermatitis are actually a manifestation of concomitant ichthyosis vulgaris.

Adolescent↗
PubMed1990

Ichthyosis, mental retardation, and asymptomatic spasticity. A new neurocutaneous syndrome with normal fatty alcohol:NAD+ oxidoreductase activity.

A number of inherited disorders of cornification have been related to abnormal lipid metabolism. In the recessively inherited Sjögren-Larsson syndrome, defined by the triad of ichthyosis, mental retardation, and spasticity, fatty alcohol:NAD+ oxidoreductase deficiency has recently been reported. These patients accumulate fatty alcohol in the plasma and cultured fibroblasts. A 19-year-old woman with ichthyosis, mental retardation, and mild spasticity is described in whom fatty alcohol metabolism was normal, as determined by plasma octadecanol level and fibroblast fatty alcohol:NAD+ oxidoreductase activity. Ultrastructural studies on skin from the patient revealed morphologically abnormal epidermal lamellar bodies, not unlike those seen in neutral lipid storage disease with ichthyosis. We postulate that this patient has a novel neurocutaneous syndrome that may be secondary to abnormal lipid metabolism.

Adolescent↗
PubMed2000

Haplotype association and mutation analysis of the transglutaminase 1 gene for prenatal exclusion of lamellar ichthyosis.

Lamellar ichthyosis (LI) is an autosomal recessive keratinization disorder of the skin. Genetic heterogeneity has been shown for the disease and there is evidence for the involvement of the transglutaminase 1 (TGM1) gene on chromosome 14q11. We have previously identified chromosome 14q11 haplotypes associated with ichthyosis in the Norwegian population. In this paper we describe antenatal exclusion of ichthyosis in two Norwegian families by chromosome 14q11 haplotype association and direct mutation analysis. In one pregnancy, the 11-week old fetus at risk for LI was found to share only one disease-associated haplotype. A subsequent mutation analysis of the TGM1 gene in fetal DNA revealed that the fetus carried a novel 3795A-->T transversion. The affected proband was compound heterozygous for the mutations 3795A-->T and 3239G-->C resulting in an Asp430Val and a Val379Leu, respectively. In another LI family, the 11-week old fetus was found to be heterozygous for the 14q11 haplotype associated with the disease. Subsequent mutation analysis revealed that the fetus was heterozygous for the 2526A-->G transition in the splice site of intron 5 whereas the proband was homozygous for the same mutation. Our results show that haplotyping can be a useful tool for prenatal diagnosis in diseases with genetic heterogeneity.

Chromosomes, Human, Pair 14↗
PubMed1992

Child with manifestations of dermotrichic syndrome and ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome.

We report on a boy with short stature, mental retardation, seizures, follicular ichthyosis, generalized alopecia, hypohydrosis, enamel dysplasia, photophobia, congenital aganglionic megacolon, inguinal hernia, vertebral, renal and other anomalies, and a normal chromosome constitution. The clinical findings include all the features that dermotrichic and ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome have in common and in addition those that characterize IFAP syndrome (photophobia, recurrent respiratory infections, etc.), those that are present only in dermotrichic syndrome (nail anomalies, hypohydrosis, megacolon, vertebral defects, etc.) and additional ones (enamel dysplasia, renal anomalies, inguinal hernia, etc.). Two maternal uncles were referred as being affected by alopecia and ichthyosis suggesting X-linked recessive transmission. Various hypotheses concerning the relationship between the 2 syndromes and the present case are discussed.

Alopecia↗
PubMed1995

X-linked ichthyosis without STS deficiency: clinical, genetical, and molecular studies.

We report on a Sardinian pedigree with congenital ichthyosis associated with normal levels of steroid sulfatase and a normal molecular pattern, as detectable with a cDNA probe for the steroid sulfatase (STS) gene. Though the pattern of transmission of the disease is consistent with X-linked recessive inheritance, this form of ichthyosis was found to segregate independently of genetic polymorphisms detected by probes of the region Xp22.3, where the STS locus has been mapped. The search for close genetic linkages with other polymorphic markers scattered along the entire X chromosome has so far been fruitless. For the time being, the main conclusion derived from these data is that STS deficiency is not a sine qua non for X-linked ichthyosis which may also result from a mutational event at an X-chromosomal site genetically unlinked to the STS locus.

Arylsulfatases↗
PubMed1991

Prenatal diagnosis of harlequin ichthyosis by fetal skin biopsy; report of two cases.

Two cases of harlequin ichthyosis were successfully diagnosed prenatally by fetal skin biopsy. The aborted fetuses were later confirmed to be afflicted with this very unusual skin disease. Both families had a previous history of harlequin ichthyosis. In performing the biopsy, it was found that amniotic fluid cytology can also be very helpful in the diagnosis of this kind of severe ichthyosis. With regard to these families, the disease may have been transmitted in an autosomal dominant fashion, and not in a recessive manner as is commonly believed.

Adult↗
PubMed1986

X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome.

We report a large Italian pedigree in which five out of six males are affected by a syndrome, following an X-linked inheritance pattern, characterized by ichthyosis, hypogonadotropic hypogonadism, and anosmia. The concurrence of features of X-linked ichthyosis (XLI) with those of Kallmann syndrome, another disease often inherited as an X-linked trait, prompted us to perform biochemical, cytogenetic, and molecular studies in relation to the short arm of the X chromosome (Xp). Steroid sulphatase (STS) activity was found to be completely deficient in all affected members of the family. Prometaphase chromosome analyses of two obligate heterozygous women and one affected male showed normal karyotypes. Xg blood group antigen analysis and molecular studies employing cloned DNA sequences from the distal segment of the Xp (probes RC8, 782, dic56, and M1A), did not provide evidence for deletions or rearrangements of the X chromosome. The linkage analysis showed no crossovers between the disease, Xg, and DXS143, the locus defined by probe dic56, thus suggesting the possibility of a linkage between these two markers of the distal segment of Xp and the X-linked ichthyosis, hypogonadism, and anosmia syndrome.

Adolescent↗
PubMed1992

Clinical, light and electron microscopic features of recessive ichthyosis congenita type III.

The recessively inherited congenital ichthyoses have ultrastructural features which indicate abnormal epidermal lipid metabolism. The ultrastructural markers of the three recessive congenital ichthyosis groups are lipid droplets in horny layers (type I), cholesterol clefts (type II) and membrane structures (type III). We describe six patients from five families belonging to the last group. The variable clinical phenotype alone does not allow the delineation of this disease, but together with the ultrastructural characteristics the subtype is unequivocal. In addition to the membrane structures, half of the cases showed abnormal keratinosomes and vesicular complexes. Membrane-bound vacuoles and needle-like slits were exceptionally found. The onset of the ichthyosis was variable, in contrast to other patients described under the heading recessive congenital ichthyosis.

Adult↗