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PubMed1996

Ichthyosis-characteristic appearance-mental retardation syndrome with distinct histological skin abnormalities.

In this report, we describe a 2.5-year-old severely mentally retarded boy with peculiar appearance and generalized ichthyosis, born to consanguineous Turkish parents. The histological finding in the skin biopsy of unusually large oval keratohyalin granules in the granular cells is unique, and hitherto has not been reported in other ichthyosis-mental retardation syndromes.

Abnormalities, Multiple↗
PubMed1988

Ichthyosis and neutral lipid storage disease.

A boy with a lipid storage disease characterized by lamellar ichthyosis, cataracts, hepatosplenomegaly, and leukocyte vacuoles has been identified in a Sicilian family. This patient shows all the characteristics of ichthyosis and neutral lipid storage disease (Chanarin-Dorfman syndrome). Family data confirm an autosomal recessive inheritance; the heterozygotes may be detected by the presence of vacuoles in circulating eosinophils.

Genes, Recessive↗
PubMed1991

Keratitis, hepatitis, ichthyosis, and deafness: report and review of KID syndrome.

A 14-year-old girl with ichthyosis and severe liver disease is compared to 35 reported cases of KID or Senter syndrome. Common manifestations such as ichthyosis (35/35 patients), sensorineural deafness (33/34), "ectodermal dysplasia" (25/28), corneal abnormality (26/31) were present in the proposita, while less common manifestations such as chronic infections (15/20) and neuromuscular disease (12/35) were absent. Two families with vertical transmission and 28 sporadic cases are compatible with an autosomal dominant form of KID syndrome, while one inbred sibship with liver disease suggests the existence of an autosomal recessive form. The proposita was similar to the latter patients in having progressive cirrhosis necessitating liver transplantation; she also had short stature (10/35 patients) and mental retardation (3/35). Hepatic findings included micronodular cirrhosis, cholestasis, hyperplastic Kupffer cells, abundant Mallory's hyaline, copper accumulation without steatosis, and normal peroxisomes.

Adolescent↗
PubMed2004

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: report of a new family with additional features and review.

Two brothers with ichthyosis follicularis, noncicatricial universal alopecia, photophobia, hyerkeratotic psoriasis-like lesions, nails dystrophy, inguineal herniae, cryptorchidism, short stature, seizures, and psychomotor developmental delay are described. These features correspond to the ichthyosis follicularis, alopecia, photophobia (IFAP) syndrome. The youngest brother had in addition a bilateral absence of 4th fingers and camptodactyly, features never reported in patients with IFAP syndromes.

Abnormalities, Multiple↗
PubMed1986

A new syndrome of anosmia, ichthyosis, hypogonadism, and various neurological manifestations with deficiency of steroid sulfatase and arylsulfatase C.

We describe a family consisting of 3 affected men with congenital ichthyosis, anosmia, hypogonadism, nystagmus with decreased visual acuity, strabismus, hypopigmentation of the iris, and mirror movements of the hands and feet. Two of them had limitation of ocular movement and unilateral renal agenesis or hypoplasia. The condition appears to be inherited as an X-linked recessive trait. Clinical, pathological, and biochemical evaluations were compatible with a diagnosis of X-linked ichthyosis. Steroid sulfatase and arylsulfatase C activities in leukocytes and fibroblasts were markedly diminished in the affected patients. Their hypogonadism was due to decreased luteinizing hormone-releasing hormone secretion (hypogonadotropic). Hyposecretion of antidiuretic hormone was also recognized. Chromosome analysis of leukocytes and skin fibroblasts revealed a normal 46,XY male karyotype in all of the patients.

Adolescent↗
PubMed1983

Congenital ichthyosis and endodermal sinus tumor of the ovary in a ten-year-old child.

Acquired ichthyosis is very likely to be associated with a malignancy, especially with Hodgkins disease. The association of congenital ichthyosis with malignant tumors has been so far reported only in two instances. Herein we report on a third case. Due to the small number of cases, no conclusion can be drawn about the correlations between the two diseases.

Child↗
PubMed1993

Correction of steroid sulfatase deficiency by gene transfer into basal cells of tissue-cultured epidermis from patients with recessive X-linked ichthyosis.

To develop an experimental model for somatic gene therapy we have tried to correct the steroid sulfatase (STS) deficiency in tissue-cultured primary epidermal keratinocytes from patients suffering from recessive X-linked ichthyosis. An efficient Epstein-Barr virus-based vector was constructed, in which full-length steroid sulfatase cDNA is located between an SV40 early promotor and processing signals. After STS gene transfer into cultured basal cells from ichthyotic skin, the cells produce large amounts of enzymatically active steroid sulfatase protein. The subpopulation of transfected cells can be made to produce approximately 100 times more STS activity than normal keratinocytes. Keratinocytes from patients suffering from recessive X-linked ichthyosis display an abnormal phenotype when developing a multilayered tissue in culture: Initially an extensive burst of keratinization is observed, followed by rapid, premature shedding and degradation of most suprabasal cell layers, leaving a culture with hyperproliferative relatively immature keratinocytes. Transfection of these immature ichthyotic cells with the functional STS construct led to an increase in the amount of retained cell material in the culture medium, indicating an increased cell maturation. It is possible to genetically label individual transfected epidermal cells with a reporter gene. Cotransfection experiments with STS and reporter gene vectors show that the cohort of transfected cells had a tendency to develop less rapidly since they became overrepresented in the smaller size classes at the same time the total population was somewhat shifted toward higher cell sizes. We interpret these results as an indication that restoration of the enzymatic activity induces a more normal maturation of the transfected keratinocytes.

Arylsulfatases↗
PubMed1990

Altered keratin expression in ichthyosis hystrix Curth-Macklin. A light and electron microscopic study.

The pathogenesis of a rare form of the ichthyotic diseases, ichthyosis hystrix Curth-Macklin, was investigated by immunohistochemistry and electron microscopy. Monoclonal antibodies (Mabs) against keratins expressed in normal basal cells (PKK2 and KA1), Mabs against keratins only present in normal fetal skin (PKK1), and Mabs against keratins 1, 2, 10, and 11 (KA5 and K8.60) were used. The Mabs reacting with normal basel cells showed an increased reaction with many cell layers. The Mab PKK1 distinctly reacted with the basal cell layer, suggesting an expression of fetal keratins. Electron microscopic study of both normal-looking and involved skin revealed the keratinization disorder characterized by tonofilament shells, perinuclear vacuoles, and binuclear keratinocytes. The results suggest that there is no prematurity of keratinization, but rather a pathological expression of specific keratin genes leading to expression of fetal keratins in this form of ichthyosis hystrix.

Adult↗
PubMed1979

Ichthyosis nigricans: ultrastructural study of the melanin pigmentary disturbances.

Hyperpigmented skin from a 10-year-old white boy with ichthyosis nigricans has been studied. Histological and ultrastructural studies reveal that the hyperpigmentation is related to both epidermal and dermal hypermelanosis. Melanocytes are hyperactive. The different stages of melanosome synthesis and melanisation appear to be normal. Increased dermal pigmentation probably results from a dischargement of the melanin granules into the dermis secondary to melanocyte alterations. Ichthyosis nigricans is a typical example of melanin pigmentary disturbances of the skin, resulting from disturbances in the normal interactions between melanocytes and keratinocytes.

Child↗
PubMed1985

Absence of testicular steroid sulphatase activity in a boy with recessive X-linked ichthyosis and testicular maldescent.

We present a 14-year-old boy with recessive X-linked ichthyosis in whom only one testis could be found. In this apparently normal testis, a lack of activity of the enzyme steroid sulphatase was demonstrated. Several male patients with recessive X-linked ichthyosis have been reported to have testicular diseases, and it is suggested that this may be related to the absence of testicular steroid sulphatase activity.

Adolescent↗
PubMed1990

Ichthyosis bullosa of Siemens: further delineation of the phenotype.

We report a third family affected with ichthyosis bullosa of Siemens, and we further delineate the clinical spectrum of this mild type of epidermolytic hyperkeratosis. Erythroderma had never been present in any of the affected individuals. All of them exhibited a brownish, rimpled hyperkeratosis, the main characteristic sites being the joints, the shins and the periumbilical region. Blistering occurred after slight mechanical trauma and even after sweating, resulting in superficially denuded areas. Two affected family members also suffered from chronic, relapsing pustular eruptions surrounded by a transient erythematous flare. Light- and electron-microscopic examination revealed epidermolytic hyperkeratosis limited to the upper part of the epidermis. The pustular lesions were found to be subcorneal blisters filled with neutrophils. Ichthyosis bullosa of Siemens can be clearly distinguished from bullous ichthyosiform erythroderma. The observation of subcorneal pustular dermatosis occurring in this phenotype provides further evidence for the genetic heterogeneity of epidermolytic hyperkeratosis.

Acitretin↗
PubMed1983

Clinical spectrum of steroid sulfatase deficiency: X-linked recessive ichthyosis, birth complications and cryptorchidism.

When boys affected with steroid sulfatase deficiency are delivered, the lack of the enzyme in the placenta may cause birth complications. In postnatal life this gene defect gives rise to X-linked recessive ichthyosis. In a series of 25 patients birth complications were reported in 9 cases. Of these boys, 4 displayed bilateral inguinal cryptorchidism and one was affected unilaterally. In a further boy we observed unilateral inguinal cryptorchidism without a history of birth complications. In one patient who had been delivered by forceps, abdominal bilateral cryptorchidism resulted in severe hypogenitalism. A review of the literature revealed 30 cases with X-linked recessive ichthyosis displaying hypogenitalism or cryptorchidism or both. In conclusion, cryptorchidism should be considered as a further clinical manifestation of steroid sulfatase deficiency.

Adolescent↗
PubMed1993

Biochemical and immunological characterization of X-linked ichthyosis.

An immunoquantification protocol based on an enzyme-linked immunosorbent assay was developed to measure the abundance of the microsomal enzyme steroid sulphatase (STS). The two-step sandwich immunoassay is sufficiently sensitive to detect 100-200 pg purified steroid sulphatase in a 50-microliters sample. The steroid sulphatase content in fibroblast, leukocyte and placental extracts correlates with the steroid sulphatase activity in these extracts. No steroid sulphatase protein was found in approximately 350 micrograms plasma proteins from a normal person. In three of four X-linked ichthyosis patients a complete gene deletion was found by Southern hybridization with the full-length STS cDNA as probe. Neither steroid sulphatase protein nor enzymatic activity was found in fibroblast extracts of these three patients. In a fibroblast extract of another X-linked ichthyosis patient, which had a normal Southern blotting pattern, no immunoreactive protein was detected. Residual activity of steroid sulphatase was also not found after prolonged incubation of this fibroblast extract with the natural substrate oestrone sulphate.

Arylsulfatases↗
PubMed1982

Review: genetics of steroid sulphatase deficiency and X-linked ichthyosis.

Steroid sulphatase deficiency which started out as a curious placental microsomal enzyme deficiency associated with low maternal urinary oestrogen excretion and difficulties in delivery, first described only twelve years ago, has now become a generalized enzyme deficiency associated also with a common skin disease. It turns out not only to be inherited in an X-linked recessive manner, but to be part of a gene cluster which includes the Xg blood group gene and which has been precisely assigned to the distal tip of the short arm of the X-chromosome. This cluster is unique for genes on the X-chromosome in escaping X-inactivation. It remains to be unequivocally demonstrated whether steroid sulphatase is identical to arylsulphatase C or whether these are two enzymes sharing a common polypeptide chain determined by a single gene. However, Rose (1982) presents evidence that one steroid sulphatase is probably identical with arylsulphatase C. It also remains to be conclusively demonstrated whether the gene for the enzyme deficiency is also that for ichthyosis or whether they are two very closely linked genes. If the former is true the role of steroid sulphatase in the abnormal keratinization of ichthyosis is still to be elucidated. Above all the special nature of the DNA in this unique region awaits description.

Cholesterol Esters↗
PubMed1991

Increased levels of DHEAS in serum of patients with X-linked ichthyosis.

The metabolic basis of X-linked ichthyosis is a deficiency of steroid sulphatase, a microsomal enzyme which removes sulphate groups from sulphated steroids. We report on a carefully controlled group of 15 patients with recessive X-linked ichthyosis, selected in a narrow age range (22-33 years), in whom, through the use of gas chromatographic analysis and conventional radioimmunoassay, we have measured not only elevated serum cholesterol sulphate levels but also significantly elevated serum dehydroepiandrosterone sulphate levels. The latter finding has been controversial in previous reports. We believe that the radioimmunoassay procedure generally used should be held responsible for such controversy since it often gives rise to false positive and/or false negative values. Gas chromatography, although more exacting, appears to be far more reliable for the assessment of elevated serum dehydroepiandrosterone.

Acetylation↗
PubMed1988

Recurrent bilateral corneal erosions due to an association of epidermolysis bullosa simplex Köbner and X-linked ichthyosis with steroid sulfatase deficiency.

Since early infancy a male patient now 24 years of age had suffered from painful, recurrent, bilateral corneal erosions and blister formation after minimal skin trauma. Corneal erosions are quite unusual in non-scarring types of epidermolysis bullosa. The dermatological examination disclosed that the patient had clinical hallmarks of two rare genetic skin disorders, epidermolysis bullosa simplex (Köbner) and X-linked ichthyosis. Both disorders could be traced back in the patient's maternal family to the mother's father and his brother, who were both said to have had similar eye complaints. Using biochemical means and electron microscopy of skin biopsy specimens, both diagnoses could be proven in the patient and his mother. We discuss the importance of lid hyperkeratoses in hemizygous males as a causative factor for the recurrence of bilateral corneal erosions due to the unique combination of epidermolysis bullosa simplex (Köbner) and X-linked ichthyosis with steroid sulfatase deficiency.

Adult↗
PubMed1986

Ichthyosis accompanied by neurological symptoms with special reference to epilepsy.

5 patients with ichthyosis had a neurological accompaniment: epilepsy in 4, congenital palpebral ptosis, facial pain and neurosis in 1. In one patient epilepsy was combined with multiple malformations (normal dwarfism, prematurely old face, skeletal abnormalities) and oligophrenia. There was considerable variability genetically: 2 sporadic cases, 1 with X-linked transmission, 1 with autosomal dominant and 1 with apparent autosomal recessive heredity. In one case the co-existence of glucose-6-phosphate dehydrogenase deficiency provided proof of X-linked transmission. Further study of larger case-series is needed for a better definition of the nosographic and genetic aspects of non blastomatous neuroectodermatoses in which ichthyosis figures.

Adolescent↗
PubMed1996

[Life threatening salicylate poisoning caused by percutaneous absorption in severe ichthyosis vulgaris].

In a 7-year-old boy, ichthyosis vulgaris was treated with a 10% ointment for application over a large area of the body surface. In this way, the child received 400 g salicylic acid (0.6 g/kg body weight per day) percutaneously over a period of 4 weeks. The patient was referred to hospital by the family doctor: he was in a deep somnolent state, apparently caused by hyperventilation following wheezing, vomiting, tinnitus and vertigo. Salicylate intoxication was suspected because of metabolic acidosis, an anion gap and respiratory overcompensation. The diagnosis was confirmed by a serum salicylate level of 985 micrograms/ml (therapeutic level 150-300 micrograms/ml). Following forced diuresis and alkalization with sodium bicarbonate, haemodialysis was unnecessary. As the salicylate level declined to values within the therapeutic range, the patient started to recover consciousness, waking on the 4th day. By day 6 there were still obvious neurological deficiencies. Fecal incontinence, bilateral ptosis and intermittent diverging strabismus on the right persisted for some weeks. It was 6 months before complete neurological resolution was achieved. The pathogenesis of salicylate toxicity and the need for safer therapies for ichthyosis vulgaris are discussed.

Acid-Base Equilibrium↗