Absence of vacuolization of upper epidermal cells in nonbullous congenital ichthyosiform erythroderma.
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Epidermis↗
Biomedical subjects
M L Williams
Publications and source records attributed to M L Williams.
Acquired cutis laxa: case report and review of disorders of elastolysis.
A 10-year-old boy developed cutis laxa while receiving isoniazid therapy; no systemic manifestations occurred. There are several well-documented cases of acquired cutis laxa. We propose a classification of the elastolysis syndromes, including inherited, neonatal, and acquired forms of cutis laxa.
Adult↗
Histologic changes resembling the verrucous phase of incontinentia pigmenti within epidermal nevi: report of two cases.
A wide spectrum of histopathologic changes has been reported to occur within epidermal nevi. We saw two patients with warty nevoid lesions in which histopathologic features of incontinentia pigmenti, verrucous phase, were present. The diagnosis of incontinentia pigmenti was excluded because both patients were male, lacked a preceding vesicular stage, and did not demonstrate other features of the disorder.
Child, Preschool↗
Studies on the cell surface of zoospores and cysts of the fungus Phytophthora cinnamomi: nature of the surface saccharides as determined by quantitative lectin binding studies.
The nature of the surface saccharides of zoospores, "partially encysted zoospores" and cysts of the root-rotting fungus Phytophthora cinnamomi, has been examined by quantitative lectin binding studies. Zoospores bound concanavalin A (Con A), but did not bind any of a variety of other lectins tested. In contrast, both cysts and "partially encysted zoospores" bound soybean agglutinin (SBA) as well as Con A. This indicates that accessible alpha-D-glucosyl/alpha-D-mannosyl-containing glycoconjugates predominate at the zoospore surface, whereas both alpha-D-glucosyl/alpha-D-mannosyl and galactosyl and/or N-acetyl-D-galactosaminosyl residues are accessible at the surface of cysts and "partially encysted zoospores." Neither Ulex europeus lectin nor wheat germ agglutinin (WGA) bound to any of the three cell preparations, indicating the absence of accessible alpha-L-fucosyl and N-acetyl-D-glucosaminosyl residues.
Binding Sites↗
Efficacy of oral clorsulon in the treatment of Fasciola hepatica infections in calves.
Twenty calves at each of 2 Arkansas locations were inoculated with infective Fasciola hepatica metacercariae. After 56 days, the calves at each site were randomly assigned by weight to 2 treatment groups of 10 calves/group; vehicle control or clorsulon at the rate of 7 mg/kg of body weight. All treatments were given orally as a suspension. Calves were killed 6 weeks after treatment and F hepatica counts were performed for all animals. At the 2 sites, mean levels of efficacy were 96% and 91%. Adverse reactions to clorsulon or the vehicle were not observed in the calves.
Animals↗
Comparative efficacy of clorsulon and albendazole against Fasciola hepatica in cattle.
In a dosage-confirmation trial, anthelmintic activities of clorsulon and albendazole against Fasciola hepatica were evaluated and compared. Twenty-eight cattle (8 to 12 months old) with natural F hepatica infections were randomly allotted to 4 groups of 7 cattle each: group 1, no treatment (controls); group 2, clorsulon suspension given orally at 3.5 mg/kg of body weight; group 3, clorsulon suspension given orally at 7 mg/kg; and group 4, albendazole paste given orally at 10 mg/kg. At necropsies, performed 7 and 8 days after treatment, control cattle harbored a geometric mean of 133.2 F hepatica, 16.0 of which were immature. Clorsulon administered at 3.5 mg/kg or 7 mg/kg resulted in greater than 99% removal of F hepatica, including immatures. Albendazole treatment resulted in a 76% overall reduction in F hepatica, including a 91% reduction of immatures. Fascioloides magna also were found in the cattle, but neither clorsulon nor albendazole caused significant reductions of the parasite. Adverse reactions to the 2 drugs were not observed.
Albendazole↗
Neutral lipid storage disease with ichthyosis. Defective lamellar body contents and intracellular dispersion.
Although the link between epidermal lamellar body lipids and stratum corneum barrier function is well established, a role for lamellar body lipids in desquamation remains unproved. We examined skin biopsy material from three family members of a Palestinian kindred with a multisystem disorder of altered lipid metabolism, ichthyosis, and deposition of fat droplets in multiple tissues (Chanarin-Dorfman syndrome, neutral lipid storage disease). Thin-section and freeze-fracture ultrastructural studies revealed a distinctive lamellar body abnormality: multilaminated spherules that distorted and displaced the normal internal disk structure of these organelles. Whereas these spherules remained interspersed with secreted lamellar body contents within the intercellular spaces of the outer epidermis, at the stratum granulosum-stratum corneum interface they apparently dispersed into electron-lucent "slits." These studies therefore provide strong support for the concept that lamellar body-derived lipids influence stratum corneum desquamation and further suggest that abnormalities of neutral lipid-alkane metabolism influence normal epidermal shedding.
Adolescent↗
Prenatal care and the low birth weight infant.
In this study the authors assessed human and economic consequences of low birth weight linked to the lack of prenatal care for indigent women. Low birth weight infants were defined as those who weighed between 860 and 2220 g, corresponding to the 50th percentiles at 26 and 34 weeks' gestation. Women seeking prenatal care had a significantly decreased incidence of low birth weight infants compared with those without such care. Concomitantly, low birth weight infants born to women with prenatal care had significantly better perinatal survival as well as less frequent respiratory distress and intraventricular hemorrhage. Because of these factors, infants born to clinic mothers used fewer neonatal intensive care days and had shorter hospitalizations. Hospital costs were reviewed for 175 surviving infants and failure to obtain prenatal care was associated with a 50% increase in costs for each infant. The frequencies of the most common pregnancy complications in women with and without prenatal care, coupled with corresponding obstetric interventions, suggest that such care facilitates identification and management of women at risk for delivery of low birth weight infants. The authors conclude that there are important human and economic advantages of antenatal care for indigent women.
Adolescent↗
Elimination of oral food challenge reaction by injection of food extracts. A double-blind evaluation.
Twenty subjects underwent a double-blind evaluation by analyzing six variables to determine if subcutaneous injection of the food extract neutralizing dose would protect subjects from reactions. Twelve subjects had four of the six variables neutralized 60% of the time following the food antigen neutralizing dose. The placebo trials neutralized four of six variables 15% of the time. The sign/symptom results show statistical significance favoring food extract neutralization over placebo. The remaining eight subjects had at least two of the six variables neutralized by the food extract up to 85% of the time. It appears that the phenomenon of subcutaneous food neutralization can be scientifically endorsed for clinical use in the treatment of food reactions.
Administration, Oral↗
Cholesterol sulphate in the microsomal sulphatase deficient placenta.
Placental sulphatase deficiency (PSD) and recessive X-linked ichthyosis (RXLI) are known as a nosological entity, due to deficiency of the enzyme, steroid sulphatase. Prior studies have demonstrated high urinary excretion and some accumulation of sulphated steroids prenatally, and of accumulation of cholesterol sulphate postnatally. This study was undertaken to investigate the level of cholesterol sulphate in the sulphatase deficient placenta. Whereas cholesterol sulphate levels are elevated in blood, erythrocyte membrane and stratum corneum of patients with RXLI, cholesterol sulphate content of four investigated sulphatase deficient placentas was normal in comparison to six normal male controls and four male controls with low oestrogen excretion in the third trimester of pregnancy but with normal placental sulphatase activity. The explanation for normal cholesterol sulphate content of sulphatase deficient placentas is unknown but may be due to placental transport, rapid metabolism to other sulphated steroids or age-related differences in residual enzyme activities.
Cholesterol Esters↗
Myxedema coma during long-term amiodarone therapy.
Amiodarone is a potent new antiarrhythmic drug that has multiple effects on thyroid function, including inhibition of extrathyroidal triiodothyronine production and rarely, iodine-induced hypothyroidism. This report describes a man with recurrent ventricular tachycardia in whom hypothyroidism developed during amiodarone therapy and who died of probable myxedema coma. Parenteral and oral thyroxine therapy promptly reduced serum thyroid-stimulating hormone concentrations without increasing the patient's very low serum triiodothyronine concentration. This response to thyroxine suggests that thyroxine itself may have biologic activity and participate directly in regulation of thyrotropin secretion. Because amiodarone-induced hypothyroidism may be life-threatening, thyroid function should be monitored before and during amiodarone therapy, and the drug discontinued or appropriate therapy instituted if hypothyroidism develops.
Aged↗
The epidermal cholesterol sulfate cycle.
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Cholesterol Esters↗
The dynamics of desquamation. Lessons to be learned from the ichthyoses.
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Animals↗
Sinusoidal fetal heart rate pattern after intrauterine transfusion.
Two pregnancies complicated by severe Rh-isoimmunization and the development of sinusoidal fetal heart rate patterns immediately after intrauterine transfusions are presented. An intermittent sinusoidal pattern resolved, in one fetus, with sonographic evidence of delayed but complete absorption of transfused red blood cells. In contrast, the second fetus exhibited a continuous sinusoidal pattern coincident with cardiac decompensation detected by echocardiography, severe anemia, and failure to absorb transfused red blood cells. Possible pathophysiologic mechanisms for the development of sinusoidal patterns after fetal transfusions are discussed. It is concluded that a sinusoidal fetal heart rate pattern may occur after fetal transfusion and that the subsequent course of this pattern provides meaningful information about fetal condition as well as the success of intrauterine transfusion.
Adolescent↗
Lipids in the pathogenesis of ichthyosis: topical cholesterol sulfate-induced scaling in hairless mice.
Although several abnormalities of lipid metabolism have been associated with abnormal cornification in humans, evidence that these lipids directly provoke abnormal scale is lacking. One recently described example of a lipid abnormality in ichthyosis is absence of the enzyme steroid sulfatase in recessive X-linked ichthyosis (RXLI). This enzyme normally desulfates cholesterol sulfate (CS) and sulfated steroid hormones, including dehydroepiandrosterone sulfate (DHEAS). As a result of this enzyme deficiency, patients with RXLI accumulate CS in their blood and skin. To determine whether sulfated sterols are the specific cause of increased scale, we applied CS, DHEAS, cholesterol, or vehicle alone to the backs of hairless mice. In animals treated with CS, but not with DHEAS or with vehicle, visible scale without erythema appeared after 1 week, peaked at 2 weeks, and then diminished. When the dose of CS was doubled, abnormal scale reappeared and then decreased again. CS-induced scale was reversible, clearing within 3 days of discontinuation of treatment. Because there was no acanthosis, dermal inflammation, abnormal transepidermal water loss, or increased labeling index, it appears that the 3-fold increase in thickness of the stratum corneum in CS-treated animals is due to a direct effect on this layer.
Animals↗
Giant congenital melanocytic nevus: quantification of nevus debulking after split-thickness excision.
Although giant congenital melanocytic nevi (CMN) may undergo malignant transformation, their complete surgical removal is commonly difficult to achieve and may require sacrifice of normal skin. We treated a patient with CMN by a combination of full-thickness excision and primary closure of the central atypical portion and split-thickness excision of the remainder. Histometric analysis of the tissues obtained at surgery indicated that the split-thickness procedure removed approximately 70% of the cellular nevus content from that area. Total debulking by the combined procedure was calculated to be approximately 80%. If the risk of malignant degeneration is proportional to the number of melanocytes present, the debulking procedure described may provide a useful alternative for the management of some giant CMN. The cosmetic result is satisfactory and the significant lightening in color and removal of nodular irregularities may facilitate prospective follow-up of the residual lesion.
Cell Count↗
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↗
Stratum corneum lipids in disorders of cornification. Steroid sulfatase and cholesterol sulfate in normal desquamation and the pathogenesis of recessive X-linked ichthyosis.
The pathological scaling in recessive x-linked ichthyosis is associated with accumulation of abnormal quantities of cholesterol sulfate in stratum corneum (J. Clin. Invest. 68:1404-1410, 1981). To determine whether or not cholesterol sulfate accumulates in recessive x-linked ichthyosis as a direct result of the missing enzyme, steroid sulfatase, we quantitated both steroid sulfatase and its substrate, we quantitated both steroid sulfatase and its substrate, cholesterol sulfate, in different epidermal strata, as well as within stratum corneum subcellular fractions obtained from normal human and neonatal mouse epidermis and from patients with recessive x-linked ichthyosis. In normal human and mouse epidermis, steroid sulfatase activity peaked in the stratum granulosum and stratum corneum, and negligible activity was detectable in lower epidermal layers. In contrast, in recessive x-linked ichthyosis epidermis, enzyme levels were virtually undetectable at all levels. In normal human stratum corneum, up to 10 times more steroid sulfatase activity was present in purified peripheral membrane preparations than in the whole tissue. Whereas in normal human epidermis cholesterol sulfate levels were lowest in the basal/spinous layer, and highest in the stratum granulosum, in recessive x-linked ichthyosis the levels were only slightly higher in the lower epidermis, but continued to climb in the stratum corneum. In both normal and in recessive x-linked ichthyosis stratum corneum, cholesterol sulfate appeared primarily within membrane domains, paralleling the pattern of steroid sulfatase localization. Finally, the role of excess cholesterol sulfate in the pathogenesis of recessive x-linked ichthyosis was directly tested by topical applications of this substance, which produced visible scaling in hairless mice in parallel to an increased cholesterol sulfate content of the stratum corneum. These results demonstrate an intimate relationship between steroid sulfatase and cholesterol sulfate in normal epidermis: both are concentrated in the outer epidermis (stratum corneum and stratum granulosum), and both are localized to membrane domains. Presumably, as a result of this distribution pattern, continued enzymatic degradation of substrate occurs in normal epidermis, thereby preventing excessive accumulation of cholesterol sulfate. In contrast, in recessive x-linked ichthyosis, degradation of cholesterol sulfate does not occur and cholesterol sulfate accumulates specifically in the stratum corneum, where it produces visible scale.
Administration, Topical↗