[Tubercular ulcers in a kickboxer].
Explore the source record for details and available documents.
Adult↗
Biomedical subjects
A P Lavrijsen
Publications and source records attributed to A P Lavrijsen.
[Bullous congenital ichthyosiform erythroderma of Brocq; 2 patients with different phenotype and genotype].
Explore the source record for details and available documents.
Adolescent↗
Eccrine syringofibroadenoma: the simultaneous occurrence of two histopathological variants (conventional and clear-cell type) in one patient.
Explore the source record for details and available documents.
Adenoma, Sweat Gland↗
An atypical form of bullous congenital ichthyosiform erythroderma is caused by a mutation in the L12 linker region of keratin 1.
Defective keratins are the cause of a number of hereditary disorders of the epidermis and other epithelia. The disease-causing mutations in keratins are clustered in the rod domain, and mutations in the helix boundary peptides cause the most severe forms of epidermal fragility syndromes. Siemens described a family with an atypical, mild form of bullous congenital ichthyosiform erythroderma. Linkage analysis in this family indicated that a defective type II keratin might be the underlying cause, keratins K1 and K2e being the best candidates. A substitution of valine for aspartic acid was detected at position 340 (D340V) in the L12 region of the K1 polypeptide. The mutation was found to cosegregate with the disorder in the family. Herewith, a genotype-phenotype correlation is shown for bullous congenital ichthyosiform erythroderma comparable with that described for epidermolysis bullosa simplex.
Genetic Linkage↗
Consequences of seven novel mutations on the expression and structure of keratinocyte transglutaminase.
We report the molecular characterization of seven new keratinocyte transglutaminase mutations (R315C, S358R, V379L, G473S, R687C, deletion Delta679-696, R127Stop) found in lamellar ichthyosis patients. Arg-315, Ser-358, Val-379, and Gly-473 are highly conserved residues in transglutaminases while Arg-687 and Delta679-696 are not. All mutations strongly decreased transglutaminase activity and protein levels. The mutation R127Stop diminished the amount of mRNA. Structural analysis of these mutations based on the factor XIII A-subunit crystal structure demonstrated that Arg-315, Ser-358, Val-379, and Gly-473 are located in the catalytic core domain, and Arg-687 and the deletion are in the beta-barrel domains. The side chains of amino acids Arg-315, Ser-358, and Gly-473 make ionic and hydrogen bonds important for folding and structural stability of the enzyme but are not directly involved in catalysis. Val-379 is two amino acids away from the active site cysteine, and its change into leucine disturbs the active site structure. The decreased activity and protein level after expression of the R687C and Delta679-696 TGK cDNA in TGK negative keratinocytes excluded that they are polymorphisms. These results identify important amino acids in the central core domain of transglutaminases and show that the C-terminal end influences the structural and functional integrity of TGK.
Arginine↗
Absent transglutaminase TGK expression in two of three patients with lamellar ichthyosis.
Explore the source record for details and available documents.
Adult↗
Reduced skin barrier function parallels abnormal stratum corneum lipid organization in patients with lamellar ichthyosis.
Most patients with autosomal recessive lamellar ichthyosis are known to have markedly impaired skin barrier function. We hypothesize that this may be due to imperfections in the composition and fine structure of the intercellular stratum corneum lipids. The aim of the present study was to test this hypothesis. To characterize the barrier properties in three female patients with lamellar ichthyosis, the following parameters were used and compared with those of healthy volunteers: transepidermal water loss, stratum corneum lipid profiles after topical acetone/ether extraction on the flexure side of the forearm, and small-angle x-ray diffraction. The extracted lipids were separated using high performance thin-layer chromatography and quantified, and the ceramide profile was determined. Small-angle x-ray diffraction was used to obtain information on the molecular structure and organization of the intercellular lipid domains of stratum corneum using stratum corneum scales collected by scraping. Transepidermal water loss was significantly increased in all three patients. Lipid analysis showed significant differences in the relative amounts of ceramide fractions 2-3a-3b-4-5, free fatty acid-ceramide ratio, and free fatty acid-cholesterol ratio. Small-angle x-ray diffraction showed smaller repeated distances of lipid bilayers in stratum corneum samples of the patients compared with the healthy volunteers. An additional diffraction peak was found in the patients compared with the healthy volunteers, which can be ascribed to crystalline cholesterol. These data suggest that there might be a relation between the impaired barrier function and stratum corneum lipid structural and composition changes.
Adult↗
Validation of an in vivo extraction method for human stratum corneum ceramides.
A topical acetone/diethylether (A/E) lipid extraction method was evaluated for its suitability for use in the study of stratum corneum lipids in various skin disorders. Its efficiency was compared in vitro with topical chloroform/methanol (C/M) extraction and with the classical 'integral' C/M extraction (submerged tissue) of stratum corneum or whole epidermis. To estimate the depth of lipid removal by A/E extraction, light microscopic and freeze-fracture electron microscopic studies were carried out on A/E and C/M topically treated skin samples. The in vivo experiments consisted of topical A/E extraction and of classical C/M extraction of scrapings of the stratum corneum. Transepidermal water loss (TEWL) was measured before and after topical A/E extraction and after every scraping procedure, and correlated with TEWL values found after stripping of the stratum corneum. The total amount of lipid found with both topical extraction procedures was lower than that found with the integral extraction of the stratum corneum. Light microscopy showed that topical C/M extraction induced cell damage in the living epidermal cell layers. Great interindividual variation in overall lipid composition was shown in the in vitro experiments irrespective of the extraction protocol used. However, the ceramide (CER) profiles in a single skin sample from the same subject were similar irrespective of the protocol used, and a uniformity in the CER profiles was found in skin samples from different subjects. Similar results were obtained with in vivo topical A/E extractions: marked interindividual variation was seen in overall lipid composition, but not in the CER profile.(ABSTRACT TRUNCATED AT 250 WORDS)
Adult↗
Genetic linkage of the keratin type II gene cluster with ichthyosis bullosa of Siemens and with autosomal dominant ichthyosis exfoliativa.
Ichthyosis bullosa of Siemens is an autosomal dominant disease characterized by mild hyperkeratosis and blistering. Autosomal dominant ichthyosis exfoliativa is a recently described disease with clinical features similar to ichthyosis bullosa of Siemens, but in contrast to ichthyosis bullosa of Siemens no histologic signs typical for epidermolytic hyperkeratosis are observed. We used linkage analysis to test whether keratin gene mutations might underlie both diseases. This analysis showed linkage of both disorders with the region of chromosome 12 in which the keratin type II gene cluster is located. The keratin type I gene cluster on chromosome 17 is excluded. These data, combined with clinical observations, strongly suggest that the genes coding for keratin 1 or keratin 2e, both expressed in the suprabasal compartment of the epidermis and located in the type II gene cluster, are candidate genes for ichthyosis bullosa of Siemens and ichthyosis exfoliativa.
Base Sequence↗
[Liver damage during administration of itraconazole (Trisporal)].
Three case histories are described of patients, two women aged 62 and 57 and a man aged 75 years, who developed symptomatic hepatic injury five to six weeks after starting itraconazole treatment. In two of them the biochemical pattern of liver injury was cholestatic. Other causes of hepatic injury were excluded. Monitoring serum liver enzymes is advisable in patients treated with itraconazole for one month or longer.
Aged↗
Barrier function parameters in various keratinization disorders: transepidermal water loss and vascular response to hexyl nicotinate.
In this study, we characterized the stratum corneum barrier function in 39 patients with various keratinization disorders (autosomal dominant ichthyosis vulgaris [ADI] [n = 7], X-linked recessive ichthyosis [XRI] [n = 6], autosomal recessive congenital ichthyosis [CI] [n = 10], dyskeratosis follicularis [Darier's disease; DD] [n = 8], erythrokeratoderma variabilis [EKV] [n = 8]), and 21 healthy volunteers, using two non-invasive methods: transepidermal water loss (TEWL) measuring outward transport of water through the skin by evaporimetry, and the vascular response to hexyl nicotinate (HN) penetration into the skin as determined by laser-Doppler flowmetry. Significantly increased TEWL values were found on the volar forearm in all three forms of ichthyosis, compared with the healthy control group, with the highest TEWL values in the CI group. The penetration of HN on the volar forearm was accelerated in patients with ADI, XRI and CI, as indicated by a shorter lag time (t0) between HN application and initial vascular response. However, differentiation between CI and the other ichthyoses was not possible by this method. When using both methods in DD and EKV, no differences compared with the healthy controls could be detected on the volar forearm, where the skin was principally unaffected; only the measurements from the affected skin on alternative sites demonstrated significantly increased TEWL values. In ADI and CI, however, normal-appearing skin also showed impaired values. We conclude that both TEWL and the vascular response to penetration of HN are suitable methods to monitor the skin barrier function in keratinization disorders, and are helpful in discriminating between these disorders.
Adult↗
Skin barrier function in healthy volunteers as assessed by transepidermal water loss and vascular response to hexyl nicotinate: intra- and inter-individual variability.
This study assesses the variability of two non-invasive methods of measuring stratum corneum barrier function in vivo. Transepidermal water loss (TEWL), and the vascular response to hexyl nicotinate (HN) penetration as determined by laser-Doppler flowmetry, were measured in a group of 21 healthy volunteers. Each time profile of the vascular response to HN penetration was analysed using the following parameters: the baseline cutaneous blood flow, the lag-time between application and initial response (t0), the time between application and maximum response (tmax), the maximum response, and the slope of the curve. TEWL measured on the left volar forearm showed a normal range of 3.9-7.6 g/m2h and a small inter-individual variability [coefficient of variation (CV) 19.4%]. TEWL values at three other forearm sites did not show differences of clinical importance compared with the left volar forearm. The parameters of the vascular response to HN penetration spanned a wider normal range than the TEWL values (CV between 33 and 52%). Repeat measurements after a 1-2 month interval showed highly reproducible individual TEWL values. The mean difference between first and second measurements was only 0.03 g/m2h; the relative difference 0.6%. The intra-individual reproducibility of t0 and tmax. for HN penetration was also high (relative differences of 2.8 and 3.1%, respectively). The other vascular response parameters were less reproducible (relative differences of 6.9-18.6%). We conclude that TEWL and selected parameters of HN penetration, as non-invasive tests of the stratum corneum barrier function, yield reproducible results and are hence useful for investigations assessing the skin barrier function in various disorders.
Adolescent↗
Hepatic injury associated with itraconazole.
Explore the source record for details and available documents.
Aged↗
Evaluation of a self-administered questionnaire on hand dermatitis.
The purpose of the study was to evaluate a self-administered questionnaire on hand dermatitis that was developed to identify persons with hand dermatitis in epidemiological studies. A total of 109 nurses were subject to dermatological examination of the hands within 1 month of returning the questionnaire. 2 types of questionnaire diagnoses were made: a 'symptom-based' diagnosis and a 'self-reported diagnosis'. These were compared to the medical diagnosis of hand dermatitis. The prevalence of hand dermatitis in the 12 months before the study, based on the medical diagnosis, was 18.3%. The prevalence according to the symptom-based diagnosis and the self-reported diagnosis was 47.7% and 17.4%, respectively. The sensitivity and specificity of the symptom-based diagnosis were 100% and 64%, respectively. It is concluded that the symptom-based diagnosis can be used as screening instrument for the detection of cases in large study populations, if followed by dermatological examination of persons with a positive diagnosis. The sensitivity and specificity of the self-reported diagnosis were 65% and 93%, respectively. It is concluded that the self-reported diagnosis can be used to obtain a rough estimate of the prevalence, although comparison of prevalence figures between study populations may be distorted due to a difference in reporting of hand dermatitis. The results of the study illustrate the size of the differences in prevalence estimates that may arise as a result of differences in the definition and method of diagnosing hand dermatitis.
Adolescent↗
The Rapp-Hodgkin syndrome.
We report on a family with the Rapp-Hodgkin ectodermal dysplasia syndrome. Four affected family members are described and a review of the literature is given.
Adult↗
Cosmetics and drugs. Is there a need for a third group: cosmeceutics?
Explore the source record for details and available documents.
Alopecia↗
Expression of EGF receptor, involucrin, and cytokeratins in basal cell carcinomas and squamous cell carcinomas of the skin.
The distribution of several markers of keratinocyte differentiation was studied in normal epidermis, basal cell carcinomas (BCCs), and squamous cell carcinomas (SCCs) using the immunoperoxidase technique on frozen sections of punch biopsy specimens. As markers a panel of chain-specific monoclonal antibodies (MoAbs) directed against cytokeratin (CK) 4, 8, 10, 13, 18 and 19, a polyclonal antiserum against involucrin, as well as a MoAb against the epidermal growth factor (EGF) receptor were used. In 15 out of 19 BCCs tested, expression of CK 8 was seen. Only a few individual cells in a limited number of BCCs showed positive staining for CK 4, 18, or 19. No expression of CK 10 was seen except for some foci of cell keratinization. Involucrin was not found in BCCs except for some squamous horn cysts. In all BCC cells expression of EGF receptor was found. In the suprabasal layers of normal epidermis from SCC patients, positive staining for CK 10 was seen. A few individual cells in a limited number of SCCs showed positive staining for CK 4, 8, or 18. Involucrin was expressed in the center of SCCs and in the upper layers of normal epidermis. Expression of EGF receptor was found in all SCC cells. These results demonstrate differences in cellular origin and differentiation between BCC and SCC.
Basal Cell Carcinoma↗