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Biomedical subjects

A P Oranje

Publications and source records attributed to A P Oranje.

At least 19 recordsLinked to original sources
PubMed2007

C-kit Asp-816-Val mutation analysis in patients with mastocytosis.

BACKGROUND: Mastocytosis is a heterogeneous group of disorders characterized by abnormal accumulation of mast cells. OBJECTIVE: Skin biopsies from 24 patients (23 with proven mastocytosis) were screened for the presence of the c-kit Asp-816-Val mutation. METHODS: In frozen biopsies, RNA was isolated, cDNA synthesis and PCR, the expected PCR product of 346 bp was obtained from 23 patients. RESULTS: In patients with urticaria pigmentosa, the mutation was detected in 38% of the adults and 25% of the children. With regard to the clinical presentation of the disease, no difference was found between adult patients with and without the mutation, as detected with our assay. One out of the 2 children with the mutation had an atypical presentation of the disease. CONCLUSION: the mutation could not be detected in all the patients, probably due to lack of sensitivity of the methods.

Adolescent↗
PubMed2006

Efficacy and safety of 'wet-wrap' dressings as an intervention treatment in children with severe and/or refractory atopic dermatitis: a critical review of the literature.

BACKGROUND: During the last two decades wet-wrap treatment (WWT) has been advocated as a relatively safe and effective treatment modality in children with severe and/or refractory atopic dermatitis (AD). Unfortunately, there are still many unsolved issues concerning the use of wet-wrap dressings in patients with AD. OBJECTIVES: To make an inventory of the different methodologies and to evaluate the currently available evidence for the use of WWT as an intervention treatment in children with severe and/or refractory AD. METHODS: We performed a search of the literature via the online PubMed database. Reference lists from relevant articles were scanned for additional publications. Publications describing a treatment modality for children with severe and/or refractory AD, which included the application of wet dressings, were collected and evaluated using the guidelines of the NHS Centre for Reviews and Dissemination, University of York. RESULTS: Twenty-four publications were included for evaluation. Eleven of the publications detailed original clinical studies (study design level 2-4), while 13 revealed expert opinions (study design level 5). Evidence levels did not exceed level 4. CONCLUSIONS: Large prospective studies evaluating the efficacy and safety profile of WWT are lacking. We were able to formulate the following conclusions with a grade C of recommendation. (i) WWT using cream or ointment and a double layer of cotton bandages, with a moist first layer and a dry second layer, is an efficacious short-term intervention treatment in children with severe and/or refractory AD. (ii) The use of wet-wrap dressings with diluted topical corticosteroids is a more efficacious short-term intervention treatment in children with severe and/or refractory AD than wet-wrap dressings with emollients only. (iii) The use of wet-wrap dressings with diluted topical corticosteroids for up to 14 days is a safe intervention treatment in children with severe and/or refractory AD, with temporary systemic bioactivity of the corticosteroids as the only reported serious side-effect. (iv) Lowering the absolute amount of applied topical corticosteroid to once daily application and further dilution of the product can reduce the risk of systemic bioactivity.

Adolescent↗
PubMed2006

A comparison of twice-daily calcipotriol ointment with once-daily short-contact dithranol cream therapy: a randomized controlled trial of supervised treatment of psoriasis vulgaris in a day-care setting.

BACKGROUND: Calcipotriol has become a first-line treatment for psoriasis. Its efficacy and safety have been shown in many comparative clinical trials carried out in outpatients. In a comparative study in patients visiting the outpatient department once every 14 days, it was shown that calcipotriol was more effective and better tolerated compared with dithranol. OBJECTIVES: To compare the clinical efficacy of calcipotriol ointment with that of dithranol cream in a supervised treatment regimen. METHODS: In a multicentre randomized controlled trial in six centres in the Netherlands, 106 patients with chronic plaque psoriasis were included, 54 receiving calcipotriol ointment twice daily and 52 dithranol cream once daily. Patients were treated at the day-care centre, using the care instruction principle of daily visits during the first week and twice-weekly visits subsequently for up to 12 weeks. RESULTS: This study failed to prove that calcipotriol is as efficacious as dithranol when used in a day-care setting (noninferiority test). The mean percentage reduction in Psoriasis Area and Severity Index from baseline to end of treatment was 57.0% in the calcipotriol group vs. 63.6% in the dithranol group. However, the two-sided test for superiority indicated no statistically significant difference between the treatment groups (P = 0.39). At the end of treatment, 15% of the patients treated with calcipotriol ointment and 25% of those treated with dithranol cream did not require any further treatment. Although calcipotriol ointment appeared to be more effective during the first 8 weeks, a difference was no longer apparent at 12 weeks. In comparison with the high number of drop-outs due to cutaneous side-effects in the calcipotriol group, the frequency of a tolerable degree of irritation appeared to be higher in patients treated with dithranol. However, concomitant corticosteroid treatment of dithranol irritation in seven patients may have contributed to this difference between both treatments. Moreover, patients receiving therapy with calcipotriol ointment experienced fewer application-related skin and subcutaneous tissue disorders than patients treated with dithranol cream: 21 of 53 (40%) and 37 of 52 (71%), respectively. This difference is statistically significant (P = 0.001). CONCLUSIONS: The hypothesis that calcipotriol ointment might be at least as effective as dithranol cream in the day-care setting could not be proven in the present study. Whereas calcipotriol has become a mainstay in the routine outpatient treatment of psoriasis not requiring a day-care setting, dithranol treatment, being difficult as a routine outpatient therapy, has increased efficacy and improved tolerability if the treatment is carried out in a day-care setting.

Adult↗
PubMed2006

Treatment of patients with atopic dermatitis using wet-wrap dressings with diluted steroids and/or emollients. An expert panel's opinion and review of the literature.

BACKGROUND: The use of dampened bandages to reduce inflamed eczema (synonyme dermatitis) is an old remedy. In order to evaluate the current indications for so-called wet-wrap treatment (WWT) for atopic dermatitis (AD), and to compare the different currently recognized methods, a group of experts critically reviewed their own expertise on WWT in respect to the existing literature on the subject. RESULTS: WWT is well tolerated in eczema due to the cooling effect on the skin and the rapid improvement in skin inflammation. It has been shown to be an extremely effective treatment for acute erythrodermic dermatitis, therapy-resistant AD and intolerable pruritus. Advantages of WWT include rapid response to therapy, reduction in itch and sleep disturbance, and potential for reduction in usage of topical corticosteroids (TCS). However, disadvantages include high cost, the necessity for special training in usage, potential for increased TCS absorption, increased cutaneous infections and folliculitis, and poor tolerability. Precautions to reduce the risks of long-term treatment should include education, monitoring of weight and height and, if necessary, serum cortisol levels. In adolescents the risk of striae from TCS absorption around puberty is high, and WWT with TCS in this age group should be used as a short-term therapy only and with extreme caution. To reduce risks, dilutions of steroids may be used ranging from 5 to 10%. In the maintenance phase this treatment can be rotated with the use of emollients only. Low potency TCS should be used on the face (with a mask). CONCLUSION: WWT using diluted steroids is a relatively safe addition to the therapeutic treatment options for children and adults with severe and/or refractory AD. Explanation and education is extremely important in the treatment of AD and WWT should only be employed by practitioners trained in its use. Specialized nursing care is essential, especially when using WWT for prolonged periods.

Bandages↗
PubMed2005

[From gene to disease; incontinentia pigmenti and the NEMO-gene].

Incontinentia pigmenti (IP; MIM308310) is a rare neurocutaneous X-dominant inherited disorder. Besides skin and neurological abnormalities, there is also ophthalmologic and dental involvement. The first stage is characterised by inflammation and apoptosis of the skin and central nervous system. The first stage consists of vesicles and the second of verrucous elements; the third stage is characterised by hyperpigmentation while the fourth is characterised by slightly atrophic hypopigmentations. The skin abnormalities follow the lines of Blaschko. The disorder is observed almost exclusively in girls, but diseased boys are more seriously affected. The IP gene is localised on chromosome Xq28. Mutations in the NEMO-gene are responsible for IP. This gene codes for the nuclear factor-KB essential modulator protein (NEMO; synonym: inhibitor kappaB kinase (IKK)y). In the absence of serious neurological symptoms, the prognosis is not poor.

Female↗
PubMed2005

Comparison of serum tryptase and urine N-methylhistamine in patients with suspected mastocytosis.

BACKGROUND: The disease extent of mastocytosis can be assessed by measurement of mediators or their metabolites, secreted from mast cells. In the present study, we compared results of urinary N-methylhistamine measurements with analysis of total tryptase in serum from patients with suspected mastocytosis. METHODS: Tryptase in serum was determined with the UniCAP tryptase fluor-enzyme-immunoassay, according to the manufacturers' instructions (Pharmacia, Woerden, Netherlands). N-methylhistamine in urine was determined by competitive radioimmunoassay, according to the manufacturers' instructions (Pharmacia). RESULTS: A significant correlation between serum tryptase and urine N-methylhistamine was found both for 138 patients aged 14 or older (Spearman Rank r(s)=0.43, p<0.0001) and for 23 younger patients (Spearman Rank r(s)=0.46, p=0.0267). The between-run coefficient of variation of the tryptase assay was half (6.7%) of the one (13%) found with the urinary N-methylhistamine assay. Both for urine N-methylhistamine and serum tryptase, a significant difference was found between corresponding biopsies with an increased number of mast cell aggregates and biopsies without such an increase. The difference between tryptase levels however was stronger (Mann-Whitney: p=0.0012) than the difference between N-methylhistamine levels (Mann-Whitney: p=0.0140). CONCLUSION: Serum tryptase discriminates better than urinary N-methylhistamine between patients with an increased number of mast cell aggregates and persons without such an increase.

Humans↗
PubMed2005

Mast cell distribution in normal adult skin.

AIMS: To investigate mast cell distribution in normal adult skin to provide a reference range for comparison with mastocytosis. METHODS: Mast cells (MCs) were counted in uninvolved skin adjacent to basal cell carcinomas and other dermatological disorders in adults. RESULTS: There was an uneven distribution of MCs in different body sites using the anti-tryptase monoclonal antibody technique. Numbers of MCs on the trunk, upper arm, and upper leg were similar, but were significantly different from those found on the lower leg and forearm. Two distinct groups were formed--proximal and distal. There were 77.0 MCs/mm2 at proximal body sites and 108.2 MCs/mm2 at distal sites. Adjusted for the adjacent diagnosis and age, this difference was consistent. The numbers of MCs in uninvolved skin adjacent to basal cell carcinomas and other dermatological disorders were not different from those in the control group. Differences in the numbers of MCs between the distal and the proximal body sites must be considered when MCs are counted for a reliable diagnosis of mastocytosis. A pilot study in patients with mastocytosis underlined the variation in the numbers of MCs in mastocytosis and normal skin, but showed a considerable overlap. The observed numbers of MCs in adults cannot be extrapolated to children. CONCLUSIONS: MC numbers varied significantly between proximal and distal body sites and these differences must be considered when MCs are counted for a reliable diagnosis of mastocytosis. There was a considerable overlap between the numbers of MCs in mastocytosis and normal skin.

Adolescent↗
PubMed2004

The prevalence of positive reactions in the atopy patch test with aeroallergens and food allergens in subjects with atopic eczema: a European multicenter study.

BACKGROUND: The atopy patch test (APT) was proposed to evaluate IgE-mediated sensitizations in patients with atopic eczema (AE). OBJECTIVE: The prevalence and agreement with clinical history and specific IgE (sIgE) of positive APT reactions was investigated in six European countries using a standardized method. METHODS: A total of 314 patients with AE in remission were tested in 12 study centers on clinically uninvolved, non-abraded back skin with 200 index of reactivity (IR)/g of house dust mite Dermatophagoides pteronyssinus, cat dander, grass, and birch pollen allergen extracts with defined major allergen contents in petrolatum. Extracts of egg white, celery and wheat flour with defined protein content were also patch tested. APT values were evaluated at 24, 48, and 72 h according to the European Task Force on Atopic Dermatitis (ETFAD) guidelines. In addition, skin-prick test (SPT) and sIgE and a detailed history on allergen-induced eczema flares were obtained. RESULTS: Previous eczema flares, after contact with specific allergens, were reported in 1% (celery) to 34% (D. pteronyssinus) of patients. The frequency of clear-cut positive APT reactions ranged from 39% with D. pteronyssinus to 9% with celery. All ETFAD intensities occured after 48 and 72 h. Positive SPT (16-57%) and elevated sIgE (19-59%) results were more frequent. Clear-cut positive APT with all SPT and sIgE testing negative was seen in 7% of the patients, whereas a positive APT without SPT or sIgE for the respective allergen was seen in 17% of the patients. APT, SPT and sIgE results showed significant agreement with history for grass pollen and egg white (two-sided Pr > /Z/ < or = 0.01). In addition, SPT and sIgE showed significant agreement with history for the other aeroallergens. With regard to clinical history, the APT had a higher specificity (64-91% depending on the allergen) than SPT (50-85%) or sIgE (52-85%). Positive APT were associated with longer duration of eczema flares and showed regional differences. In 10 non-atopic controls, no positive APT reaction was seen. CONCLUSION: Aeroallergens and food allergens are able to elicit eczematous skin reactions after epicutaneous application. As no gold standard for aeroallergen provocation in AE exists, the relevance of aeroallergens for AE flares may be evaluated by APT in addition to SPT and sIgE. The data may contribute to the international standardization of the APT.

Adolescent↗
PubMed2002

Natural course of sensitization to cow's milk and hen's egg in childhood atopic dermatitis: ETAC study group.

BACKGROUND: Sensitization to food allergens has been implicated in the pathogenesis of atopic diseases, in particular atopic dermatitis (AD). The aim of the present paper is to investigate the natural course of sensitization to egg and to cow's milk and its relationship with the severity of AD. METHODS: The placebo intention-to-treat population of the ETACTM (Early Treatment of the Atopic Child) study consisted of 397 children with AD aged 12-24 months (mean+ SD: 17.2 + 4.1 months) who were followed for 18 months. All children were examined for objective SCORing Atopic Dermatitis (SCORAD) and specific IgE amongst other, to egg and to cow's milk at inclusion and after 3, 12 and 18 months. Fifteen patients were excluded from this analysis due to major protocol violations thus leaving 382 patients in the analysed population. RESULTS: Sensitization to egg and to cow's milk was more common in atopic children with severe AD at all time-points. At inclusion, children sensitized to both egg and to cow's milk had the most severe AD (Kruskall-Wallis test P= 0.007). The degree of sensitization expressed in RAST classes was significantly related to the severity of AD. Furthermore, children sensitized to egg or to cow's milk at inclusion had a higher risk of persistence of AD (84% and 67%, respectively, vs. 57% in those not sensitized) and a higher objective SCORAD after 18 months follow-up. CONCLUSION: We found an association between severity of AD and sensitization to egg or to cow's milk. Moreover, sensitization to egg, and to a lesser extent cow's milk, indicates a worse outcome of AD in terms of persistence and severity of the disease.

Animals↗
PubMed2002

Urinary N-methylhistamine as an indicator of bone marrow involvement in mastocytosis.

Thirty-seven patients with mastocytosis and unexplained elevated levels of urinary N-methylhistamine who were undergoing bone marrow biopsy were studied with respect to the diagnosis of mastocytosis and the manifestations of the disease. These patients were from a group of 66 patients from whom a bone marrow biopsy was obtained and urinary N-methylhistamine levels were measured in the period 1990-1998. In seven (19%) of the 37 patients, mastocytosis was limited to the skin. Five (14%) of the 37 patients showed accumulation of mast cells in the bone marrow without characteristic skin lesions, whereas seven (19%) of the 37 patients showed increased numbers of mast cells both in the skin and the bone marrow. Eighteen (49%) of the 37 patients with elevated N-methylhistamine did not have mast cell accumulation in either the skin or the bone marrow biopsy. The median level of N-methylhistamine in the urine of patients with mastocytosis limited to the skin was 245 micro mol/mol creatinine. The average level of N-methylhistamine was 509 micro mol/mol creatinine in patients with mast cell accumulation in the bone marrow and cutaneous mastocytosis. There was a significant difference in the levels of N-methylhistamine in patients with mast cell accumulation in the bone marrow biopsy compared with those without. The likelihood of mastocytosis with mast cell accumulation in the bone marrow biopsy at a given level of N-methylhistamine was calculated. It was established that an N-methylhistamine level of 297 micro mol/mol creatinine or higher may be considered as a threshold indicator for obtaining a bone marrow biopsy in patients suspected of mastocytosis with mast cell accumulation in the bone marrow. For practical purposes, we propose to consider the cut-off level of approximately 300 micro mol/mol N-methylhistamine creatinine for this assay.

Biomarkers↗
PubMed2002

Comparison of mastocytosis with onset in children and adults.

OBJECTIVE: To compare the incidence, symptomatology and course of mastocytosis with onset in childhood and in adults. DESIGN: Retrospective study of 101 patients with mastocytosis who were referred from 1980 to 1998. PATIENTS: Medical records of 65 cases of mastocytosis with onset in childhood and 36 in adulthood were analysed. The clinical course was assessed in a subgroup consisting of 33 subjects with childhood onset who were followed up until at least adolescence and 12 subjects with adult onset who were followed up for at least 10 years. RESULTS: The onset of the disease occurred before the age of 2 years in 50% and between the ages of 2 and 15 years in 14% of cases (childhood onset). In 36% of patients onset occurred at the age of 16 years and older (adult onset). An incidence peak of 60% was noted in the first year of life. Mast cell-mediated symptoms were not experienced by 21 of 36 adult onset mastocytosis patients nor by 27 of 65 childhood onset mastocytosis patients. Complete resolution was observed in five of 33 children. The majority of childhood onset cases (21 of 33) showed some improvement. Complete resolution was achieved in three of 12 adults. The majority of the remaining adults (eight of 12) showed no improvement. CONCLUSIONS: We confirm the incidence of onset of mastocytosis previously reported in the literature. We conclude that childhood onset mastocytosis is much less transitory than generally is assumed, although improvement occurs in the majority of cases. Symptomatology and clinical course of adult onset mastocytosis is less severe than suggested in the literature.

Adolescent↗
PubMed2002

Childhood discoid lupus erythematosus: report of five new cases and review of the literature.

Discoid lupus erythematosus (DLE) is an uncommon disease in childhood. In this paper we present five new cases of childhood DLE. Two of them are identical twin brothers, who developed similar lesions during an interval of 5 years. This is in favour of the hypothesis that both genetic factors and somatic mutations, due to environmental factors, are implicated in the pathogenesis. A review of the English language literature is also presented. In order to have better epidemiological data on this disease, all cases of childhood DLE, including those published in non-English literature and those not yet published, should be placed together and analysed.

Biopsy, Needle↗
PubMed2002

Collodion baby: a follow-up study of 17 cases.

Seventeen cases of collodion baby are reported. Clinical aspects, complications, treatment, final outcome and family history were studied. We did not observe any clinical features in the collodion baby that could serve as a clue in predicting the final diagnosis. Infections were observed in nine, hypothermia in five and hypernatraemic dehydration in four cases. Skin infection mainly occurred in babies treated with emollients (petrolatum, lanolin and cetomacrogolis cream were used). We therefore recommend treating the collodion baby in a humidified incubator, if necessary with intravenous rehydration, but not to use emollients. The final outcome of these study patients was erythrodermic autosomal recessive lamellar ichthyosis in seven cases (41%), non-erythrodermic autosomal recessive lamellar ichthyosis in three cases (18%), Sjögren-Larsson in one case (6%), epidermolytic hyperkeratosis in one case (6%), acute neonatal variant of Gaucher disease in one case (6%) and normal skin in four cases (24%).

Female↗
PubMed2002

Treatment of refractory atopic dermatitis using 'wet-wrap' dressings and diluted corticosteroids: results of standardized treatment in both children and adults.

BACKGROUND: 'Wet-wrap' dressings with diluted corticosteroids form an alternative treatment in patients with refractory atopic dermatitis (AD). OBJECTIVE: To evaluate a standardized treatment, using wet-wrap dressings with diluted corticosteroids, in patients with refractory AD. METHODS: Results of treatment, complications and possible side effects were retrospectively evaluated in 14 children and 12 adults. RESULTS: Skin lesions improved dramatically during 1 week of inpatient treatment. A significant decrease in early-morning serum cortisol levels was measured. Levels below the normal range were only observed after 1 week in 2 adults and on day 4 in 3 children. Suppression of the hypothalamus-pituitary-adrenal-cortex axis in 1 adult and a new exacerbation of AD in 2 children and 3 adults complicated long-term treatment at home. Additional complications included folliculitis, a Pseudomonas aeruginosa infection, a secondary bacterial infection and refractory skin lesions between bandages. CONCLUSION: Wet-wrap dressings and diluted corticosteroids form an effective treatment in patients with refractory AD.

Administration, Topical↗
PubMed2001

Clinico-immunological heterogeneity in Comèl-Netherton syndrome.

BACKGROUND: Comèl-Netherton syndrome (CN) is characterized by atopic-eczema-like skin abnormalities combined with linear ichthyotic lesions, hair shaft abnormalities and atopy with high IgE levels. OBJECTIVE: Five children with CN are described. In 2 of the 3 CN patients still alive, analysis of cytokines regulating IgE synthesis was performed. METHODS: In peripheral blood mononuclear cells and cultures of purified T cells, mRNA expression and protein production of interleukin 4 (IL-4), IL-13, IL-5 and interferon gamma were analysed. The results were compared with the values in age-matched atopic dermatitis patients and healthy children. RESULTS: The 5 CN patients showed striking differences in disease severity and evolution. Marked differences were found in several cytokines in the 2 analysed CN patients. Low percentages of natural killer cells were observed in both CN patients. CONCLUSION: The regulation of IgE production in patients with CN is varied and complex. The CN patients were heterogeneous in terms of Th2 skewing.

Child↗
PubMed2001

Validation of beighton score and prevalence of connective tissue signs in 773 Dutch children.

OBJECTIVE: Validation of the Beighton Score and the prevalence of connective tissue signs were investigated in Dutch children. METHODS: Hypermobility investigation according to Beighton was undertaken in 773 healthy children aged 4-12 years. An inventory of the signs that fitted with connective tissue disorders was compiled. RESULTS: The percentage of general hypermobility at a cutoff point of > or = 4 was 26.5% (range 11.4-49%) in children aged 4-9 yrs. At the age of 10-12 yrs, this percentage was 5.3% (range 0-7.1%). There was good agreement (kappa = 0.65) between the measurement on the left and the right sides at all ages. Of the investigated connective tissue signs, thin transparent skin was noted in 0.1%, blue sclerae in 0.1%, and an elevated palate in 2.3% of the children. It was observed that 8.2% of the children were able to touch their nose with their tongue (Gorlin's sign) and 23.7% were able to touch their chin. The other signs were not observed in any of the children. CONCLUSION: We validated the criteria for performing the Beighton Score in (Dutch) children. A cutoff point of > or = 5 should be chosen for Dutch children aged between 4 and 9 years. It appeared that one-sided Beighton Score could be determined during screening of healthy populations. Additional diagnostic tests are warranted if one of the following signs, such as a thin transparent skin, hyperelastic skin, large hematomas, prominent scars, molluscoid tumors, striae distensae, blue sclerae, elevated palate, and Gorlin's sign, is encountered in a child. Although it is not possible to extrapolate the data, we expect that the findings are relevant for children of Caucasian race.

Child↗
PubMed2000

Recurrent digital fibroma, focal dermal hypoplasia, and limb malformations.

Recurrent digital fibroma of infancy generally is considered a sporadic tumor of childhood. We describe the case of a mother with recurrent digital fibroma at a young age who gave birth to a daughter with focal dermal hypoplasia, coloboma of the iris and eyelids, anal atresia, and extensive limb malformations. When the infant was 3 months old, fibromas started to appear at the fingertips. The cases of three additional patients are described, with a similar combination of multiple digital fibromas, pigmented marks on the temporal region, and limb malformations. One of these patients has consanguineous parents. The clinical findings overlap partially with Gorlin-Goltz syndrome, which has been renamed by some authors "microphthalmia with linear skin defects" (MLS). Since the skin signs are clearly different, however-more like those of Setleis syndrome ("forceps mark" temporal dysplasia)-the patients described here seem to have a new combination of congenital malformations. Deletion of distal Xp, known to occur in some MLS patients, was not detected using cosmids in fluorescence in situ hybridization. This pattern of digital fibroma with congenital malformations seems to represent a new syndrome.

Abnormalities, Multiple↗