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H Traupe

Publications and source records attributed to H Traupe.

At least 19 recordsLinked to original sources
PubMed2006

Towards characterization of palmoplantar keratoderma caused by gain-of-function mutation in loricrin: analysis of a family and review of the literature.

Loricrin keratoderma is an autosomal dominant palmoplantar keratoderma heterogeneous in clinical appearance. We report a family with diffuse ichthyosis and honeycomb palmoplantar keratoderma but no occurrence of pseudoainhums or autoamputations. All patients were born as collodion babies and displayed prominent knuckle pads. We identified the previously reported mutation 730insG in LOR, which elongates loricrin by 22 amino acids because of delayed termination. As pseudoainhums are missing in all patients of the family reported, we propose two compulsory features of loricrin keratoderma: (i) honeycomb palmoplantar keratoderma and (ii) diffuse ichthyosiform dermatosis. Therefore we suggest that the condition should be described clinically as 'honeycomb palmoplantar keratoderma with ichthyosis'. Furthermore, we have assessed the amounts of transcript of LOR using pyrosequencing. This revealed an equal expression of mutant and wild-type alleles of LOR in an affected individual. These findings further underline the gain-of-function theory for mutant LOR in loricrin keratoderma.

DNA Mutational Analysis↗
PubMed2006

Plasminogen activator inhibitor-2 is expressed in different types of congenital ichthyosis: in vivo evidence for its cross-linking into the cornified cell envelope by transglutaminase-1.

BACKGROUND: Plasminogen activator inhibitor-2 (PAI-2), a regulatory serpin of the plasminogen activator (PA) system, has been described as a potential component of the cornified cell envelope (CE). Protease inhibitors are essential for skin homeostasis and in particular for the regulation of the desquamation process. Therefore, an aberrant expression of PAI-2 could be involved in the pathogenesis of certain cornification disorders. OBJECTIVES: Evaluation of the expression of PAI-2 in different types of congenital ichthyosis, especially in lamellar ichthyosis/nonbullous congenital ichthyosiform erythroderma (LI/NCIE) and in Netherton syndrome (NTS). Demonstration of the functional relationship between PAI-2 and transglutaminase (TGase)-1. PATIENTS AND METHODS: Using immunohistochemistry we evaluated cryosections from individuals suffering from LI/NCIE (n=67), NTS (n=6), ichthyosis-follicularis-atrichia-photophobia syndrome (n=2) and Harlequin ichthyosis (n=1) in comparison with psoriasis vulgaris and healthy skin. Moreover, we assessed the respective TGase-1 activity and the presence of TGase-1 protein. A functional assay was developed to elucidate whether PAI-2 is a substrate for TGase-1. RESULTS: PAI-2 is expressed in different types of congenital ichthyosis and there is a strong correlation between TGase-1 activity and PAI-2 protein signal. Double staining revealed a strong colocalization of TGase-1 activity and PAI-2 protein. The epidermal incorporation of the specific PAI-2 peptide containing a TGase binding site revealed a strong pericellular staining in the stratum granulosum in healthy skin. In contrast, TGase-1-deficient skin showed only a lamellar staining in the stratum corneum. CONCLUSIONS: We provide in vivo evidence that PAI-2 is a substrate of TGase-1. The normal expression of PAI-2 in a large group of TGase-1-proficient LI/NCIE patients makes it rather unlikely that PAI-2 alone is a primary molecular cause of LI/NCIE.

Epidermis↗
PubMed2005

Evidence for susceptibility determinant(s) to psoriasis vulgaris in or near PTPN22 in German patients.

INTRODUCTION: Variant R620W of protein tyrosine phosphatase non-receptor type 22 (PTPN22) has consistently been reported as a susceptibility factor for several autoimmune diseases. We investigated its role in susceptibility to psoriasis, the relevance of possibly other disease-causing variants, and interdependency of the major risk factor for psoriasis at PSORS1. METHODS: R620W was tested in a case-control study initially with 375 German patients and then with an enlarged sample of an additional 418 patients. Analyses were extended to linkage disequilibrium (LD) based haplotypes. Potential interaction between risk haplotypes of PTPN22 and the PSORS1 associated risk allele was tested by regression analysis. PTPN22 coding sequence was determined in 20 patients carrying the risk haplotype. Association and regression analysis were also performed in the extended case-control study. RESULTS: R620W was not associated in either case-control study, while significant association (corrected for multiple testing) with one haplotype (C-4) of the LD block encompassing PTPN22 as well with another haplotype (B-3) within an adjacent telomeric LD block was detected. No evidence for interaction between risk haplotype C-4 and the PSORS1 associated risk allele was found. Sequencing excluded other coding variants within PTPN22 as a basis for association findings. Analysis of the extended study group confirmed association for haplotypes B-3 and C-4 and independence of risk haplotypes C-4 and PSORS1. DISCUSSION: We exclude a major role of *620W in German psoriasis patients but suggest that other susceptibility determinant(s) within non-coding regions of PTPN22 or its proximity might exist acting independently of the major PSORS1 risk factor.

Alleles↗
PubMed2005

Upper cranial nerve palsy resulting from spontaneous carotid dissection.

INTRODUCTION: Upper cranial nerve palsy has a variety of causes such as cerebral and nerve ischemia, diabetes, infectious and non-infectious meningitis, subarachnoid hemorrhage and intracranial aneurysm. CASE 1 : A 45-year-old man suffered from holocephalic headaches and a right-sided neck pain for two weeks. He presented to our emergency department because of a sudden ptosis of the right eye. On admission neurological examination revealed a right sided Horner's syndrome and hypesthesia of the right side of the face. Magnetic resonance angiography identified a circumscribed dissection of the right extracranial internal carotid artery originating from the carotid bifurcation. Conventional angiography 2 weeks later showed a nearly recanalized artery. CASE 2 : A 55-year-old previously healthy man without cardiovascular risk factors developed right sided neck pain when loading a seeder with several sacks of crop. A few hours later he noticed a left-sided weakness. On admission a severe left sided hemiparesis and a mild neglect were present. Duplex sonography revealed a right-sided distal internal carotid artery (ICA) occlusion. The next morning the patient complained of double vision; he had a right-sided pupil-sparing oculomotor palsy. The diagnosis of ICA dissection was confirmed by conventional angiography, at that time showing a partially recanalized ICA without involvement of the cavernous region by the dissection. CONCLUSION: ICA dissection must be included in the differential diagnosis of upper cranial nerve palsy and should be assessed by duplex ultrasound and magnetic resonance imaging. A possible explanation is nerve ischemia due to a transient or permanent interruption of the blood supply by compression of the vasa nervorum originating from the intracranial carotid artery.

Carotid Artery, Internal, Dissection↗
PubMed2004

Lack of genetic association of the three more common polymorphisms of CARD15 with psoriatic arthritis and psoriasis in a German cohort.

OBJECTIVE: To determine whether the three common independent sequence variants of the putative pleiotropic non-MHC autoimmune gene CARD15 influence disease susceptibility in large German cohorts of patients with psoriatic arthritis and psoriasis vulgaris, before and after stratification to HLA-C. METHODS: DNA was obtained from 375 patients with psoriatic arthritis, 281 patients with psoriasis vulgaris without joint involvement, and 376 controls. The three variants of the CARD15 gene (R702W, G908R, leu1007fsinsC), and two single nucleotide polymorphisms of the HCR gene (HCR-325, HCR-2327) for HLA-C stratification were genotyped using allelic discrimination Taqman assays. RESULTS: No significant differences in genotype frequencies were observed between controls and either the psoriatic arthritis or the psoriasis vulgaris patient population, even after stratification to HLA-C in both patient cohorts, or to the type of joint involvement within the psoriatic arthritis group. CONCLUSIONS: The lack of genetic association between the most common Crohn's disease alleles of the CARD15 gene and psoriatic joint disease on large cohorts of white patients does not support a recently claimed role for CARD15 as the first non-MHC susceptibility gene in the pathogenesis of psoriatic arthritis, but confirms and extends previous studies in the case of psoriasis vulgaris.

Adolescent↗
PubMed2004

[Ichthyoses and related keratinization disorders. Management, clinical features and genetics].

This review concerns ichthyoses and related keratinization disorders. These are rare genetic skin diseases which are associated with marked scaling, often considerable cutaneous inflammation and a severe disease burden both physically as well as psychosomatically. The review briefly discusses how to establish a clinical diagnosis, how to provide genetic counseling for the patient and their family and how to best manage such diseases. Particular emphasis is given to the new possibilities in diagnosis and treatment opened by the recently established network for ichthyoses and related keratinization disorders (NIRK). This network is funded by the German Ministry for Education and Research and aims to integrate research efforts into disease mechanisms and to spread and transfer knowledge about these diseases to achieve better clinical care for the patients.

Biopsy↗
PubMed2004

CD45RA+ ICAM-3+ lymphocytes in interferon-beta1b-treated and -untreated patients with relapsing-remitting multiple sclerosis.

OBJECTIVES: Multiple sclerosis (MS) is believed to be an autoimmune disease of the human central nervous system mediated by autoreactive T cells. Interferon-beta1b (IFN-beta1b) has been shown to be effective in reducing disease activity defined by clinical and magnetic resonance imaging (MRI) criteria in relapsing-remitting MS (RRMS). Yet, the exact mechanisms by which these benefits are achieved remain unknown. CD45RA is a marker for naive T lymphocytes and intercellular adhesion molecule-3 (ICAM-3) is expressed on resting lymphocytes. MATERIAL AND METHODS: Forty-eight patients with RRMS, 24 of them treated with recombinant IFN-beta1b and 24 untreated, were enrolled in this prospective study over 18 months. We investigated the percentage of CD45RA+ ICAM-3+ cells within the total lymphocyte subset in the peripheral blood serially every 3 months and in CSF once at baseline. Detailed clinical examination including Expanded Disability Status Scale (EDSS) score was performed every 3 months and cranial MRI scans were assessed every 6 months. RESULTS: We found a temporary increase in the CD45RA+ ICAM-3+ lymphocyte ratio in peripheral blood of both untreated and IFN-beta1b-treated RRMS patients. Moreover, we determined a significant negative correlation (r = -0.5874; P < 0.01) between age as well as the EDSS score (r = -0.3629; P < 0.05) and the percentages of CD45RA+ ICAM-3+ lymphocytes in peripheral blood but a positive correlation between EDSS score and the CD45RA+ ICAM-3+ ratio (r = 0.3913; P < 0.05) in the CSF at baseline. CONCLUSION: CD45RA+ ICAM-3+ lymphocyte ratio in peripheral blood might indicate immunosenescence in MS. However, from our data it cannot be finally concluded whether it is also influenced by IFN-beta1b treatment.

Adjuvants, Immunologic↗
PubMed2003

[Comèl-Netherton syndrome with bacterial superinfection].

A 10-year old boy, the child of unrelated Bosnian parents presented with a superinfected ichthyotic erythroderma. The clinical features, histological findings and hair analysis led to the diagnosis of the autosomal-recessive inherited Comel-Netherton syndrome witch bacterial superinfection. Under careful therapy with small amounts of topical tacrolimus (Protopic 0.1% ), he improved and had longer disease-free intervals. Tacrolimus was administered intermittently and not during acute flares, thus avoiding systemic resorption even after long-time treatment despite the disturbed epidermal barrier in Comel-Netherton syndrome. Staphylococcus aureus producing enterotoxin C was isolated during flares which were sometimes accompanied by marked bacterial superinfection. It is possible, that this super antigen is involved in the observed aggravation of disease. The topical therapy with tacrolimus is an easy, flexible therapeutic option for this rare genodermatosis.

Anti-Bacterial Agents↗
PubMed2003

[Cervical myelopathy induced by calcium pyrophosphate tophus in primary chondrocalcinosis].

A 78 year old female patient with cervical myelopathy induced by a calcium pyrophosphate dihydrate tophus around the dens axis with clinical signs of a cervical tumor is presented. After operation of the tumor, the diagnosis of a generalized CPPD disease was established retrospectively, where by patient had complained of joint pain already for many years. This known complication of a primary chondrocalcinosis should be a reason for a careful investigation of the cervical spine in CPPD disease, because neurological disturbances might increase the joint destruction in the manner of "Charcot joints".

Aged↗
PubMed2003

Association scan of the novel psoriasis susceptibility region on chromosome 19: evidence for both susceptible and protective loci.

To follow up the novel psoriasis susceptibility region on chromosome 19 (PSORS6), we performed an association scan for psoriasis vulgaris using 45 evenly spaced DNA microsatellite markers. For this study, a new independent sample of 210 nuclear psoriasis families (trio design) from Northern Germany was recruited. We used the family based association test (FBAT) for an association scan over the chromosome 19 region encompassing 50.8 cM. We obtained a positive association for the markers D19S922 (allele 5, P = 0.008) and D19S916 (allele 13, P = 0.016), which correspond to the peak of the region identified in a previously performed scan. We identified two novel regions by a single marker, each showing negative association at D19S917 on 19p13.1 (allele 8, P = 0.0034) and at D19S425 (allele 9, P = 0.0005), compatible with the hypothesis of protective loci. These two novel regions were explored in more detail using novel microsatellite markers at an average distance of 100 kb. A separate analysis distinguishing between familial (n = 137) and sporadic (n = 73) psoriasis families showed that the familial trios contribute strongly in the region around D19S425 (P = 0.004), while the comparably small subset of 73 sporadic trios has a stronger effect at the locus around D19S917 (P = 0.026). These studies confirm the existence of a psoriasis susceptibility locus on chromosome 19 and give first evidence for the existence of both susceptible and protective loci in this region. Analysis of a dense marker set from these refined regions will eventually allow identification of the underlying susceptibility alleles.

Alleles↗
PubMed2003

Interleukin-10 promoter polymorphism IL10.G and familial early onset psoriasis.

BACKGROUND: The anti-inflammatory cytokine interleukin (IL)-10 is considered to play a major role in the pathophysiology of psoriasis, which is characterized by an IL-10 deficiency. Systemic administration of IL-10 has been shown to be an effective therapy for psoriasis. The IL-10 promoter region contains a highly polymorphic microsatellite (IL10.G) and in a recent case-control study the IL10.G13 (144 bp) allele was found to be associated with familial early onset psoriasis (type 1 psoriasis) having a susceptible effect. OBJECTIVES: As it is essential in multifactorial diseases to replicate findings before definite conclusions can be drawn, we decided to perform a follow-up study and to follow a genetic approach analysing allele transmission in families with a positive family history of psoriasis. METHODS: We studied 137 nuclear families (trio-design) comprising 456 individuals and genotyped the IL10.G marker. For comparison we also genotyped the microsatellite tn62 as a reference marker of the major psoriasis susceptibility locus on chromosome 6p21 (PSORS1). In the present study allele transmission was evaluated using the family-based association test (FBAT) and GENEHUNTER 2.0 based on the transmission/disequilibrium test. RESULTS: The G13 allele (144 bp) had a frequency of 24%, was present in 88 families and clearly showed an even transmission (FBAT, P = 0.753). In contrast, allele 3 (IL10.G9) (136 bp) had a frequency of 39%, was present in 110 families and was transmitted in 43 trios and remained untransmitted in 67 trios (FBAT, P = 0.026), thus showing preferential nontransmission. For the HLA-linked tn62-marker we obtained a P-value of 0.00027 for allele 4 in the same study group. CONCLUSIONS: In conclusion, we failed to confirm the susceptible effect of the G13 allele, but provide the first data for a protective effect of allele 3 (IL10.G9) for familial psoriasis. Our results suggest that the IL10.G polymorphism is not a major locus, but acts as a minor locus.

Alleles↗
PubMed2003

[Subcutaneous fat necrosis of the newborn].

Subcutaneous fat necrosis presents as red-to-bluish, indolent, well-circumscribed, subcutaneous nodules and plaques, unusually in healthy infants. Histologically, a lobular panniculitis with a mixed inflammatory infiltrate is seen. Characteristic crystalloid structures can be found within some of the lipocytes and, most prominently, within macrophages. This rarely diagnosed skin disease is harmless and self-limited, yet the associated hypercalcaemia has a high complication rate.

Fat Necrosis↗
PubMed2003

Surgical management of previously coiled intracranial aneurysms.

With the increased use of endovascular therapy in the treatment of ruptured intracranial aneurysms the number of incompletely coiled aneurysms presenting for further management either due to lack of universal durability of this method or due to recurrent rupture is increasing. Since 1998, seven patients with previously coiled aneurysms underwent surgical obliteration of refractory or recurrent lesions. All patients were recorded in a prospective registry. Indications for surgery, the surgical techniques used and patient outcome were analysed. Surgery of recurrent or residual aneurysms resulted in a good outcome in four and a moderate outcome in one patient. Despite early clipping after recurrent haemorrhage after coil occlusion one of the two patients died, the other one had a moderate outcome. Our experience indicates that good results are obtainable, although technical challenges are frequently encountered.

Adult↗
PubMed2003

Contrast media effect on cerebral blood flow regulation after performance of cerebral or coronary angiography.

OBJECTIVE: The immediate hemodynamic effects of contrast agents are well documented. Less is known about their longer-lasting effects. We investigated the later effect of iopromide on the neurovascular coupling mechanism after the performance of cerebral or coronary angiography. Neurovascular coupling is a fine-tuned and reliable mechanism adapting cerebral blood flow to cortical activity. When performing a visual stimulation and measuring the resultant flow velocity change in the posterior cerebral artery transcranial Doppler has been used to determine vascular integrity. METHODS: The visually evoked blood flow velocity response in the posterior cerebral artery was measured with transcranial Doppler before, 1-2 h after and the day after angiography. The overshoot of the flow velocity response and the stable flow velocity level at the end of the stimulation phase were used to compare the different conditions. RESULTS: A significantly diminished overshoot was found 1-2 h after angiography only in patients undergoing cerebral angiography. The stable blood flow velocity levels at the end of the stimulation phase remained unchanged in all cases. CONCLUSIONS: Our finding demonstrates effects of contrast media on dynamic blood flow regulation of the cerebral vasculature 1-2 h after application of direct contrast agent suggesting a possible concentration effect of the contrast agent. However, since the relative blood flow velocity increase under stable blood flow conditions remained constant, this dynamic alteration does not cause a reduction in cerebral blood flow.

Adult↗