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Biomedical subjects

Uwe Wollina

Publications and source records attributed to Uwe Wollina.

At least 19 recordsLinked to original sources
PubMed2006

The spectrum of WRN mutations in Werner syndrome patients.

The International Registry of Werner syndrome (www.wernersyndrome.org) has been providing molecular diagnosis of the Werner syndrome (WS) for the past decade. The present communication summarizes, from among 99 WS subjects, the spectrum of 50 distinct mutations discovered by our group and by others since the WRN gene (also called RECQL2 or REQ3) was first cloned in 1996; 25 of these have not previously been published. All WRN mutations reported thus far have resulted in the elimination of the nuclear localization signal at the C-terminus of the protein, precluding functional interactions in the nucleus; thus, all could be classified as null mutations. We now report two new mutations in the N-terminus that result in instability of the WRN protein. Clinical data confirm that the most penetrant phenotype is bilateral ocular cataracts. Other cardinal signs were seen in more than 95% of the cases. The median age of death, previously reported to be in the range of 46-48 years, is 54 years. Lymphoblastoid cell lines (LCLs) have been cryopreserved from the majority of our index cases, including material from nuclear pedigrees. These, as well as inducible and complemented hTERT (catalytic subunit of human telomerase) immortalized skin fibroblast cell lines are available to qualified investigators.

Adult↗
PubMed2006

Glabellar pomade crust mimicking dyskeratosis follicularis.

A 79-year-old female patient presented with a slowly developing crusting, itching verrucous lesion of the forehead of 3 months' duration. She had no personal or family history of skin disease. On examination she presented with a hyperpigmented plaque of the glabellar region that resembled dyskeratosis follicularis Darier. A detailed medical history was taken and a skin biopsy was performed. Epidermal acanthosis and enlargement of follicle ostia with foreign material were found. The patient reported use of an ointment twice daily. She had a single cosmetic treatment where powder of unspecified composition had been used. The diagnosis of pomade crust was confirmed. Follicular material was enucleated mechanically and the area was treated with a metronidazole cream. The lesions completely disappeared.

Aged↗
PubMed2006

[Disseminated juvenile xanthogranuloma].

Juvenile xanthogranuloma (JXG) is the most common type of non-Langerhans cell histiocytosis occurring predominantly in infants and children. Typical lesions are asymptomatic red-yellow papules and nodules on the scalp or in the axillae or groins. Multiple lesions are more common in children than in adults. A 2-year old girl presented with approximately 20 red-brown lesions, leading to the diagnosis of disseminated JXG. Internal involvement was excluded. Spontaneous regression occurred over 6 months of follow-up. A wait-and-see strategy is recommended for cutaneous JXG.

Child, Preschool↗
PubMed2006

A review of the microcirculation in skin in patients with chronic venous insufficiency: the problem and the evidence available for therapeutic options.

Impairment of the cutaneous microcirculation is a major predisposing factor in inflammation and ulceration in patients with chronic venous insufficiency (CVI). Increase of capillary filtration rate predisposes to the formation of edema. Local lymphedema is a complication of CVI, often underdiagnosed. This review is focused on CVI but excludes the complication of ulceration. Treatment of microcirculatory dysfunction can be done by pharmacologic intervention or compression therapy or using a combination of both. This review is focused on drugs that have been evaluated by randomized prospective controlled trials. The following compounds are discussed: horse chestnut seed extracts, flavonoids, red vine leaves extracts, total triterpenic fraction of Centella asiatica (L), prociadins, calcium dobesilate, and pentoxifylline. The microcirculatory effects of compression therapy using bandages or stockings are also reviewed. The major microcirculatory effects that have been shown are the reduction of capillary filtration rate and improvements in levels of transcutaneous partial pressures of oxygen and carbon dioxide (TcPO(2) and TcPCO(2)). Available data suggest that a combination of pharmacologic and compression therapy may have some additive effects.

Chronic Disease↗
PubMed2006

Topical pimecrolimus for skin disease other than atopic dermatitis.

Pimecrolimus is an ascomycin macrolactam. It is a specific calcineurin inhibitor that allows topical application. The highly lipophilic nature of this compound reduces the risk of systemic absorption through normal and inflammed skin. Pimecrolimus shows activity not only against T-cell activation, but also against mast cells and pruritus. Pimecrolimus 1% cream is approved for atopic dermatitis, and also has a great potential in other inflammatory skin diseases. Clinical trials have been performed in contact- and seborrhoeic dermatitis, genital lichen sclerosus, intertriginous psoriasis and cutaneous lupus erythematosus. In other diseases, the available data are limited to small case series, or individual cases of graft-versus-host disease or Netherton's disease. Although the use of calcineurin inhibitors in the treatment of vitiligo is promising, detailed studies with pimecrolimus and ultraviolet-irradiation are necessary and there is a need for prospective randomised, double-blind controlled trials.

Administration, Topical↗
PubMed2006

Dermatomyositis: immunopathologic study of skin lesions.

BACKGROUND: The pathogenesis of the inflammatory processes in the skin of dermatomyositis patients remains unclear. The aim of this study was to investigate the patterns of proliferation and apoptosis of epidermal keratinocytes and dermal infiltrating cells in DM patients. MATERIAL AND METHODS: Seventeen skin biopsy specimens from patients with dermatomyositis, which fulfilled the diagnostic criteria of Bohan and Peter, and Euwer and Sontheimer, were immunohistochemically investigated with monoclonal antibodies against human Ki-67, Bcl-2, CD3, CD4, anti-CD 45RO and a reaction was detected by streptovidine-biotin complex (Uni-Pak ABC). RESULTS: The lesional skin showed a marked increase of Ki-67-positive keratinocytes, which were predominantly located in the basal and germinative layer, but a lack of cells in areas of vacuolar degeneration and epidermal atrophy. A drastic reduction in the number of Bcl-2-positive cells localized in the basal cell compartment was observed. Antigen activated T lymphocytes (CD 45RO+) and CD3+ cells were in higher prevalence in dermal perivascular infiltrates of the affected skin. CONCLUSION: The defective regulation of apoptosis may play an important role in the development of cutaneous lesions of patients with dermatomyositis, in which the skin is a prominent target organ. Abnormal expression of Ki-67 and diminution of Bcl-2 in the epidermis, coupled with the perivascular location of T cells in the dermis are crucial keys to the histological diagnosis of dermatomyositis.

Adult↗
PubMed2005

Identification of HNP3 as a tumour marker in CD4+ and CD4- lymphocytes of patients with cutaneous T-cell lymphoma.

Cutaneous T-cell lymphomas (CTCL) are characterized by malignant proliferation of skin homing T-cells. Although prognosis is generally good, reliable markers are needed to identify patients at risk for a more aggressive course. ProteinChip (SELDI) technology was used as a tool for the discovery of protein patterns in lymphocytes from patients with CTCL (n=25) and unaffected controls (n=25). Lymphocytes were separated in CD4+ and CD4- fractions by magnetic cell sorting (MACS). Each whole protein extract was analysed by ProteinChip technology. The resulting protein profiles were submitted for bioinformatic analysis including a clustering algorithm, a rule extraction, a rating and a rule-base construction step. For the generated combined rule base for the CD4- cell fraction, both the sensitivity and specificity for the prediction of CTCL reached 96%, while for the CD4+ fraction they were 92% and 84%, respectively, for sensitivity and specificity. The most significant peak at 3489Da could be identified as HNP3, an alpha-defensin, by immunocapturing. These results open up both the possibility for the use of this protein signature, especially HNP3, to more effectively monitor and screen CTCL, and the avenue to identify the other relevant peaks for a better understanding of the development of this tumour.

Biomarkers, Tumor↗
PubMed2005

Botulinum toxin in dermatology - beyond wrinkles and sweat.

Botulinum toxin (BTX) types A and B have been used with success in cosmetic dermatology and hyperhidrosis treatment. The present review focuses on other uses of BTX in dermatology. Discussed in particular are the available data on BTX in inflammatory diseases, proctology, and some other indications. From studies in various types of eczema, it seems that BTX-A not only acts as a potent inhibitor of acetylcholine but also as an inhibitor of substance P and of glutamate as well. By those mechanisms, BTX-A may be antipruritic, which may help explain the benefits of BTX-A in lichen simplex and dyshidrotic hand eczema. In Hailey-Hailey disease, facial eccrine hidrocystomas, salivary fistulas, and intrinsic rhinitis, BTX-A blocks the secretion of sweat/saliva/mucus. BTX-A has important applications in proctology where it has become the most powerful nonsurgical therapy for anal fissures. In proctalgia fugax and after hemorrhoidectomy, BTX-A is analgesic. Current treatment applications of BTX-A and its limitations are reviewed in this paper.

Journal Article↗
PubMed2005

Leg ulcers are a diagnostic and therapeutic challenge.

Leg ulcers are common. They cause a substantial burden to the patient and society. However, there is no need for therapeutic nihilism. The target of leg ulcer therapy is the individual patient. To be treated in a rational and successful way, exact diagnosis of the underlying cause(s) and associated diseases is necessary. This can be done in the most effective way with an interdisciplinary approach. The collection of cases demonstrates the need for careful clinical investigation substantiated and supported by vascular, histopathologic, and microbiologic techniques whenever needed. It is difficult to heal every ulcer completely, but improvement of the medical situation as well as the quality of life of the patient is possible in most cases.

Adult↗
PubMed2005

Some effects of a topical collagen-based matrix on the microcirculation and wound healing in patients with chronic venous leg ulcers: preliminary observations.

The microcirculation of the wound bed is a key parameter for improving granulation tissue formation and, hence, wound healing. The aim of this study was to determine whether a wound dressing comprising collagen/oxidized regenerated cellulose has effects over a short term on wound healing. Wounds were evaluated using a clinical wound score; pain associated with wounds was measured using a visual analogue scale. Wound microcirculation was evaluated using a technique based on noncontact remission spectroscopy. A prospective trial was performed in 40 patients with chronic venous leg ulcers (mean age 74 years; range, 43-93 years; 25 females and 15 males). Patients in group A were treated with PROMOGRAN Matrix (Johnson& Johnson, New Brunswick, NJ) combined with "good" ulcer care for 2 weeks. Control group B consisted of 10 patients who received only good ulcer care. The authors measured a favorable clinical response in 76.9% (group A) versus 66.7% (group B). The mean reduction of ulcer area was statistically significant in group A (P < .05). The wound score improved in group A from 2.28 +/- 1.24 (before treatment) increasing to 3.72 +/- 1.57 (after 1 week; P < .00023) and 4.92 +/- 1.68 (after 2 weeks; P < .000027). In group B, the score improved from 1.44 +/- 1.33 (before treatment) to 3.22 +/- 1.30 (after 1 week; P < .0077). The mean visual analogue pain score before treatment was 8.72 (group A) and 7.88 (group B) (ns, P > .05). After 1 week of treatment, the score dropped to 5.76 (group A) and 6.66 (group B). In the second week, group A patients had a mean pain score of 3.84 compared with the pain score before treatment (P < .05). After 1 week of treatment, in group A there was a decrease in remission spectroscopy, which is considered to reflect an improvement in microcirculation.

Adult↗