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Biomedical subjects

J Lübbe

Publications and source records attributed to J Lübbe.

16 recordsLinked to original sources
PubMed2000

[Vulvodynia and facticious urticaria].

BACKGROUND: The term vulvodynia describes a multifactorial syndrome of chronic vulvar discomfort with burning, itching, pain, and dyspareunia. Due to the paucity of clinical signs, this syndrome is often perceived as a predominantly psychiatric problem. A context of symptomatic dermographism has been reported in rare instances. PATIENTS AND METHODS: In our interdisciplinary consultation of vulvar dermatology, we routinely look for the presence of facticious urticaria. In the last 17 months, we observed 14 patients with an association of facticious urticaria and vulvodynia. RESULTS: The principal symptoms were itching and burning. Sexual intercourse, tight clothes, and stress were most often cited as aggravating factors. The efficacy of a systemic antihistaminic treatment observed in our patients suggests that certain cases of vulvodynia might be an expression of symptomatic dermographism. DISCUSSION: Therefore, a check-up for chronic vulvar discomfort should comprise a test for the presence of facticious whealing. The prevalence of a causal relationship between chronic vulvar discomfort and facticious whealing remains to be established.

Female↗
PubMed1999

Adult-onset Still's disease with persistent plaques.

Adult-onset Still's disease (AOSD) is a systemic disorder characterized by intermittent fever, evanescent rash, arthralgias or arthritis and predominantly neutrophilic leucocytosis. We report on a 16-year-old woman with Still's disease who developed, in addition to the typical rash, persistent papular lesions on her face, neck and upper and lower back. Although the presence of fixed skin lesions is not a characteristic feature of AOSD, their appearance at the onset of the disease and their evolution suggest that they represent a specific manifestation of the disease.

Adolescent↗
PubMed1998

[Therapy of acne vulgaris].

Acne is an eminently curable disease. If therapeutic intervention sets in timely, scar formation can be prevented. Therapeutic modalities include the topical agents that should always be combined, and systemic agents, of which Isotretionoin is of particular importance. Isotretinoin is the only agent that can induce a complete clearing of acne lesions in 60 to 80% of cases. Adjuvant therapies, such as local injections, incisions, and peelings, are valuable tools in everyday practice and may accelerate the clearing of acne lesions. The treatment of acne is a long term endeavour that needs to be individually tuned to each patients' needs.

Acne Vulgaris↗
PubMed1997

Evidence for UV-associated activation of telomerase in human skin.

Telomerase activation plays a crucial role in the immortalization of human cells and carcinogenesis; however, the temporal and pathophysiological aspects of the activation in vivo are poorly understood. We found telomerase activity not only in malignant tumors (91%) but also in most benign (60%) and premalignant (89%) skin tumors. This suggests the involvement of telomerase activation in a crucial biological step of human skin carcinogenesis. Because UV light is a major factor in skin carcinogenesis, we further examined telomerase activity in normal skin samples and in normal skin samples adjacent to benign, premalignant, and malignant skin lesions. Data for chronically sun-exposed body sites were compared with those for covered sites. Among normal skin samples, 39% (26 of 67) had telomerase activity, and this activity was unrelated to neighboring lesions but strongly associated with the level of sun exposure. Fifty-four % (21 of 39) of normal skin samples from chronically sun-exposed sites were telomerase-positive, compared with only 12% (3 of 26) of samples from covered sites. When we examined telomerase activity and CC to TT mutations at codons 247/8 of the p53 gene (which are considered to be UV specific) in the same normal skin samples, only 43% (7 of 16) of telomerase-positive normal skin samples at sun-exposed sites contained the p53 mutations, whereas all (7 of 7) of the samples with UV-specific p53 mutations showed telomerase activity (P = 0.019). These data suggest that telomerase activation is involved at an early stage of human skin carcinogenesis and that activation may precede the acquisition of UV-associated p53 mutations in the skin. Telomerase activity was also found in plucked hair follicles and enzymatically separated epidermis, which may be associated with the presence of stem cells in the skin.

Enzyme Activation↗
PubMed1997

[Telomerase].

Telomerase is an enzyme that elongates telomeric repeats, the specialized structures at the ends of chromosomes that provide genomic stability and compensate for the physiologic process of telomere shortening. It has been implicated in cellular senescence, immortalization, and carcinogenesis. Over 85% of human tumours, and 95% of nonmelanocytic skin cancers, show telomerase activity, in contrast to the corresponding normal tissues. This suggests that telomerase activity may play an important role in carcinogenesis. Recent evidence shows that telomerase is active not only in embryonal and germ line tissues, but also in some normal tissues. In the skin, this activity has been traced to the stem-cell-bearing epidermal basal cell layer, possibly reflecting the presence of telomerase-competent stem cells. These findings require a reconsideration of our interpretation of telomerase activity in tumours of the skin and other tissues. As a causal relationship linking telomerase activity and cancer has yet not been demonstrated, some caution is warranted.

Cell Transformation, Neoplastic↗
PubMed1997

Primary digital clubbing associated with palmoplantar keratoderma.

The association of hereditary palmoplantar keratoderma and idiopathic clubbing of the digits in the same patient is uncommon. The differential diagnosis includes the Bureau-Barrière-Thomas syndrome, primary pachydermoperiostosis, Fischer's and Volavsek's syndromes, and palmoplantar keratoderma Vörner. A 30-year-old woman with palmoplantar keratoderma and clubbing of the fingers since the age of 13 years is presented.

Adult↗
PubMed1997

Eosinophilic myositis with eosinophilic cellulitislike skin lesions. Association with increased serum levels of eosinophil cationic protein and interleukin-5.

BACKGROUND: Peripheral and tissue eosinophilia are associated with a group of idiopathic inflammatory syndromes. The idiopathic hypereosinophilic syndrome represents a spectrum of disorders characterized by prolonged eosinophilia of an undetectable cause and significant organ dysfunction. The pathogenic role of the eosinophil in these conditions is attested to by evidence of eosinophil activation and degranulation at sites of tissue injury. Recently, an overlapping range of idiopathic eosinophilic muscle disease with an overall good prognosis has been described. RESULTS: We describe a patient with a syndrome of idiopathic myositis with eosinophilia and eosinophilic cellulitislike cutaneous manifestations. Histopathological studies of the skin and muscle revealed eosinophilic infiltration. Elevated serum levels of eosinophilic cationic protein and interleukin-5 paralleling disease activity were detected. CONCLUSIONS: This patient demonstrates clinical and laboratory features of eosinophilic myositis with eosinophilic cellulitislike skin lesions. The elevated serum levels of interleukin-5 and eosinophilic cationic protein may be responsible for the eosinophilia and tissue injury, respectively. With the advances in our understanding of cytokine-dependent regulatory mechanisms governing the eosinophil reaction, more targeted ways of manipulating eosinophilia as well as the entry and activation of eosinophils within specific tissues can be expected.

Adult↗
PubMed1996

[Amalgam allergy and amalgam controversy].

Safety concerns regarding dental amalgam have been voiced ever since its introduction 150 years ago. As most people have amalgam fillings, the issue has received extensive coverage in the lay as well as the medical medical media. This has led to confusion about the terms amalgam allergy, mercury burden and intoxication, and amalgam disease, an understanding of which is crucial in consideration of this controversy. Allergy to amalgam is rare and should be investigated by a specialist, as diagnosis may result in a decision to remove dental amalgam. Dental amalgam is the most important source of mercury burden in the general population. Occupational exposure to mercury within established exposure limits reaches levels much higher without evidence of intoxication. However, mercury released from dental amalgam induces measurable organ effects. Amalgam disease has been introduced as a term to identify patients who typically ascribe a variety of symptoms to their amalgam fillings. Current literature lacks sound evidence of a role for amalgam in human disease other than allergy.

Body Burden↗
PubMed1996

HPV-11- and HPV-16-associated oral verrucous carcinoma.

BACKGROUND: Verrucous carcinoma is a slowly growing, well-differentiated neoplasm with a predilection for the oral cavity. OBJECTIVE: Data on the association of human papillomavirus (HPV) with oral verrucous carcinoma are very scarce. We searched for the presence of HPV in different stages of the tumour in a patient repeatedly treated by means of surgery, cryotherapy, radiotherapy and chemotherapy over a decade. METHODS: HPV DNA was detected in archival tumour tissue by nested PCR. HPV types were identified based on restriction fragment analysis. RESULTS: HPV type 11 was found in 1 early-stage and HPV 16 in 2 late-stage biopsy specimens of the tumour. CONCLUSION: Our findings provide further evidence for a role of HPV in oral verrucous carcinoma. The case history emphasizes the importance of a joint clinicopathological approach to this tumour.

Aged↗
PubMed1996

Infertility as the first symptom of male genitourinary tuberculosis.

The diagnosis of male genitourinary tuberculosis is seldom apparent until the disease is far advanced. The earliest clinical symptoms in most cases are epididymitis, dysuria, and hematuria. In the present case, evaluation of a 26-year-old male complaining about primary infertility revealed leukocytospermia and a normal sperm count. The diagnosis of genitourinary tuberculosis was based on positive morning urine culture. Infertility is an uncommon first sign of male genitourinary tuberculosis, but may be a clue to early diagnosis, as demonstrated in the present case.

Adult↗
PubMed1995

Association of Wilms' tumor with primary brain tumor in siblings.

The cases of two young male siblings independently developing unilateral Wilms' tumors and brain tumors are reported. The renal tumors were resected; the first child was treated with chemotherapy and the second child was given additional radiotherapy. Five years after treatment, both children developed a second primary neuroectodermal tumor. All four tumors showed a high proliferative activity, and rapidly progressing disease led to the death of the first child. Histopathological and molecular studies were carried out on all four neoplasms. No functionally relevant mutation was found in selected exons of the p53, K-ras and WT1 gene loci of tumor and germ line DNA. Since additional family members had developed brain tumors and carcinomas, this peculiar association of neoplasms may be due to germ line mutation of a hitherto unidentified oncogene acting in a recessive or weakly dominant fashion.

Base Sequence↗
PubMed1995

Familial brain tumour syndrome associated with a p53 germline deletion of codon 236.

This report describes clinical, neuropathological and molecular genetic findings in a Swiss family with four brain tumours in only two generations. The neoplasms observed covered a wide range of biologic behaviour, from a slowly growing lesion already apparent at birth, to anaplastic astrocytoma in a young adult and glioblastomas at the age of less than 10 years. The only non-neural neoplasms in this family were a case of leukemia and an adrenocortical carcinoma. A germline deletion of codon 236 of the p53 tumour suppressor gene was identified as an underlying cause and detected in all affected family members. This mutation has not previously been reported as germline transmission or in sporadic tumours. The unusual accumulation of CNS tumours may be due to a certain organ-specific effect of this particular p53 mutation or it may reflect the specific genetic back-ground of this family.

Adult↗
PubMed1994

[The tumor suppressor gene p53 and its significance for dermatology].

The product of the p53 tumour suppressor gene is a sequence-specific DNA-binding protein that acts as a transcription factor and can inhibit transformation in vitro. Mutational inactivation of p53 is the most frequent genetic alteration found in human cancer. Point mutations of the p53 gene have been detected in about 50% of squamous cell carcinomas, basaliomas and cases of Bowen's disease. A significant portion of these mutations were CC-->TT or C-->T transitions suggestive of UV involvement in mutagenesis. Increased concentrations of p53 protein were immunohistochemically detected in cutaneous malignant melanomas, but p53 mutations are rare in this tumour.

Bowen's Disease↗
PubMed1994

Absence of p53 gene mutations in cutaneous melanoma.

Mutations in the p53 tumor suppressor gene are a common finding in many human malignancies. These mutations have been shown to inactivate the p53 protein and sometimes confer an oncogenic potential to the mutated gene. Type and pattern of p53 mutations may give clues to the tumor etiology, for example, ultraviolet-induced CC-->TT and C-->T transitions. Genomic DNA of 16 primary cutaneous melanomas of the superficial and nodular subtype and six melanoma metastases were screened for the presence of mutations in exons 5 to 8 of the p53 tumor suppressor gene, using the polymerase chain reaction and single-strand conformation polymorphism analysis, followed by direct DNA sequencing. We detected no mutations in any of the primary and metastatic melanomas in exons 5 to 8 of the p53 tumor suppressor gene. This indicates that, in contrast to skin carcinomas, p53 mutations are not operative in the evolution of human melanoma.

Base Sequence↗
PubMed1994

Genetic alterations associated with glioma progression.

Among tumours of the nervous system, mutations of the p53 tumour suppressor gene are largely restricted to neoplasms of astrocytic origin. These are the most common human brain tumours and span a wide range of biologic behavior, from the slowly growing low-grade astrocytoma (WHO Grade II) to anaplastic astrocytoma (WHO Grade III) and, ultimately, the glioblastoma multiforme (WHO Grade IV). In low grade astrocytomas, p53 mutations with or without loss of heterozygosity on chromosome 17p are the principle detectable change. Anaplastic astrocytomas contain p53 mutations in approximately one third of cases and further display loss of heterozygosity on chromosome 19q and homozygous loss of 9p21, tentatively identified as multiple tumour suppressor 1 (MTS-1). In addition to these genetic alterations, glioblastomas show loss of chromosome 10 and amplification of the EGF receptor gene at an incidence of > 60% and > 40%, respectively. The type and distribution of p53 mutations are not suggestive of specific environmental carcinogens operative in their etiology.

Astrocytoma↗