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T Ruzicka

Publications and source records attributed to T Ruzicka.

At least 91 records · Page 5Linked to original sources
PubMed2003

[Management of dermatologic industrial accidents. Skin burns by bitumen as an example].

Hot bitumen burns, although rare, usually occur in workers in the paving or roofing industries. When bitumen is heated to high temperatures it can cause deep burns, and its incorrect removal often causes further skin damage. Application of butter has been proven to be very effective to remove bitumen from the skin. Further clinical and legal safety guidelines for occupational injuries are described.

Accidents, Occupational↗
PubMed2003

[Clinical course and therapy of Langerhans cell histiocytosis in children and adults].

The Langerhans cell histiocytosis is a rare disease with a clear preference of infancy and an incidence of 0.2 to 1.0/100,000 children occurring worldwide. In 60 to 70% of the cases the first manifestation is before the second year of age. The disease prefers the male sex in a male to female relation of 2:1. Occurrence in adult age is very rare. Up to 10% of the cases are congenital. Both the etiology and the pathogenesis of the disease are unknown. The clinical presentation is extremely variable and covers a wide spectrum from localized involvement with a favorable prognosis to disseminated, malignant and foudroyant course. We report on ten patients, six infants and children and four adolescents and adults. We point out the very variable morphologic manifestations, the different disease course and the therapeutic options.

Adult↗
PubMed2003

Cowden's disease: clinical and molecular genetic findings in a patient with a novel PTEN germline mutation.

We report a 54-year-old woman with Cowden's disease (CD) who was found to carry a novel germline mutation in the PTEN gene. The mutation (c.334C-->G) introduced a splice donor site within exon 5 that caused the expression of an aberrant transcript lacking 159 nucleotides corresponding to codons 112-164. Clinically, the patient showed multiple benign hamartomatous lesions of the skin, papillomatosis of the lips and oral mucosa, polyposis coli and bilateral fibrocystic disease of the breast. In addition, she developed different types of malignant neoplasms, including bilateral carcinomas of the breast and malignant melanomas of the skin. Molecular genetic analysis of a benign skin hamartoma and an invasive ductal breast carcinoma revealed loss of heterozygosity (LOH) at microsatellite markers on chromosome 10 in the carcinoma but not in the hamartoma. The breast carcinoma additionally carried a somatic TP53 point mutation (c.466C-->G; R156G) that was associated with LOH on 17p and nuclear p53 protein accumulation. Taken together, our findings indicate that benign hamartomas in CD may develop without loss of the second (wild-type) PTEN allele, whereas the pathogenesis of malignant tumours, such as breast carcinomas, appears to require the complete inactivation of Pten as well as further alterations such as the loss of p53-dependent growth control.

Breast Neoplasms↗
PubMed2003

Anti-inflammatory and varicocele treatment in nonobstructive azoospermia.

A 34-year-old male patient with nonobstructive azoospermia and childlessness for more than 2 years is presented. As even severely damaged testes often harbour cryptic areas with remaining spermatogenesis, such cases might be suitable for spermatid extraction from bilateral testicular biopsies. Taking into account that testicular biopsies bear the risk of permanent testosterone insufficiency, less invasive andrological treatment modalities were considered. Under the assumption of frequent silent testicular inflammatory reactions, the nonsteroidal anti-inflammatory drug ibuprofen was administered. Additionally, a concomitant left-sided varicocele was removed by retrograde sclerotherapy. Within 1 year, the spermiogram showed spermatozoa at a concentration of 0.6-1.2 million ml(-1). This allowed ejaculate samples to be stored for cryopreservation to enable in vitro fertilization with intracytoplasmic injection of spermatozoa. Our successfully performed anti-inflammatory and varicocele treatment underlines the value of conservative andrological therapies. Despite the modern possibilities of assisted reproductive procedures the clinical andrologist should be aware of a careful andrological examination and of less invasive therapeutic options such as anti-inflammatory treatment and varicocele repair.

Adult↗
PubMed2003

Cytochrome p450A1 polymorphisms in a Caucasian population with porphyria cutanea tarda.

Porphyria cutanea tarda (PCT) is the most frequent porphyria in humans. The familial type is in contrast to the sporadic type due to an inherited defect of the uroporphyrinogen-II-decarboxylase (URO-D) and both types need additional porphyrinogens to lead to the clinical manifestation of the disease. Various factors such as xenobiotics (i.e. polycyclic aromatic hydrocarbons), alcohol, hormones and viral liver infections (hepatitis B and C) are known to induce porphyria. Cytochrome p450 enzymes play a crucial role in the metabolism of porphyrogens and therefore might have an important influence on the pathogenesis of hepatic porphyrias. Association of CYP1A2 polymorphisms with susceptibility to both types of PCT has already been described in Danish patients. We investigated 65 caucasian patients with PCT in comparison to a healthy control group concerning the tpe of PCT and the cytochrome p4501A1 polymorphisms (m1, m2 and m4) using polymerase chain reaction (PCR) and a restriction fragment length polymorphism. We found an increased incidence of the m4 polymorphism in the familial type of PCT (odds ratio 5.5, P-value 0.01), whereas the m1 and m2 mutations, might be provoked by a higher susceptibility to porphyrogens via the cytochrome p4501A1 m4 polymorphism.

Alleles↗
PubMed2002

Successful treatment of solar urticaria by extracorporeal photochemotherapy (photopheresis)--a case report.

UNLABELLED: Solar urticaria is characterized by erythema and whealing immediately after exposure to ultraviolet radiation and/or visible light. We report about a patient with severe solar urticaria, who was highly sensitive to both UVA radiation and visible light with a Minimal Urticaria Dose (MUD) of 7 J/cm2 UVA. Management of this patient was extremely difficult because standard treatment with oral antihistamines, hardening with UVA, UVB, visible light or oral PUVA and even oral cyclosporin A were completely ineffective. We therefore decided to perform extracorporeal photochemotherapy (photopheresis, ECP). After nine treatment cycles with photopheresis the MUD increased from 7 J/cm2 UVA before treatment to 22 J/cm2 UVA. This hardening effect was associated with a significant decrease of the frequency and severity of whealing and the accompanying symptoms (pain, fatigue, pruritus). CONCLUSION: Photopheresis might be of some benefit in selected patients with otherwise intractable solar urticaria.

Humans↗
PubMed2002

Upregulation of epidermal surface molecule expression in primary and ultraviolet-induced lesions of lupus erythematosus tumidus.

BACKGROUND: Lupus erythematosus tumidus (LET), a photosensitive skin disorder with characteristic clinical and histological features, has not been generally accepted as a subset of cutaneous lupus erythematosus (CLE). OBJECTIVES: To analyse the expression of epidermal surface molecules in skin biopsy specimens from patients with LET and to relate the results to other variants of CLE, such as discoid lupus erythematosus (DLE) and subacute CLE (SCLE). METHODS: In total, 45 patients with different subtypes of CLE were included in the study, and cryostat sections from primary and ultraviolet (UV) A- and UVB-induced skin lesions were investigated using immunohistochemical methods. RESULTS: In contrast to healthy controls, skin lesions of LET showed upregulation of intercellular adhesion molecule-1 (ICAM-1) and histocompatibility class II molecules (HLA-DR), with an expression pattern resembling that seen in DLE and SCLE. Furthermore, staining with a monoclonal antibody against 27E10, a distinct marker for cell activation and differentiation, revealed intense focal or band-like labelling of all epidermal layers independent of the type of lesion. CONCLUSIONS: Expression of epidermal surface molecules such as ICAM-1, HLA-DR and 27E10 is equally upregulated in primary and UV-induced lesions of patients with LET, DLE and SCLE. These results support our recent clinical findings that LET represents a distinct subset of CLE with a similar immunopathomechanism rather than a different disease.

Adult↗
PubMed2002

The hairless gene in androgenetic alopecia: results of a systematic mutation screening and a family-based association approach.

BACKGROUND: Genetic disposition and androgen dependence are important characteristics of the common patterned loss of scalp hair known as androgenetic alopecia (AGA). The genetic factors contributing to AGA are currently unknown. The human hairless gene (HR) has recently been cloned and mutations have been reported in families with autosomal recessive universal congenital alopecia and papular atrichia. The main feature of these disorders is persistent complete absence of hair at or shortly after birth. This suggests that HR is essential and specific for the development of hair. OBJECTIVES: To test the hypothesis that HR may be involved in AGA. METHODS: We systematically screened HR for genetic variability by means of single-strand conformation analysis (SSCA) in 46 unrelated men with AGA. To test for an involvement of HR in the development of AGA, seven common variants were genotyped in 61 families with 93 affected offspring. The results were analysed with the transmission/disequilibrium test (TDT). RESULTS: SSCA showed 15 single nucleotide substitutions: eight missense mutations, four silent mutations and three mutations in exon-flanking intronic sequences. TDT results showed a marginally significant association between AGA and variants 3379-29G/T (P = 0.024) and 2611-68C/T (P = 0.047). These results, however, did not remain significant after applying the conservative Bonferroni correction for multiple testing. CONCLUSIONS: Our results do not provide evidence for a strong involvement of HR in the development of AGA, although a minor role cannot be fully excluded.

Adult↗
PubMed2002

Imiquimod 5% cream for the treatment of superficial and nodular basal cell carcinoma: randomized studies comparing low-frequency dosing with and without occlusion.

BACKGROUND: Imiquimod 5% cream has been investigated for non-surgical treatment of superficial and nodular basal cell carcinoma (BCC) tumours. OBJECTIVES: Two studies were conducted to examine the effect of occlusion at low dosing frequencies on the safety and efficacy of topical imiquimod 5% cream for the treatment of superficial and nodular BCC. PATIENTS AND METHODS: Both open-label studies were conducted in Europe. Patients diagnosed with BCC were enrolled into either the superficial (93 patients) or nodular (90 patients) study, depending on the histological confirmation of the patient's tumour subtype. Patients were randomized to one of four groups to apply imiquimod 5% cream 2 or 3 days per week either with or without occlusion. Six weeks following a 6-week treatment period, the entire target tumour area was excised and histologically examined for evidence of residual tumour. RESULTS: In both studies, the highest histologically complete response rate was seen in the 3 days per week with occlusion groups, with complete response rates of 87% and 65% for the superficial and nodular studies, respectively. Occlusion did not have a statistically significant effect on response rate at either dosing frequency. Response rates for superficial and nodular BCC tumours treated 3 days per week without occlusion were 76% and 50%, respectively. CONCLUSIONS: In the superficial study, the complete response rate of 87% in the 3 days per week with occlusion group was similar to that of daily and 5 days per week dosing without occlusion in a previous 12-week study and one study of daily dosing without occlusion for 6 weeks. All treatment groups had acceptable safety profiles in both studies. Occlusion did not have a statistically significant effect on efficacy for either superficial or nodular BCC tumours.

Administration, Cutaneous↗
PubMed2002

Type 1 segmental cutaneous leiomyomatosis.

Cutaneous leiomyomas are rare benign tumours of the skin, which present in multiple disseminated, segmental or solitary forms. The pathogenesis of segmental cutaneous leiomyomatosis is not yet fully known. Most recently two types of segmental manifestation of autosomal dominant inherited diseases were postulated. Type 1 reflects heterozygosity for the underlying mutation with a clinical picture similar to that in a non-mosaic phenotype. In type 2, loss of heterozygosity leads to homo- or hemizygosity with a pronounced segmental manifestation of lesions in the affected segment. In our patient the lesions were restricted to one segment and therefore she most probably has a type 1 segmental cutaneous leiomyomatosis.

Adult↗
PubMed2002

Supravenous hyperpigmentation, transverse leuconychia and transverse melanonychia after chemotherapy for Hodgkin's disease.

Pigmentary abberations of the skin, mucosa and epidermal appendages are common side-effects after systemic treatment with chemotherapeutic agents. These pigment changes appear in different patterns and are partly quite typical for the applied chemotherapeutic drug. The pathogenesis of the different skin pigmentations are not well known. The most often discussed causes are the stimulation of melanocytes, involvement of the tyrosinase enzyme system and thrombophlebitis with postinflammatory hyperpigmentation by the aggressive substances. Nail discolorations are mainly due to direct toxic effects and stimulation of the matrix melanocytes. We report a rare event of supravenous hyperpigmentation, transverse leuconychia and melanonychia after chemotherapy of a patient suffering from Hodgkin's disease.

Adolescent↗