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ABSTRACT: Uveal melanomas represent 3.1% of all melanomas with a high potential of metastatic disease of up to 50% which shows a median survival time of 6 months. Though liver metastases dominate as primary site for metastasis, the existence of primary skin metastases is still under discussion but has been reported in a few reports. We present two cases in which patients with known history of uveal melanoma develop melanoma skin metastases. To clarify their origin (uvea or skin) mutational analysis was performed and revealed GNA11 mutations which are typical for uveal melanoma. Followingly, these cases strongly suggest the existence of the skin as primary site of uveal melanoma. Furthermore, knowledge about the mutational status opens the opportunity for future targeted therapies that directly interact with the mutation and its activated signal cascades. E.g. first trials in uveal melanoma have shown promising results with MEK inhibitors.
British Journal of Dermatology 03/2013; · 3.67 Impact Factor
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ABSTRACT: The introduction of quality management systems might be promoted by use of recognised certification programmes. Over the years, in health care organisations the certification model named KTQ has gained more and more importance. The aim of this study is to evaluate intra-organisational effects in a clinic after introduction of quality management on the basis of KTQ.The evaluation was performed using a 2-step approach: first, before starting the implementation process of KTQ in the year 2008, and second, after the implementation process had become successful. Data were obtained by a systematic questionnaire survey. Hospital staff (physicians, nurses, and others like administration staff, technical and medical assistants) were asked to appraise the quality management, to give own preferences, and rate their overall satisfaction with the process.Response rates were 56% in the year 2008 and 50% in the year 2010. Subjects regarding the working atmosphere, leading of superiors, organisational issues, and pervasion of quality management predominantly were found to be improved, almost with high statistical significance. At the same time, higher satisfaction values could be determinedThere might be high acceptance to the undergone changes from the staff members' point of view. It appears that the implementation process has led to higher satisfaction values. Moreover it can be concluded that certification programmes might be able to promote the needed pervasion of quality management throughout the institution.
Das Gesundheitswesen 11/2012; · 0.94 Impact Factor
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ABSTRACT: Hintergrund und Fragestellung. Die zyklische Neutropenie ist eine seltene kongenitale, autosomal dominant oder sporadisch auftretende hämatologische Erkrankung.
Kürzlich konnten als zugrundeliegender Gendefekt sowohl für die autosomal dominante als auch für die sporadische Form der
zyklischen Neutropenie Mutationen im ELA2-Gen identifiziert werden.
Patienten/Methodik. Anhand eines Fallberichtes werden das Krankheitsbild der zyklischen Neutropenie, die Diagnosekriterien, die neuen molekularbiologischen
Erkenntnisse und derzeitigen Behandlungsempfehlungen aufgezeigt.
Ergebnisse. Regelmäßige Blutentnahmen konnten 21-tägige periodische Oszillationen der peripheren neutrophilen Granulozyten aufdecken,
wobei die Zahl der neutrophilen Granulozyten zwischen fast normalen und extrem niedrigen Werten schwankte. Der Nadir der neutrophilen
Granulozyten hielt jeweils 3–5 Tage an, parallel traten Fieber, Abgeschlagenheit, aphthöse Mundschleimhautulzerationen und
zervikale Lymphknotenschwellungen auf. Eine Mutationsanalyse genomischer DNA zeigte eine Punktmutation im Intron 4 des ELA2-Gens. Unter einer Therapie mit rekombinantem humanen Granulozytenkolonien stimulierendem Faktor ist die Patientin seit über
2 Jahren beschwerdefrei.
Schlussfolgerungen. Die Diagnose zyklische Neutropenie wurde trotz typischer Anamnese und Manifestation der Erkrankung in den ersten Lebensmonaten
erst im Alter von 9 Jahren gestellt. Eine häufige Ursache der verzögerten Diagnosestellung ist neben der Unkenntnis des seltenen
Krankheitsbildes die versäumte Differenzierung des Blutbildes im akuten Schub der Erkrankung. Alle Patienten mit zyklischer
Neutropenie sollten im internationalen Register für schwere chronische Neutropenien erfasst werden.
Background and Objective. Cyclic neutropenia is a rare congenital hematopoietic disease which occurs sporadically or as an autosomal dominantly inherited
disorder. Recently, the locus for cyclic neutropenia was mapped to chromosome 19p13.3. Autosomal dominant and sporadic cyclic
neutropenia are now attributable to mutations of the ELA2 gene encoding neutrophil elastase.
Patients/Methods. Based on a case report we review the clinical picture and diagnostic criteria of cyclic neutropenia and report about the
recent molecular biological findings and current treatment options.
Results. Serial blood cell counts revealed the characteristic oscillations of the circulating neutrophils with 21-day periodicity
from near normal to extremely low levels. The neutrophil nadir lasted 3–5 days. The neutropenia was associated with fever,
malaise, painful oral aphthous ulcers and lymphadenopathy. Mutational analysis of the patient's genomic DNA revealed a single
base-pair transition (nt 4716, G→A) in intron 4 of ELA2. Since the initiation of therapy with subcutaneous recombinant human granulocyte-stimulating colony factor (rHuG-CSF) 24
months ago, the patient has been free of symptoms.
Conclusions. Despite the typical medical history with onset of the symptoms in early infancy the diagnosis of cyclic neutropenia was not
established until the age of 9 years. A common reason for the delayed diagnosis of cyclic neutropenia may be unawareness of
the rare but distinctive disorder and the practice of obtaining screening blood counts without leukocyte differentials. Patients
with cyclic neutropenia should be enrolled to the Severe Chronic Neutropenia International Registry (SCNIR).
Der Hautarzt 04/2012; 52(9):790-796. · 0.58 Impact Factor
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ABSTRACT: The aim of this study was to evaluate the safety and efficacy profile of pegylated interferon α-2b (PEG-IFN α-2b) in combination with photochemotherapy (PUVA) in the treatment of cutaneous T-cell lymphoma (CTCL) in comparison with standard IFN α plus PUVA.
Retrospective cohort study over a period of 7 years.
A total of 17 consecutive CTCL patients (stage IA-IV) were retrospectively analysed for toxicity and response rates associated with PEG-IFN α-2b (1.5 μg/kg weekly) plus PUVA (n = 9) or standard IFN α-2a (9 MIU 3×/week) plus PUVA (n = 8).
Differences of response rates (complete/partial remission), progression-free survival, discontinuation of therapy, safety and toxicity profiles according to World Health Organization - Common Terminology Criteria of Adverse Events (WHO-CTCAE).
Myelosuppression and liver toxicity occured more frequently during PEG-IFN α-2b plus PUVA treatment than during standard IFN α-2a plus PUVA therapy [77.8 vs. 50% (odds ratio 1.477) and 77.8 vs. 50% (odds ratio 1.692), respectively]. By contrast, the occurence of constitutional side-effects (mainly fatigue) [100 vs.77.8% (odds ratio 0.889)] and more adverse events leading to study discontinuation was considerably higher in the standard IFN α-2a plus PUVA group. The overall response rate in the PEG-IFN α-2b plus PUVA group (89%) was significantly superior.
In patients with cutaneous T-cell lymphoma PEG-IFN α-2b plus PUVA might become a promising treatment alternative as its higher rate of myelosuppression and liver toxicity is outweighed by its lower percentage of constitutional side-effects, and its significantly higher overall response. Due to the small number of participants at this retrospective study, a larger prospective study is essential to verify our results.
Journal of the European Academy of Dermatology and Venereology 01/2012; 26(1):71-8. · 2.98 Impact Factor
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A Kuhn,
A M Meuth,
D Bein,
S Amler,
S Beissert,
M Böhm,
R Brehler,
J Ehrchen,
S Grundmann,
M Haust,
V Ruland, M Schiller,
P Schulz,
S Ständer,
C Sauerland,
W Köpcke,
T A Luger,
G Bonsmann
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ABSTRACT: In 2005, a scoring system (CLASI, Cutaneous Lupus Erythematosus Disease Area and Severity Index) was developed for patients with cutaneous lupus erythematosus (CLE) to assess disease 'activity' and 'damage'. However, the CLASI does not give an accurate assessment of the severity in all disease subtypes.
The main objective of this study was to analyse critically the included parameters of the CLASI and to revise the activity and damage score taking into account various clinical features of the different subtypes of CLE. The revised CLASI (RCLASI) was also validated for use in clinical trials. Patients and methods A RCLASI was designed with regard to the anatomical region (i.e. face, chest, arms) and morphological aspects (i.e. erythema, scaling/hyperkeratosis, oedema/infiltration, scarring/atrophy) of skin lesions and evaluated by nine dermatologists who scored 12 patients with different subtypes of CLE to estimate inter- and intrarater reliability.
Reliability studies demonstrated an intraclass correlation coefficient (ICC) for an inter-rater reliability of 0.89 for the activity score [95% confidence interval (CI) 0.79-0.96] and of 0.79 for the damage score (95% CI 0.62-0.92). The ICC for intrarater reliability for the activity score was 0.92 (95% CI 0.89-0.95) and the ICC for the damage score was 0.95 (95% CI 0.92-0.98).
In the present study, a RCLASI was developed by experts, and reliability studies supported the validity and applicability of the revised scoring instrument for CLE. Thus, the RCLASI is a valuable instrument in multicentre studies and for the clinical evaluation of activity and damage in different disease subtypes.
British Journal of Dermatology 07/2010; 163(1):83-92. · 3.67 Impact Factor
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ABSTRACT: This survey aims to identify psychosocial issues in the outpatient care of acne vulgaris in dermatological and paediatric practices. The main object of the study lies on the impact of psychosocial stresses and strains, and offers of support in medical care.
Questionnaires were sent out to all dermatologists and paediatricians in private practice in Westphalia-Lippe (n=678) using a combined quantitative and qualitative approach. The average response rate was 41.0% (n=278), for paediatrics 43.7% (n=190) and dermatology 36.3% (n=88), respectively. Methods of descriptive statistics were applied. Qualitative data were analysed using a qualitative content analysis.
From the physicians' point of view several needs of psychosocial care are seen, however, predominantly focussing on psychotherapeutic and inpatient medical care. Correspondingly, patients' demands for psychosocial care were also indicated. The responding physicians were not aware of low threshold offers of support such as self-help, support and advocacy organisations, social services or help-desks. These offers do not play an important role in outpatient care. Altogether only a minor group of respondents cooperates with these named institutions providing psychosocial care services.
The integration of psychosocial care is not common practice in the outpatient care of acne vulgaris. On the one hand physicians are willing to cooperate with caring institutions inside and outside the health care system; on the other hand cooperation is limited by lots of structural and fiscal barriers. The mental and psychological stresses related to acne vulgaris are evident and important for social and emotional development of children and adolescents. Although this fact is actually being perceived, the implementation of psychosocial issues is medical practice remains inadequate.
Das Gesundheitswesen 05/2009; 71(7):405-13. · 0.94 Impact Factor
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ABSTRACT: The remission rate of patients with chronic urticaria (CU) due to elimination diets varies between 31% and 71%. However, the diagnostic value of subsequent traditional oral provocation tests with food additives in capsules remains unsatisfactory.
A newly incremental build-up food challenge (IBUF) for patients with CU was designed and implemented in an open pilot study. Primary endpoint was the percentage of patients developing urticaria during at least one step of IBUF after an initial complete remission due to a pseudoallergen-free elimination diet.
In total, 153 patients with CU were submitted for 5 weeks to a pseudoallergen-free diet. All patients with remission were included to the 6-week IBUF protocol, containing pseudoallergen-rich foods in a systematic and additive manner. The recurrence and severity of CU was evaluated by urticaria score. Subjective disturbance and quality of life were evaluated by patients' diary, visual analogue scale and quality of life questionnaire (CU-Q2oL). Subsequently, patients were followed up for 3-24 months after IBUF by a telephone interview.
A total of 104 patients completed the pseudoallergen-free diet, whereby 51% reported partial, 17% complete and 32% no remission due to the diet. All diet responders showed a decrease in subjective impairment, urticaria and quality of life score (P<0.001 each). Eighty-six percent (12/14) of the patients reaching complete remission, showed a recurrence of urticaria symptoms during the IBUF protocol. Fifty-eight percent (7/12) of these patients still remained free of symptoms due to avoidance of IBUF-identified foods at telephone follow-up. In patients with partial remission to pseudoallergen-free diet, however, IBUF did not provide information about the cause of urticaria symptoms.
The newly developed IBUF protocol seemed to be a promising method for identifying individually incompatible foods in some CU patients. IBUF should be verified by randomized controlled trials to gain additional evidence for its diagnostic value.
Clinical & Experimental Allergy 02/2009; 39(1):116-26. · 5.03 Impact Factor
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ABSTRACT: Summary Background The remission rate of patients with chronic urticaria (CU) due to elimination diets varies between 31% and 71%. However, the diagnostic value of subsequent traditional oral provocation tests with food additives in capsules remains unsatisfactory. Objectives A newly incremental build-up food challenge (IBUF) for patients with CU was designed and implemented in an open pilot study. Primary endpoint was the percentage of patients developing urticaria during at least one step of IBUF after an initial complete remission due to a pseudoallergen-free elimination diet. Methods In total, 153 patients with CU were submitted for 5 weeks to a pseudoallergen-free diet. All patients with remission were included to the 6-week IBUF protocol, containing pseudoallergen-rich foods in a systematic and additive manner. The recurrence and severity of CU was evaluated by urticaria score. Subjective disturbance and quality of life were evaluated by patients' diary, visual analogue scale and quality of life questionnaire (CU-Q(2)oL). Subsequently, patients were followed up for 3-24 months after IBUF by a telephone interview. Results A total of 104 patients completed the pseudoallergen-free diet, whereby 51% reported partial, 17% complete and 32% no remission due to the diet. All diet responders showed a decrease in subjective impairment, urticaria and quality of life score (P<0.001 each). Eighty-six percent (12/14) of the patients reaching complete remission, showed a recurrence of urticaria symptoms during the IBUF protocol. Fifty-eight percent (7/12) of these patients still remained free of symptoms due to avoidance of IBUF-identified foods at telephone follow-up. In patients with partial remission to pseudoallergen-free diet, however, IBUF did not provide information about the cause of urticaria symptoms. Conclusions The newly developed IBUF protocol seemed to be a promising method for identifying individually incompatible foods in some CU patients. IBUF should be verified by randomized controlled trials to gain additional evidence for its diagnostic value.
Clinical & Experimental Allergy 11/2008; · 5.03 Impact Factor
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ABSTRACT: In the last years the neuropeptide a-melanocyte-stimulating hormone has emerged as a regulator of various biological processes far beyond the initially described pigment-inducing action. Expression of melanocortin-receptors (MC-Rs), mainly MC-1R, has been identified in several non-pigmentary human skin cell types. Moreover, expression of MC-5R has been detected in sebocytes and skin mast cells while MC-4R has been reported in dermal papilla cells, a specialized myofibroblast cell type regulating hair follicle activity. In accordance with early observations in the rat preputial gland alpha-melanocyte-stimulating and related peptides have lipogenic activity in the human system. The immunomodulatory actions of alpha-melanocyte-stimulating include regulation of expression and secretion of chemokines, downregulation of proinflammatory signal-induced NF-kappaB activation and adhesion molecule expression, prostaglandin E2 synthesis, as well as induction of interleukin-10. Depending on the cell type studied and the experimental conditions alpha-melanocyte-stimulating however may also have weak proinflammatory actions. In dermal fibroblasts alpha-melanocyte-stimulating was further reported to modulate collagen metabolism via upregulating interstitial collagenase as well as by attenuating the inductive effect of transforming growth factor B on 1 collagen synthesis and fibrosis, the latter pointing towards a potential role of a-melanocyte-stimulating during chronic inflammatory skin responses. The immunomudulatory effects, the established melanotropic action and the recently identified cytoprotective activity of a-melanocyte-stimulating on UVB-induced apoptosis and DNA damage may be part of the body's host defence in which this neuropeptide--typically induced by proinflammatory signals--maintains tissue homeostasis and prevents genotoxicity during inflammatory responses.
Cellular and molecular biology (Noisy-le-Grand, France) 02/2006; 52(2):61-8. · 1.46 Impact Factor
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ABSTRACT: In the last few years it has become apparent that the skin is a locoregional source for several proopiomelanocortin-derived peptides including alpha-melanocyte-stimulating hormone, adrenocorticotropin, and beta-endorphin. The enzymes that regulate expression of these neuropeptides are the prohormone convertases 1 and 2. In this study we demonstrate, by reverse transcriptase polymerase chain reaction and Western immunoblotting, that cultured human dermal fibroblasts express prohormone convertases 1 and 2 as well as 7B2, which is an essential cofactor for enzymatic activity of prohormone convertase 2. Immunofluorescence studies revealed prohormone convertase 1 to be mainly expressed in the perinuclear region in vesicular structures resembling the trans-Golgi network, whereas prohormone convertase 2 was found in the trans-Golgi network as well as in vesicular structures diffusely distributed in the peripheral cytoplasm. Expression of both enzymes was also confirmed in fibroblasts of normal adult human skin by immunohistochemistry using antibodies against prohormone convertases 1 and 2 and vimentin. To assess the relevance of prohormone convertase 1 and 2 expression in human dermal fibroblasts, we studied the expression of proopiomelanocortin and proopiomelanocortin-derived peptides. Proopiomelanocortin expression was detected by reverse transcriptase polymerase chain reaction and Western immunoblotting. Alpha-melanocyte-stimulating hormone, adrenocorticotropin, and beta-endorphin were mainly located in vesicular structures as demonstrated by immunofluorescence. Production of these peptides was confirmed by radioimmunoassay, immunoradiometric assay, or enzyme immunoassay. Among several stimuli tested, interleukin-1 was found to upregulate production of alpha-melanocyte-stimulating hormone in human dermal fibroblasts. In summary, we have shown that human dermal fibroblasts express the enzymatic machinery for proopiomelanocortin processing and make proopiomelanocortin, alpha-melanocyte-stimulating hormone, adrenocorticotropin, and beta-endorphin. Production of proopiomelanocortin peptides by human dermal fibroblasts may be relevant for fibroblast functions such as collagen degradation and/or regulation of dermal immune responses.
Journal of Investigative Dermatology 09/2001; 117(2):227-35. · 6.31 Impact Factor
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ABSTRACT: Cyclic neutropenia is a rare congenital hematopoietic disease which occurs sporadically or as an autosomal dominantly inherited disorder. Recently, the locus for cyclic neutropenia was mapped to chromosome 19p13.3. Autosomal dominant and sporadic cyclic neutropenia are now attributable to mutations of the ELA2 gene encoding neutrophil elastase.
Based on a case report we review the clinical picture and diagnostic criteria of cyclic neutropenia and report about the recent molecular biological findings and current treatment options.
Serial blood cell counts revealed the characteristic oscillations of the circulating neutrophils with 21-day periodicity from near normal to extremely low levels. The neutrophil nadir lasted 3-5 days. The neutropenia was associated with fever, malaise, painful oral aphthous ulcers and lymphadenopathy. Mutational analysis of the patient's genomic DNA revealed a single base-pair transition (nt 4716, G-->A) in intron 4 of ELA2. Since the initiation of therapy with subcutaneous recombinant human granulocyte-stimulating colony factor (rHuG-CSF) 24 months ago, the patient has been free of symptoms.
Despite the typical medical history with onset of the symptoms in early infancy the diagnosis of cyclic neutropenia was not established until the age of 9 years. A common reason for the delayed diagnosis of cyclic neutropenia may be unawareness of the rare but distinctive disorder and the practice of obtaining screening blood counts without leukocyte differentials. Patients with cyclic neutropenia should be enrolled to the Severe Chronic Neutropenia International Registry (SCNIR).
Der Hautarzt 09/2001; 52(9):790-6. · 0.58 Impact Factor
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ABSTRACT: Recently, the induction of subacute cutaneous lupus erythematosus (SCLE) and exacerbation of systemic lupus erythematosus by terbinafine have been reported.
We describe 4 cases of SCLE, one associated with chilblain lupus, which occurred during therapy with oral terbinafine for onychomycosis.
Of 21 consecutive patients with SCLE attending the outpatient dermatology department at Muenster University clinic during a 1-year period, 4 patients with terbinafine-induced SCLE were seen. Patients were examined fully and photographed; histologic findings as well as serologic and follow-up data were evaluated.
In addition to high titers of antinuclear antibodies (ANA) with a homogeneous pattern, anti-Ro(SS-A) antibodies were present; in 3 of 4 women, anti-La(SS-B) antibodies were also found. All patients had anti-histone antibodies as in drug-induced lupus and showed the characteristic genetic association of SCLE with the HLA-B8,DR3 haplotype; moreover, in 2 cases, HLA-DR2 was also present. After discontinuation of terbinafine, ANA titers decreased; anti-histone antibodies also became undetectable within 4(1/2) months in 3 patients concomitant with subsidence of the SCLE eruption in all patients.
Terbinafine is a drug that appears to infrequently induce SCLE with high titers of ANAs and anti-histone antibodies in genetically susceptible persons.
Journal of the American Academy of Dermatology 07/2001; 44(6):925-31. · 3.99 Impact Factor
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ABSTRACT: The origin of diffuse melanosis resulting from metastatic melanoma is unknown. We examined the light microscopic and ultrastructural changes in the skin of an affected 35-year-old woman and determined the peripheral blood levels of melanocyte growth factors. A total of 7 biopsy specimens were examined by light and electron microscopy and immunohistology (S-100, HMB45, MART1, CD68, MAC387). Serum/plasma levels of melanocyte growth factors of the patient were determined by enzyme-linked immunosorbent assays and compared with those of normal volunteers (n = 10) and amelanotic patients with metastatic melanoma (n = 10), matched to the UICC stage of the affected patient. Hyperpigmented but otherwise apparently normal skin of the patient displayed epidermal melanocyte hyperplasia, increased melanogenesis, and dermal pigment stored in histiocytes and other cells along with extracellular deposits. Blood levels of alpha-melanocyte stimulating hormone, hepatocyte growth factor, and endothelin-1 were significantly elevated in the affected patient. Aberrant production of these factors may not only be responsible for activation of the pigment system in diffuse melanosis of metastatic melanoma, but also for increased proliferation, motility, and pigment incontinence of normal and malignant melanocytes.
Journal of the American Academy of Dermatology 06/2001; 44(5):747-54. · 3.99 Impact Factor
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T E Scholzen,
D H Kalden,
T Brzoska,
T Fisbeck,
M Fastrich, M Schiller,
M Böhm,
T Schwarz,
C A Armstrong,
J C Ansel,
T A Luger
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ABSTRACT: Proopiomelanocortin peptides such as alpha-melanocyte-stimulating hormone and adrenocorticotropin are expressed in the epidermal and dermal compartment of the skin after noxious stimuli and are recognized as modulators of immune and inflammatory reactions. Human dermal microvascular endothelial cells mediate leukocyte-endothelial interactions during cutaneous inflammation by the expression of cellular adhesion molecules and cytokines such as interleukin-1. This study addresses the hypothesis that human dermal microvascular endothelial cells express both proopiomelanocortin and prohormone convertases, which are required to generate proopiomelanocortin peptides. Semiquantitative reverse transcriptase polymerase chain reaction and northern blot studies revealed a constitutive expression of proopiomelanocortin mRNA by human dermal microvascular endothelial cells in vitro that was time- and concentration-dependently upregulated by interleukin-1 beta. Furthermore, irradiation of human dermal microvascular endothelial cells with ultraviolet A1 (30J per cm(2)) or ultraviolet B (12.5 mJ per cm(2)) enhanced proopiomelanocortin expression as well as the production and release of the proopiomelanocortin peptides adrenocorticotropin and alpha-melanocyte-stimulating hormone. In addition to proopiomelanocortin, prohormone convertase 1 mRNA expression was detected by reverse transcriptase polymerase chain reaction in unstimulated human dermal microvascular endothelial cells and was augmented after exposure to alpha-melanocyte- stimulating hormone, interleukin-1 beta, or irradiation with ultraviolet. These findings demonstrate that human dermal microvascular endothelial cells express proopiomelanocortin and prohormone convertase 1 required for the generation of adrenocorticotropin. Additionally, human dermal microvascular endothelial cells express mRNA for the prohormone convertase 2 binding protein 7B2. Taken together these findings indicate that human dermal microvascular endothelial cells upon stimulation express both proopiomelanocortin and prohormone convertases required for the generation of alpha-melanocyte-stimulating hormone. As proopiomelanocortin peptides were found to regulate the production of human dermal microvascular endothelial cell cytokines and adhesion molecules and to have a variety of anti-inflammatory properties these peptides may significantly contribute to the modulation of skin inflammation. J Invest Dermatol 115:1021-1028 2000
Journal of Investigative Dermatology 01/2001; 115(6):1021-8. · 6.31 Impact Factor
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ABSTRACT: We have generated a polyclonal antibody raised against a synthetic peptide corresponding to the amino acids 2-18 of the extracellular, N-terminal domain of the human melanocortin-1 receptor (MC-1R). Specificity of the affinity-purified anti-MC-1R antibody was confirmed by dot blot analysis with the antigenic peptide. The antibody detected MC-1R antigenicity on the surface of normal human melanocytes and WM35 melanoma cells, as shown by FACS and immunofluorescence analysis. The antibody was suitable for immunoperoxidase staining of deparaffinized skin sections, revealing prominent MC-1R staining of a cutaneous melanoma as opposed to undiseased skin in which normal melanocytes were only occasionally immunoreactive. Distinct adnexal structures in normal skin also displayed MC-1R immunostaining. Specificity of the MC-1R immunoreactivity in each technique was confirmed by preabsorption with the immunogenic peptide, omission, or substitution of the primary antibody with preimmune serum. Our results provide a baseline for future studies on MC-1R expression in diseased human skin.
Annals of the New York Academy of Sciences 11/1999; 885:372-82. · 3.15 Impact Factor
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ABSTRACT: 34 year-old pregnant woman presented with reticulate pigmentation of the flexures, the dorsum of the hands and the genitoperianal region. She was in good health and her family history was unremarkable. Histologic examination of the hyperpigmented patches revealed pigmented filiform downgrowths of the interfollicular epidermis and follicular infundibula, as well as small epithelial cysts. Upon immunohistochemical and ultrastructural studies, the number of melanocytes appeared normal. The elongated dendritic processes of the melanocytes contained many mature melanosomes. In the adjacent keratinocytes large melanosomes did not aggregate into complexes. The diagnosis of localized reticulate pigmentary disorder was established. The knowledge of the broad clinical spectrum of localized reticulate hyperpigmentations with its favorable prognosis is of practical importance. Genital or flexural pigmented lesions have to be differentiated from melanosis of the vulva or acanthosis nigricans. The presented case gives further evidence that many of the proposed entities characterized clinically by reticulate pigmented macules and hyperkeratotic follicular lesions are different phenotypic expressions of the same autosomal dominant genodermatosis.
Der Hautarzt 09/1999; 50(8):580-5. · 0.58 Impact Factor
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ABSTRACT: A 37-year-old white female with dark complexion presented with progressive hypopigmented macules on the face and upper trunk. She was in good health and her family history was unremarkable. Histologic examination of the hypopigmented patches revealed reduced melanin within the basal layers of the epidermis. Using immunohistochemical and ultrastructural studies, the number of melanocytes appeared normal but signs of degeneration were evident and dendrites were shortened. The diagnosis of idiopathic guttate hypomelanosis was established. The clinical picture, etiology and treatment of this relatively common but often unrecognized skin disease is discussed.
Der Hautarzt 10/1997; 48(9):662-5. · 0.58 Impact Factor
