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1.
Hautarzt ; 68(11): 867-875, 2017 Nov.
Artículo en Alemán | MEDLINE | ID: mdl-29018889

RESUMEN

Albinism can be divided into oculocutaneous albinism (OCA) and ocular albinism (OA). In the differential diagnostics these can be distinguished from rarer syndromes with partial albinism, which are frequently associated with susceptibility to infections and neurological symptoms. The OCA is an autosomal recessive inherited disease of melanin biosynthesis, which leads to complete or partial loss of melanin in the skin, hair follicles and eyes. Of the seven currently known subtypes (OCA 1-7), four are well-characterized (OCA 1-4). These are based on gene mutations, which code for tyrosinase, a key enzyme in melanin synthesis and for further proteins. These play an important role in the catalytic activity of tyrosinase and the structure and function of melanosomes. In the presence of these subtypes, the clinical symptoms and the course of the disease show a pronounced variability, especially in the type and extent of pigmentation of the skin and hair as well as the severity of eye involvement, which makes the phenotypic classification difficult. Treatment priorities are a consistent protection from UV light for prophylaxis against skin cancer and regular preventive investigations. The ocular alterations typical for albinism necessitate timely diagnostics and care by institutions specialized in ophthalmology. Novel strategies for systemic treatment of subtypes of albinism are in preclinical testing. The OA without skin involvement shows X­linked inheritance, is much rarer and is characterized by reduced pigmentation of the retina and iris, nystagmus and macular hypoplasia, sometimes with substantial loss of visual acuity. The typical ocular symptoms of OA can be manifested to a varying extent in all forms of OCA.


Asunto(s)
Albinismo Ocular/diagnóstico , Albinismo Oculocutáneo/diagnóstico , Albinismo Ocular/clasificación , Albinismo Ocular/genética , Albinismo Ocular/terapia , Albinismo Oculocutáneo/clasificación , Albinismo Oculocutáneo/genética , Albinismo Oculocutáneo/terapia , Aberraciones Cromosómicas , Análisis Mutacional de ADN , Diagnóstico Diferencial , Diagnóstico Precoz , Intervención Médica Temprana , Genes Recesivos/genética , Genes Ligados a X , Humanos , Comunicación Interdisciplinaria , Colaboración Intersectorial , Melaninas/biosíntesis , Monofenol Monooxigenasa/genética
2.
Hautarzt ; 68(11): 876-884, 2017 Nov.
Artículo en Alemán | MEDLINE | ID: mdl-29030646

RESUMEN

Systemic drug treatment of vitiligo is currently limited to predominantly adjuvant measures for increasing the effectiveness of UV light therapy. We here present new approaches for the systemic treatment of vitiligo currently under clinical investigation. These include the α­MSH-analogue afamelatonide and oral immunosuppressants such as the Janus kinase (JAK) inhibitors which target interferon-α-dependent autotoxic inflammatory reactions. In 2015 the first publications on the successful systemic use of Janus kinase (JAK) inhibitors in vitiligo appeared. The effectiveness was experimentally supported by animal models of vitiligo and by the characterization of new biomarkers in the serum of vitiligo patients. This may significantly expand the range of treatment options for vitiligo. Topical antiinflammatory and UV therapies are still the main components of vitiligo treatment, often in combination. The main outcome parameters include the extent and duration of repigmentation, cessation of spreading, avoidance of side effects and improvement in the quality of life of patients.


Asunto(s)
Inmunosupresores/uso terapéutico , Quinasas Janus/antagonistas & inhibidores , Piperidinas/uso terapéutico , Pirazoles/uso terapéutico , Pirimidinas/uso terapéutico , Pirroles/uso terapéutico , Terapia Ultravioleta , Vitíligo/diagnóstico , Vitíligo/terapia , alfa-MSH/análogos & derivados , Animales , Biomarcadores/sangre , Terapia Combinada , Modelos Animales de Enfermedad , Humanos , Inmunosupresores/efectos adversos , Interferón-alfa/antagonistas & inhibidores , Nitrilos , Piperidinas/efectos adversos , Pirazoles/efectos adversos , Pirimidinas/efectos adversos , Pirroles/efectos adversos , Terapia Ultravioleta/efectos adversos , Vitíligo/fisiopatología , alfa-MSH/efectos adversos , alfa-MSH/uso terapéutico
3.
Hautarzt ; 67(2): 173-86; quiz 187-9, 2016 Feb.
Artículo en Alemán | MEDLINE | ID: mdl-26781864

RESUMEN

BACKGROUND: Vitiligo is a chronic skin disorder with depigmentation of circumscribed areas due to structural and functional damage to melanocytes. RESULTS: There is international consensus on the classification in nonsegmental and segmental vitiligo. The influence of vitiligo on the quality of life is significant and is influenced by ethnic and sociocultural factors. There is a new insight into the genetic susceptibility, mechanisms and targets of the autoimmune inflammation, the altered morphology and function of melanocytes and into the association of vitiligo with other autoimmune diseases, skin cancer and skin cancer therapy. CONCLUSIONS: The recognition of associated autoimmune disorders is as important as is the assessment of changes in the quality of life. New insight into the pathogenesis may have therapeutic consequences. The relationship between vitiligo and skin cancer and between vitiligo and immunotherapies in patients with metastatic melanoma warrants close clinical monitoring of affected patients and further scientific studies.


Asunto(s)
Enfermedades Autoinmunes/diagnóstico , Dermatología/normas , Guías de Práctica Clínica como Asunto , Calidad de Vida , Neoplasias Cutáneas/diagnóstico , Vitíligo/diagnóstico , Enfermedades Autoinmunes/complicaciones , Enfermedades Autoinmunes/psicología , Diagnóstico Diferencial , Alemania , Humanos , Neoplasias Cutáneas/complicaciones , Neoplasias Cutáneas/psicología , Vitíligo/clasificación , Vitíligo/complicaciones , Vitíligo/psicología
4.
Hautarzt ; 67(3): 249-64, 2016 Mar.
Artículo en Alemán | MEDLINE | ID: mdl-26909811

RESUMEN

The range of treatment options for vitiligo has significantly expanded in the last 10 years and we can offer our patients more effective treatment strategies supported by European guidelines and consensus findings. Topical and UV therapy are-often in combination-the main components of vitiligo treatment. The main outcome parameters include extent and maintenance of gained repigmentation, cessation of spreading, avoidance of side effects and the influence of the treatment on the quality of life. The efficacy of the currently available treatments is often limited. New options include antioxidative or melanocyte-stimulating adjuvant therapies in combination with UV or laser light as well as a topical maintenance treatment to reduce the risk of recurrences. In many cases, psychological support is indicated.


Asunto(s)
Antioxidantes/administración & dosificación , Fármacos Dermatológicos/administración & dosificación , Glucocorticoides/administración & dosificación , Terapia Ultravioleta/métodos , Vitíligo/diagnóstico , Vitíligo/terapia , Antiinflamatorios/administración & dosificación , Antioxidantes/efectos adversos , Terapia Combinada/métodos , Fármacos Dermatológicos/efectos adversos , Medicina Basada en la Evidencia , Humanos , Resultado del Tratamiento
5.
J Eur Acad Dermatol Venereol ; 29(1): 134-42, 2015 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-24684198

RESUMEN

BACKGROUND: There is a perpetuating increase in melanoma and basal cell carcinoma (BCC) incidence in Europe. Few studies are evaluating various risk factors for both tumours. OBJECTIVES: This pre-planned additional analysis directly compared occupational and past-time ultraviolet exposure behaviour, and examined the effects of sun sensitivity between melanoma and sporadic BCC, and assessed its importance for the two entities. PATIENTS/METHODS: The study included 503 patients (melanoma, n = 291 and BCC, n = 212), and 329 controls from Germany. In all, 244 (49%) of the cases and 165 (50%) of the controls were male (median age melanoma, 55 years; BCC, 69 years; and controls, 57 years). Selection of important risk factors was performed by backward elimination in a polytomous logistic regression. RESULTS: When directly comparing melanoma and sporadic BCC, actinic elastosis (OR 48.83; 95% CI 17.87, 133.40) and site were associated with a higher risk of melanoma, whereas mountaineering in childhood, sunburn 20 years before diagnosis, farming full time, sunbed use in general, seborrheic keratosis, actinic cheilitis, actinic keratosis and age were associated with a higher risk of sporadic BCC. Gardening 20 years before melanoma, hair colour and solar lentigo were risk factors for both entities. A re-evaluation of the data excluding lentiginous melanoma entities (i.e. acro-lentiginous and lentigo-maligna melanoma) resulted in selection of the same factors. However, compared to controls, atopy evolved as a protective factor for melanoma (OR 0.29; 95% CI 0.15, 0.57) and BCC (OR 0.41; 95% CI 0.17, 0.99), respectively, but was associated with a higher risk of sporadic BCC compared to melanoma. CONCLUSION: The odds for having clinical actinic elastosis was lower in BCC compared to melanoma. In contrast, various factors associated with chronic UV exposure and age had higher odds for sporadic BCC, rather than melanoma. Further research is required to set the context for these findings, especially regarding, atopy in non-lentiginous vs. lentiginous forms of melanoma, and possible molecular pathways involved.


Asunto(s)
Carcinoma Basocelular/epidemiología , Melanoma/epidemiología , Exposición Profesional/efectos adversos , Recreación , Neoplasias Cutáneas/epidemiología , Rayos Ultravioleta/efectos adversos , Factores de Edad , Anciano , Agricultura , Carcinoma Basocelular/etiología , Queilitis/epidemiología , Niño , Femenino , Jardinería , Alemania/epidemiología , Humanos , Queratosis Actínica/epidemiología , Queratosis Seborreica/epidemiología , Masculino , Melanoma/etiología , Persona de Mediana Edad , Montañismo , Factores de Riesgo , Neoplasias Cutáneas/etiología , Quemadura Solar/epidemiología
6.
Hautarzt ; 66(8): 625-33; quiz 634-5, 2015 Aug.
Artículo en Alemán | MEDLINE | ID: mdl-26148460

RESUMEN

Numerous cutaneous manifestations have been reported in patients with hematologic malignancies. This review provides an overview on this subject by dividing skin lesions into three main groups: (1) skin disorders due to vascular changes (dilatation, occlusion and inflammation), (2) unspecific (e.g. paleness, opportunistic infections) and specific skin lesions (e.g. leukemia cutis), and (3) the large group of paraneoplastic skin disorders. Emphasis is placed on clinical findings and therapeutic options of those paraneoplastic syndromes that are most frequently found in hematologic malignancies.


Asunto(s)
Neoplasias Hematológicas/diagnóstico , Neoplasias Hematológicas/terapia , Síndromes Paraneoplásicos/diagnóstico , Síndromes Paraneoplásicos/terapia , Enfermedades de la Piel/diagnóstico , Enfermedades de la Piel/terapia , Diagnóstico Diferencial , Neoplasias Hematológicas/complicaciones , Humanos , Síndromes Paraneoplásicos/etiología , Enfermedades de la Piel/etiología
9.
Hautarzt ; 68(11): 866, 2017 Nov.
Artículo en Alemán | MEDLINE | ID: mdl-29022051
10.
Hautarzt ; 63 Suppl 1: 53-8, 2012 Apr.
Artículo en Alemán | MEDLINE | ID: mdl-22543947

RESUMEN

Basic research on psoriasis has identified a number of molecular targets which can be of therapeutic interest. While the first two biologics--alefacept and efalizumab--were developed primarily for dermatologists, other agents like cytokine antagonists (TNFα antagonists) were introduced primarily by other medical fields. Knowledge has provided new impulses for research, so that today many therapeutic strategies are being developed, not exclusively limited to biologics. Others branches of dermatology also have benefitted greatly from biologics like ipilimumab or omalizumab.


Asunto(s)
Anticuerpos Monoclonales/uso terapéutico , Productos Biológicos/uso terapéutico , Fármacos Dermatológicos/uso terapéutico , Enfermedades de la Piel/tratamiento farmacológico , Humanos
11.
Clin Exp Immunol ; 166(2): 145-53, 2011 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-21985360

RESUMEN

Eosinophils contribute to the pathogenesis of bullous pemphigoid (BP) by secretion of proinflammatory cytokines and proteases. Trafficking of eosinophils into tissue in animal models and asthma depends on interleukin-5 and a family of chemokines named eotaxins, comprising CCL11, CCL24 and CCL26. Up-regulation of CCL11 has been described in BP, but the expression of the other two members of the eotaxin-family, CCL24 and CCL26, has not been investigated. In addition to these chemokines, expression of adhesion molecules associated with eosinophil migration to the skin should be analysed. We demonstrate that similar to CCL11, the concentration of CCL26 was up-regulated in serum and blister fluid of BP patients. In contrast, the concentration of CCL24 was not elevated in sera and blister fluid of the same BP patients. In lesional skin, CCL11 and CCL26 were detected in epidermis and dermis by immunohistochemistry. In contrast to CCL11, CCL26 was expressed strongly by endothelial cells. In line with these findings, eosinophils represented the dominating cell population in BP lesional skin outnumbering other leucocytes. The percentage of eosinophils expressing very late antigen (VLA): VLA-4 (CD49d) and CD11c correlated with their quantity in tissue. Macrophage antigen (MAC)-1 (CD11b/CD18) was expressed constitutively by tissue eosinophils. In conclusion, these data link the up-regulation of the eosinophil chemotactic factor CCL26 in BP to the lesional accumulation of activated eosinophils in the skin. Thereby they broaden the understanding of BP pathogenesis and might indicate new options for therapeutic intervention.


Asunto(s)
Quimiocina CCL11/sangre , Quimiocinas CC/sangre , Eosinófilos/inmunología , Penfigoide Ampolloso/inmunología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Vesícula/inmunología , Antígeno CD11c/biosíntesis , Antígenos CD18/biosíntesis , Quimiocina CCL24/sangre , Quimiocina CCL26 , Factores Quimiotácticos Eosinófilos/biosíntesis , Factores Quimiotácticos Eosinófilos/inmunología , Factores Quimiotácticos Eosinófilos/metabolismo , Células Endoteliales/citología , Células Endoteliales/metabolismo , Eosinófilos/metabolismo , Eosinófilos/patología , Femenino , Humanos , Integrina alfa4beta1/biosíntesis , Activación de Linfocitos , Antígeno de Macrófago-1/biosíntesis , Masculino , Persona de Mediana Edad , Penfigoide Ampolloso/patología , Piel/citología , Piel/metabolismo , Piel/patología
12.
Eur J Med Res ; 16(2): 47-51, 2011 Feb 24.
Artículo en Inglés | MEDLINE | ID: mdl-21463980

RESUMEN

BACKGROUND: Ceftriaxone is commonly used as an alternative antibiotic drug in treating syphilis but clinical data on its efficacy are limited. OBJECTIVE: To evaluate the response of HIV-infected patients with active syphilis to treatment with penicillin or ceftriaxone. - METHODS: A retrospective study involving 24 consecutive patients with a positive Veneral Disease Research Laboratory test (VDRL) and at least one specific treponemal test. 12 patients were treated with different regimens of high-dose penicillin G for at least 2 weeks. Another 12 patients were treated with ceftriaxone 1-2g per day intravenously for 10-21 days. - RESULTS: After a median follow up of 18,3 months all patients of the penicillin-treated group and 11 of 12 ceftriaxone-treated patients showed a ≥ 4-fold decline in VDRL-titers; 91% of them already within 6 months after therapy. - CONCLUSION: Our serological data demonstrate a comparable efficacy of currently recommened penicillin and ceftriaxone treatment regimens for active syphilis in HIV-infected patients.


Asunto(s)
Antibacterianos/uso terapéutico , Ceftriaxona/uso terapéutico , Infecciones por VIH/tratamiento farmacológico , Neurosífilis/tratamiento farmacológico , Penicilinas/uso terapéutico , Adulto , Infecciones por VIH/sangre , Infecciones por VIH/complicaciones , Humanos , Inyecciones Intravenosas , Masculino , Persona de Mediana Edad , Neurosífilis/sangre , Neurosífilis/complicaciones , Estudios Retrospectivos , Serodiagnóstico de la Sífilis , Resultado del Tratamiento
13.
Hautarzt ; 62(4): 297-307, 2011 Apr.
Artículo en Alemán | MEDLINE | ID: mdl-21431920

RESUMEN

Seborrheic dermatitis is a frequent skin disorder in infancy and adulthood. It also often occurs in patients with HIV or neurologic disorders like Parkinson disease or mood disorders. It is characterized by greasy, yellow flakes or scales in areas of high sebaceous gland activity like the scalp, face, chest and upper back. Additionally, erythema and itching can be present. The etiology and pathogenesis of seborrheic dermatitis is unknown; however, the focus lies on the involvement of Malassezia yeasts or fatty acid metabolites of Malassezia, on hormones and immunologic factors. The diagnosis is usually a clinical one, based on history and the appearance and site of lesions. The therapy consists mainly of antifungal agents, corticosteroids, immunomodulators, and keratolytics. Because of the chronicity of the illness with frequent relapses, a treatment strategy in which effectiveness and potential side effects are weighed should be used.


Asunto(s)
Corticoesteroides/uso terapéutico , Antifúngicos/uso terapéutico , Dermatitis Seborreica/tratamiento farmacológico , Dermatitis Seborreica/patología , Factores Inmunológicos/uso terapéutico , Queratolíticos/uso terapéutico , Humanos
14.
Br J Dermatol ; 162(3): 661-8, 2010 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-19863501

RESUMEN

BACKGROUND: Patients with severe eczema frequently receive systemic glucocorticosteroids. The efficacy of prednisolone and other steroids, however, has never been evaluated appropriately. A meta-analysis indicated that ciclosporin is the best evaluated systemic treatment for eczema. OBJECTIVES: To investigate the comparative efficacy of prednisolone and ciclosporin for severe eczema. METHODS: In an investigator-initiated double-blind randomized multicentre trial, adults with severe eczema (objective SCORAD > or = 40 and Dermatology Life Quality Index > or = 10) were randomly allocated to receive prednisolone (initial dose 0.5-0.8 mg kg(-1) daily) for 2 weeks followed by placebo for 4 weeks or ciclosporin (2.7-4.0 mg kg(-1) daily) for 6 weeks and followed for another 12 weeks. Concomitant treatment included a moderately potent topical steroid, emollients, and continuation of antihistamines. Primary endpoint was the proportion of patients with stable remission, i.e. > or = 50% SCORAD improvement under active treatment and no flare (> or = 75% of baseline SCORAD) during follow-up. Sample size calculation indicated that 66 patients were needed to see clinically relevant differences between groups. Analysis was by intention-to-treat (ClinicalTrials.gov Identifier: NCT00445081). RESULTS: Because of unexpectedly high numbers of withdrawals due to significant exacerbations of eczema (n = 15/38) an independent data monitoring and safety board proposed early study termination. Thirty-eight patients were randomized and analysed. Stable remission was achieved in one of 21 patients receiving prednisolone compared with six of 17 patients treated with ciclosporin (P = 0.031). CONCLUSIONS: Ciclosporin is significantly more efficacious than prednisolone for severe adult eczema. Despite its frequent use in daily practice, prednisolone is not recommended to induce stable remission of eczema.


Asunto(s)
Antiinflamatorios/efectos adversos , Ciclosporina/efectos adversos , Fármacos Dermatológicos/efectos adversos , Eccema/tratamiento farmacológico , Prednisolona/efectos adversos , Adolescente , Adulto , Antiinflamatorios/administración & dosificación , Ciclosporina/administración & dosificación , Fármacos Dermatológicos/administración & dosificación , Método Doble Ciego , Femenino , Humanos , Masculino , Prednisolona/administración & dosificación , Estadística como Asunto , Resultado del Tratamiento , Adulto Joven
15.
Biochim Biophys Acta Biomembr ; 1862(9): 183342, 2020 09 01.
Artículo en Inglés | MEDLINE | ID: mdl-32416190

RESUMEN

Peroxisomes are eukaryotic organelles that function in numerous metabolic pathways and defects in peroxisome function can cause serious developmental brain disorders such as adrenoleukodystrophy (ALD). Peroxisomal membrane proteins (PMPs) play a crucial role in regulating peroxisome function. Therefore, PMP homeostasis is vital for peroxisome function. Recently, we established that certain PMPs are degraded by the Ubiquitin Proteasome System yet little is known about how faulty/non-functional PMPs undergo quality control. Here we have investigated the degradation of Pxa1p, a fatty acid transporter in the yeast Saccharomyces cerevisiae. Pxa1p is a homologue of the human protein ALDP and mutations in ALDP result in the severe disorder ALD. By introducing two corresponding ALDP mutations into Pxa1p (Pxa1MUT), fused to mGFP, we show that Pxa1MUT-mGFP is rapidly degraded from peroxisomes in a proteasome-dependent manner, while wild type Pxa1-mGFP remains relatively stable. Furthermore, we identify a role for the ubiquitin ligase Ufd4p in Pxa1MUT-mGFP degradation. Finally, we establish that inhibiting Pxa1MUT-mGFP degradation results in a partial rescue of Pxa1p activity in cells. Together, our data demonstrate that faulty PMPs can undergo proteasome-dependent quality control. Furthermore, our observations may provide new insights into the role of ALDP degradation in ALD.


Asunto(s)
Miembro 1 de la Subfamilia D de Transportador de Casetes de Unión al ATP/genética , Transportadoras de Casetes de Unión a ATP/genética , Adrenoleucodistrofia/genética , Proteínas de Saccharomyces cerevisiae/genética , Ubiquitina-Proteína Ligasas/genética , Adrenoleucodistrofia/patología , Humanos , Proteínas de la Membrana/genética , Redes y Vías Metabólicas/genética , Mutación/genética , Peroxisomas/genética , Complejo de la Endopetidasa Proteasomal/genética , Proteolisis , Saccharomyces cerevisiae/genética
16.
Rheumatology (Oxford) ; 48(1): 70-3, 2009 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-19056798

RESUMEN

OBJECTIVES: In SSc, diagnosis and classification is based mainly on skin sclerosis. Herein, we investigated in a large multicentre cohort, to what extent skin sclerosis reflects organ involvement and additional clinical symptoms. METHODS: A total of 1200 SSc patients from the register of the German Systemic Sclerosis Network (DNSS), classified as either lcSSc or dcSSc, were analysed for their serological characteristics, clinical symptoms and organ manifestations in relation to skin involvement measured by the modified Rodnan skin score (mRSS). RESULTS: SSc patients with different mRSS did not differ significantly in their disease duration and in most of the clinical symptoms. They showed a similar distribution of most organ manifestations such as pulmonary arterial hypertension as well as cardiac, renal and nervous system involvement. More severe skin thickening was found to be associated with pulmonary fibrosis and gastrointestinal symptoms, as well as with digital ulcers and musculoskeletal involvement. CONCLUSIONS: In patients with SSc, potentially life-threatening complications and clinical symptoms with high impact on the quality of life occur independently from the extent of skin sclerosis. The diagnosis in SSc patients with a low mRSS could be missed or they could be insufficiently treated.


Asunto(s)
Esclerodermia Sistémica/patología , Piel/patología , Estudios de Cohortes , Contractura/etiología , Trastornos de Deglución/etiología , Humanos , Hipertensión Pulmonar/etiología , Fibrosis Pulmonar/etiología , Esclerodermia Difusa/complicaciones , Esclerodermia Difusa/patología , Esclerodermia Sistémica/complicaciones , Índice de Severidad de la Enfermedad , Úlcera Cutánea/etiología , Factores de Tiempo
17.
Br J Dermatol ; 161(4): 878-83, 2009 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-19624545

RESUMEN

BACKGROUND: Atopic eczema (AE) is a common dermatological condition that causes significant problems in everyday life and high levels of illness-related stress in substantial proportions of patients. The extent to which adult AE is associated with clinically relevant psychiatric morbidity is unclear. OBJECTIVES: To investigate the association between adult AE and major psychiatric/psychosomatic disorders. METHODS: Case-control study utilizing the GKV database Saxony, an interdisciplinary administrative outpatient database from Germany. All patients documented as having AE at least twice within the study period (2003-2004) (n = 3769, mean age 44 years) were individually matched by age and sex to 3769 controls without AE. Logistic regression models were fitted to investigate the relationship of AE with affective, stress-related, behaviour and schizophrenic disorders, considering sociodemographic characteristics, consulting behaviour and allergic comorbidities as potential confounding factors. RESULTS: Eczema was independently associated with affective [adjusted odds ratio (OR) 1.42, 95% confidence interval (CI) 1.13-1.79], stress-related (OR 1.55, 95% CI 1.35-1.77), behaviour (OR 1.52, 95% CI 1.03-2.23) and schizophrenic disorders (OR 2.12, 95% CI 1.22-3.71). For each psychiatric condition the likelihood of being affected significantly increased with each physician visit due to AE, suggesting that the risk of psychiatric comorbidity increases with the severity of AE. CONCLUSIONS: This study indicates psychiatric comorbidity of adults with AE. Collaboration between dermatologists and mental health specialists may optimize medical care for a significant subgroup of patients with AE.


Asunto(s)
Eccema/psicología , Trastornos Mentales/psicología , Estrés Psicológico/psicología , Adolescente , Adulto , Anciano , Estudios de Casos y Controles , Intervalos de Confianza , Femenino , Alemania , Humanos , Masculino , Persona de Mediana Edad , Escalas de Valoración Psiquiátrica , Factores de Riesgo , Adulto Joven
18.
Br J Dermatol ; 160(4): 835-43, 2009 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-19183180

RESUMEN

BACKGROUND: Digital ulcers (DU) are a major complication in the course of systemic sclerosis (SSc). In recent years, efficacious, but expensive therapies (e.g. iloprost, sildenafil, bosentan) have been shown to improve healing or to reduce the recurrence of DU. For optimal management it would be useful to identify the risk factors for DU. Such statistical analyses have been rare because they require a high number of patients. OBJECTIVES: To identify potential risk factors for DU in patients with SSc. METHODS: We used the registry of the German Network for Systemic Scleroderma and evaluated the data of 1881 patients included by August 2007. We assessed potential risk factors for DU by comparing patients with (24.1%) and without active DU at time of entry (75.9%). RESULTS: Multivariate analysis revealed that male sex, presence of pulmonary arterial hypertension (PAH), involvement of the oesophagus, diffuse skin sclerosis (only when PAH was present), anti-Scl70 antibodies, young age at onset of Raynaud's phenomenon (RP), and elevated erythrocyte sedimentation rate (ESR) significantly impacted on the appearance of DU. Certain combinations increased the patients' probability of presenting with DU, with the highest probability (88%) for male patients with early onset of RP, ESR>30 mm h(-1), anti-Scl70 antibodies and PAH. Patients with DU developed RP, skin sclerosis and organ involvement approximately 2-3 years earlier than patients without DU. CONCLUSIONS: The results reveal possible risk factors for the occurrence of DU in SSc. As DU are prone to local complications, prophylactic vasoactive treatment for patients presenting with these factors may be justified.


Asunto(s)
Enfermedad de Raynaud/etiología , Esclerodermia Sistémica/etiología , Úlcera/complicaciones , Adulto , Femenino , Dedos , Alemania , Humanos , Masculino , Persona de Mediana Edad , Análisis Multivariante , Oportunidad Relativa , Enfermedad de Raynaud/psicología , Enfermedad de Raynaud/terapia , Medición de Riesgo , Esclerodermia Sistémica/psicología , Esclerodermia Sistémica/terapia , Factores Socioeconómicos , Úlcera/psicología , Úlcera/terapia
19.
Dermatology ; 219(2): 162-6, 2009.
Artículo en Inglés | MEDLINE | ID: mdl-19478477

RESUMEN

Chilblain lupus erythematosus is a rare form of cutaneous lupus erythematosus characterized by bluish red infiltrates in acral locations of the body mostly affecting middle-aged women. We recently described a familial form of chilblain lupus manifesting in early childhood caused by a heterozygous mutation in the TREX1 gene, which encodes a 3'-5' DNA exonuclease. Thus, familial chilblain lupus represents the first monogenic form of cutaneous lupus erythematosus. Here we describe the unusual clinical course of this newly defined genodermatosis in an 18-year-old female member of the family in which familial chilblain lupus was originally described.


Asunto(s)
Exodesoxirribonucleasas/genética , Predisposición Genética a la Enfermedad , Lupus Eritematoso Cutáneo/genética , Lupus Eritematoso Cutáneo/patología , Fosfoproteínas/genética , Adolescente , Aspirina/uso terapéutico , Biopsia con Aguja , Enfermedad Crónica , Progresión de la Enfermedad , Quimioterapia Combinada , Femenino , Técnica del Anticuerpo Fluorescente Directa , Estudios de Seguimiento , Regulación de la Expresión Génica , Humanos , Hidroxicloroquina/uso terapéutico , Inmunohistoquímica , Lupus Eritematoso Cutáneo/tratamiento farmacológico , Mutación , Enfermedades Raras , Medición de Riesgo , Índice de Severidad de la Enfermedad , Resultado del Tratamiento
20.
Hautarzt ; 60(3): 208-16, 2009 Mar.
Artículo en Alemán | MEDLINE | ID: mdl-19242669

RESUMEN

The pemphigus diseases, which include some of the most severe bullous autoimmune skin reactions, are seen predominantly in middle-aged and elderly individuals. Only endemic pemphigus foliaceus in South America most frequently affects juveniles and children. All non-endemic pemphigus diseases, including paraneoplastic pemphigus, have been reported to occur in adolescents and even very rarely in children younger than 10 years. Pemphigus vulgaris in pregnancy represents a frequently overseen medical problem and may result in fetal growth retardation, intrauterine death, premature delivery and - in about 30% - in neonatal pemphigus vulgaris of the newborn. Contrary to pemphigus vulgaris, the transplacental crossing of autoantibodies against desmoglein1 in pregnant women with pemphigus foliaceus hardly ever leads to neonatal skin lesions in the offspring. This phenomenon can be explained by differences in the distribution and cross-compensation of the pemphigus antigens desmoglein3 and 1 in neonatal and adult skin or mucosa, respectively.


Asunto(s)
Pénfigo/diagnóstico , Aborto Espontáneo/inmunología , Adolescente , Autoanticuerpos/sangre , Brasil , Niño , Preescolar , Desmogleína 1/inmunología , Desmogleína 3/inmunología , Diagnóstico Diferencial , Enfermedades Endémicas , Femenino , Alemania , Humanos , Lactante , Recién Nacido , Masculino , Intercambio Materno-Fetal/inmunología , Síndromes Paraneoplásicos/diagnóstico , Síndromes Paraneoplásicos/inmunología , Pénfigo/inmunología , Embarazo , Complicaciones del Embarazo/diagnóstico , Complicaciones del Embarazo/inmunología
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