BACKGROUND:Alopecia areata (AA) is a common hair loss disorder with a complex mode of inheritance. Autoimmune mechanisms are presumed to be crucial aetiologically. It is plausible that a number of autoimmune disorders may share a common genetic background. This phenomenon has been demonstrated in previous studies, which have shown an overlap of susceptibility alleles between AA and other autoimmune disorders. Recent studies have shown that genetic variants on the TRAF1/C5 (tumor necrosis factor receptor-associated factor 1, complement component 5) locus confer susceptibility to rheumatoid arthritis (RA). OBJECTIVES:To examine the role of the TRAF1/C5 locus in the development of AA using a large sample of 1,195 patients with AA and 1280 controls. METHODS:We genotyped the two most significant single nucleotide polymorphisms (SNPs) (rs10818488, rs2416808) from a former RA candidate gene study. After having obtained evidence for association, we performed a fine-mapping study and genotyped the locus with an additional 27 SNPs. RESULTS:While no significant result was obtained for the overall sample, rs2416808 showed significant associations in the analysis of the subgroups with severe AA and with a positive family history. The most significant P-value for rs2416808 was in familial cases (P = 0.004, P(corr) = 0.026). The fine mapping revealed significant associations for four additional SNPs in the analysis of subgroups, with rs2416808 remaining the most significant marker. CONCLUSIONS:Our results point to the involvement of the TRAF1/C5 locus in the aetiology of familial and severe AA, and provide further support for a shared aetiology between AA and other autoimmune disorders.
BACKGROUND:Whereas teledermatology is an emerging discipline, to date, no teledermatology service has been developed, which is specifically dedicated to black skins.OBJECTIVES:To create and develop a teledermatology service that provides a complete range of communication, information, telediagnosis and teaching services.METHODS:A multilingual clinical description of the lesion was provided for each photograph using a five-level disease classification from the 10th revised International Classification of Diseases. In parallel, a usability study to assess and improve the functionality of the platform was also conducted.RESULTS:A web prototype has been developed which integrates image acquisition, submission, clinical description, translation as well as validation, security and data protection aspects and almost 2000 images were obtained from which 600 have been integrated in the 'store and forward' telemedicine system (http://www.black-skin.org). Initial usability tests with native French medical students show good perceived usefulness, perceived usability and internal consistency (Cronbach's alpha = 0.80 and 0.84).CONCLUSION:The Black Skin project (North and South collaboration project) offers possibilities for continuous medical education (pedagogical cases), teleteaching (educational quiz) or asking for a second opinion ('Ask a specialist' item).
SUMMARY A prospective survey on scabies in Ghent, Belgium was performed in 2004. Sixty-four individual cases were reported, corresponding to a crude incidence rate of 28/100 000 inhabitants. The incidence was higher in the elderly (51/100 000 in persons aged >75 years) and a higher incidence was also found in immigrants (88/100 000). More than 40% of the registered scabies patients had symptoms for more than 4 weeks at the time of presentation. In 54% of the consultations, the patient had already consulted a physician for his/her skin problem. Of this group, 44% had not yet received any scabicidal treatment, indicating that scabies was not yet diagnosed or that an inappropriate treatment was prescribed. The observations suggest that the diagnosis and/or treatment of scabies in this region can still be improved.
BACKGROUND:The functional R620W (c.1858C>T) variant of the protein tyrosine phosphatase nonreceptor 22 gene (PTPN22) has been associated with a variety of autoimmune disorders. A recent study has suggested that R620W also contributes to the severe form of alopecia areata (AA).OBJECTIVES:We sought to replicate the finding of an association between PTPN22 and severe AA. In addition, we wanted to study the effect of PTPN22 on the general risk to develop AA and on other subtypes of AA (mild AA, early/late age at onset, positive/negative family history).METHODS:The R620W variant was genotyped in a large case-control sample of Belgian-German origin with 435 patients and 628 controls.RESULTS:Significant results were obtained for the overall collective of patients with AA (P=0.007). Subdividing the sample according to severity of AA, family history and age at onset, we detected lowest P-values for patients with the severe form of AA (Pcorr=0.036), with a positive family history (Pcorr=0.042) and with an age at onset<or=20 years (Pcorr=0.048).CONCLUSIONS:Our results suggest the R620W variant of PTPN22 as a general risk factor in AA with the strongest effect observed among patients with a severe type of AA, a positive family history or an early onset of disease.
A functional variant in the Fc receptor-like 3 (FCRL3) gene has been implicated in susceptibility to autoimmune diseases such as rheumatoid arthritis, systemic lupus erythematosus and autoimmune thyroid disease. Investigating a large case-control sample of patients with alopecia areata (AA), we found no evidence for the involvement of FCRL3 in susceptibility to AA.
BACKGROUND:Familial aggregation of alopecia areata (AA) has been previously described, but systematic studies with information obtained directly from family members have yet to be undertaken.OBJECTIVE:We sought to study the pattern of familial aggregation of AA by assessing the affection status of patients' relatives. The study included 206 index patients with a total of 1029 first-degree and 2625 second-degree relatives.METHODS:First-degree relatives were directly interviewed, whereas information on second-degree relatives was obtained by interviewing the index patients and their first-degree relatives.RESULTS:Estimated lifetime risks were 7.1% in siblings, 7.8% in parents, and 5.7% in offspring. The risk in second-degree relatives was slightly higher than the reported population risk. Age at onset in index patients and first-degree relatives was significantly correlated.LIMITATIONS:Using patients drawn from specialized hair clinics may have produced results showing a higher proportion of early onset and severe cases.CONCLUSION:The familial aggregation of AA supports the role of genetic factors in the development of the disease. In addition, our data indicate genetic factors might contribute to the age at onset of AA.
A recent study has suggested that the g.961C > G (p.Ser278Arg) variant of the autoimmune regulator (AIRE) gene contributes to susceptibility to alopecia areata (AA). We attempted to replicate this finding using a case-control sample of Belgian-German origin (273 patients and 283 controls). Despite adequate power, our study results do not support a significant association of the risk allele in our AA patient sample. This remained the case when we stratified our sample according to severity and family history of disease. Our study results do not support the hypothesis that the g.961C > G (p.Ser278Arg) polymorphism of the AIRE gene is associated with an increased risk for AA.
Scabies is an infectious skin disease with an increasing incidence during the past decade. A survey was conducted among general practitioners (GPs) and dermatologists in the region of Ghent, Belgium, to explore their knowledge on scabies. Information on the treatment advice given and the frequency of reporting scabies to the Health Inspection was also collected. The scores on the knowledge test were of an acceptable level in both GPs and dermatologists (median score 59% and 79% respectively). We found that profession (dermatologist versus GP), the number of years of experience and the estimated number of scabies patients per year had a significant effect on this score. Permethrin cream, currently regarded as the standard treatment, is prescribed as the only treatment for scabies by half of the GPs and dermatologists. Almost 50% of the GPs and dermatologists indicated they rarely or never report scabies to the Health Inspection. As a result the correct incidence of scabies in Belgium, as in many other countries, is not known.
Background: Bexarotene, a novel and unique synthetic P, RXR-selective retinoid, is available as retinoid a treatment for cutaneous T-cell lymphoma. In psoriasis, a common retanoid-sensitive disease, no data are available on bexarotene treatment.Objective: In this phase II study we investigated the safety, tolerability,and effectiveness of bexarotene in psoriasis at closes of 0.5 to 3.0 mg/kg/day.Methods: Fifty patients with moderate to severe plaque-type psoriasis were treated with bexarotene in 4 sequential dose-defined panels of 12-13 patients at closes of 1.0, 2.0, 0.5, and 3.0 mg/kg/day for 12-24 weeks. Patients were monitored for safety and clinical efficacy.Results: No serious adverse events related to the drug occurred. Bexarotene was well tolerated in most patients. Most frequently observed adverse events related to bexarotene were hypertriglyceridaemia (56%) and a decrease in free T4 serum levels (54%). Significant improvement of psoriasis after bexarotene at all closes was confirmed by)v a modified psoriasis area and severity index (mPASI), plaque elevation (PEL), and physicians global assessment (PGA). Overall response rates (greater than or equal to50% improvement) for mPASI, PEL, and PGA were 22%: 52%, and 36%, respectively. No significant close-response effect was established for these parameters.Conclusion: The present study indicates an anti-psoriatic effect of bexarotene. Further studies are necessary to assess the optimal close and the potential for hexarotene as a new therapy for psoriasis.
This article describes the consensus on the treatment of acne, reached by a Belgian working group. An effective treatment has to rely as much as possible on the pathophysiologic factors: the increased production of sebum, the abnormal desquamation (retention hyperkeratosis) of the epithelium of he sebaceous gland, the proliferation of Propionibacterium acnes and inflammation. The therapeutic arsenal contains topical as well as systemic drugs. This consensus gives an overview of both modalities and an algorithm is presented describing the practical approach to acne treatment.
This electron-microscopic study of the catagen phase shows that the first alteration of regression of the follicle is localized in the papilla, where the cells withdraw their offshoots and break the contact with the basal lamina. Both at the level of the papilla and of the bulb structures appear that increase the cell cohesion. Under the influence of the outer root sheath an upward migration occurs. This is followed by plication and thickening of the basal lamina. The alterations in the connective tissue sheath occur in a further stage. The first signs of autolysis occur in the center of the epithelial column. At the end of the catagen stage macrophages take care of the clearing-up.