Biopsy-proven PML in an HIV-negative patient with discoid lupus: Failure to detect JC virus in CSF.

We present a case of a 58-year-old man with a history of severe discoid lupus erythematosus and acute encephalopathy and incoordination. Antinuclear antibody testing was weakly positive but all other laboratory tests for systemic lupus erythematosus were negative and serum quantitative immunoglobulins and lymphocytes were normal. MRI brain showed T2/FLAIR hyperintensities within the bilateral parietal and temporal lobes with involvement of subcortical U fibers. CSF PCR was negative for varicella-zoster virus, herpes simplex, JCV and BK virus. However, JCV antibody index was elevated (3.88; reference: < 0.2). Right parietal brain biopsy was consistent with JCV infection and diagnostic of progressive multifocal leukoencephalopathy (PML). To the best of our knowledge, this is the first reported case of PML in a patient with discoid lupus without other traditional risk factors for the disease and highlights the need for clinical vigilance in this patient population.

Dermoscopy of discoid lupus erythematosus - a systematic review of the literature.

BACKGROUND: Discoid lupus erythematosus (DLE) may lead to disfiguring scarring and permanent hair loss. Dermoscopy may serve as a noninvasive tool useful in the preliminary diagnosis of hair loss and inflammatory skin diseases. The aim of the paper was to summarize and analyze the dermoscopic features of DLE lesions in various anatomical locations. METHODS: A systematic review of PubMed, Scopus and Web of Science was performed using the search terms: 'lupus' OR 'discoid lupus' OR 'cutaneous lupus' combined with 'dermoscopy' OR 'dermatoscopy' OR 'videodermoscopy' OR 'videodermatoscopy' OR 'trichoscopy' OR 'mucoscopy' OR 'onychoscopy'. RESULTS: About 29 out of 318 initially identified papers were included in the analysis. In scalp DLE (n = 166), the most common findings were: white structureless areas (62%), arborizing vessels (57.8%), white scales (54.2%), follicular keratotic plugs (47%), absent follicular openings (45.8%), perifollicular scaling (43.9%), pink-white background (40.4%), speckled brown pigmentation (38%), and fibrotic white dots (33.7%). In non-scalp DLE (n = 129), the most frequent features were: follicular keratotic plugs (66.7%), white perifollicular halo (65.9%), white scale (39.5%), speckled brown pigmentation (38.8%), white structureless areas (37.2%), and arborizing vessels (34.9%). There are scarce data in the literature on dermoscopic findings in labial (n = 8), mucosal (n = 3) and ungual DLE (n = 1). CONCLUSIONS: DLE is characterized by a wide variety of dermoscopic findings with variable frequencies depending on the location of the lesions. Nevertheless, further studies are needed in order to reliably assess frequencies, correlation with disease stage and significance of individual dermoscopic features.

A novel TRAF3IP2 variant causing familial scarring alopecia with mixed features of discoid lupus erythematosus and folliculitis decalvans.

Discoid lupus erythematosus (DLE) is an autoimmune disorder with a poorly defined etiology. Despite epidemiologic gender and ethnic biases, a clear genetic basis for DLE remains elusive. In this study, we used exome and RNA sequencing technologies to characterize a consanguineous Lebanese family with four affected individuals who presented with classical scalp DLE and generalized folliculitis. Our results unraveled a novel biallelic variant c.1313C > A leading to a missense substitution p.(Thr438Asn) in TRAF3IP2(NM_147200.3). Expression studies in cultured cells revealed mis-localization of the mutated protein. Functional characterization of the mutated protein showed significant reduction in the physical interaction with the interleukin 17-A receptor (IL17RA), while interaction with TRAF6 was unaffected. By conducting a differential genome-wide transcriptomics analysis between affected and non-affected individuals, we showed that the hair follicle differentiation pathway is drastically suppressed, whereas cytokine and inflammation responses are significantly upregulated. Furthermore, our results were highly concordant with molecular signatures in patients with DLE from a public dataset. In conclusion, this is the first report on a new putative role for TRAF3IP2 in the etiology of DLE. The identified molecular features associated with this gene could pave the way for better DLE-targeted treatment.

Concordance among in vivo reflectance confocal microscopy, trichoscopy, and histopathology in the evaluation of scalp discoid lupus.

BACKGROUND: Reflectance confocal microscopy (RCM) has been used for the evaluation of several inflammatory skin conditions, including skin discoid lupus erythematosus (DLE), and has been correlated with conventional histopathology (HP). However, RCM is not being widely used in trichology. Few reports and just preliminary data suggest the use of RCM as a complementary tool in alopecias. OBJECTIVES: To correlate the major RCM features of scalp DLE with trichoscopy and HP findings of biopsy specimens obtained from the same lesions. METHODS: This is an observational, analytical, and cross-sectional study involving 12 patients with a clinically established diagnosis of scalp DLE. Patients underwent global clinical photograph, trichoscopy, and RCM examination in the same site followed by two 4-mm punch biopsy specimens for HP analysis. Inter-methods agreement among RCM imaging, trichoscopy, and horizontal histopathology sections (HHS) were calculated using Cohen Kappa (k) statistics. RESULTS: Statistical analysis of the agreement between RCM and HP features disclosed an overall agreement similar to skin DLE. Seven of the eleven features evaluated had agreement superior to 75%. We also evaluated RCM features associated with three of their corresponding trichoscopic findings for further investigation of their agreement with HP. Statistical analysis showed an enhancement with agreement of 86% when the non-invasive techniques are used together. CONCLUSION: Consistent correlation between RCM and HP observed in our study supports the reliability of RCM in the diagnosis of scalp DLE. RCM may be considered a promising tool for scalp DLE microscopic evaluation and presents similar RCM features to DLE in other body sites. By associating clinical, trichoscopic and RCM evaluation, dermatologists will have a non-invasive arsenal for the assessment of hair and scalp disorders, benefiting patients.

Novel diagnostic imaging features of facial lupus panniculitis: ultrasound, CT, and MR imaging with histopathology correlate.

Lupus panniculitis (LP), also referred to as lupus erythematosus profundus (LEP), is a chronic recurrent inflammation condition of the subcutaneous fat. It occurs in 1 to 3% of patients with systemic lupus erythematosus (SLE) and in 10% of patients with discoid lupus erythematosus (DLE), but can also occur as an entity of its own. Patients with lupus panniculitis usually present with persistent, often tender and painful skin lesions, or subcutaneous nodules, that range from 1 to 5 cm in diameter. The overlying skin may appear erythematous; lesions may become ulcerated, and heal with atrophy, skin depression, dimpling and scaring. Lesions tend to resolve spontaneously and may follow a chronic course of remission and exacerbation that persists for months to years. The imaging features of facial LP are extremely scarce in the literature. We present a case of facial lupus panniculitis and describe the associated characteristic ultrasound, CT, and MR imaging findings along with histopathologic correlation.

Dermoscopy of Common Inflammatory Disorders.

In addition to its "traditional" application for the early diagnosis of melanoma and nonmelanoma skin cancers, dermoscopy gains appreciation in fields beyond dermato-oncology. Nowadays, dermoscopy has been established as a reliable adjunctive tool to the everyday clinical practice of general dermatology. Morphology and distribution of vascular structures, background colors, follicular abnormalities, and the presence of scales are important features that should be evaluated. Clinical examination remains the undoubted mainstay of diagnosis in inflammatory and infectious diseases.

Dermatoscopy and Reflectance Confocal Microscopy Correlations in Nonmelanocytic Disorders.

Dermatoscopy and in vivo reflectance confocal microscopy are noninvasive techniques that provide a horizontal approach, with an en face view of the skin structures. Both techniques assist in the clinical diagnosis of a variety of inflammatory and infectious cutaneous disorders. In many cases, they have shown concordance. Their combined use represents, in several instances, a promising option to reach the final diagnosis without the need for invasive procedures.

Ex vivo fluorescence confocal microscopy for intraoperative, real-time diagnosis of cutaneous inflammatory diseases: A preliminary study.

Ex vivo fluorescence confocal microscopy (FCM) is an innovative imaging tool that can be used intraoperatively to obtain real-time images of untreated excised tissue with almost histologic resolution. As inflammatory diseases often share overlapping clinical features, histopathology evaluation is required for dubious cases, delaying definitive diagnoses, and therefore therapy. This study identifies key-features at ex vivo FCM for differential diagnoses of cutaneous inflammatory diseases, in particular, psoriasis, eczema, lichen planus and discoid lupus erythematosus. Retrospective ex vivo FCM and histological evaluations with relevant diagnoses were correlated with prospectively reported histopathologic diagnoses, to evaluate agreement and the level of expertise required for correct diagnoses. We demonstrated that ex vivo FCM enabled the distinction of the main inflammatory features in most cases, providing a substantial concordance to histopathologic diagnoses. Moreover, ex vivo FCM and histological evaluations reached a substantial agreement with histopathologic diagnoses both for all raters and for each operator. After a yet to be defined learning curve, these preliminary results suggest that dermatologists may be able to satisfactorily interpret ex vivo FCM images for correct real-time diagnoses. Despite some limitations mainly related to the equipment of FCM with a single objective lens, our study suggests that ex vivo FCM seems a promising tool in assisting diagnoses of cutaneous inflammatory lesions, with a level of accuracy quite close to that offered by histopathology. This is the first study to investigate ex vivo FCM application in cutaneous inflammatory lesions, and to evaluate the diagnostic capability of this technology.

Clinical and dermoscopic spectrum of discoid lupus erythematosus: novel observations from lips and oral mucosa.

BACKGROUND: Under dermoscopy, discoid lupus erythematosus (DLE) exhibits specific findings. Commonly DLE lesions affect sun-exposed sites, especially the face. However, most of the dermoscopic reports come from scalp DLE. To our knowledge, the dermoscopic pattern for mucosal and labial DLE has not been previously reported. METHODS: This study included 20 patients with histopathologically confirmed DLE lesions. Full history taking was obtained with photo documentation of lesions including the sites involved, the number of lesions per site, and the total number of lesions affecting every patient. Finally, a dermoscopic examination was performed. RESULTS: Almost 85% of patients had only cutaneous DLE lesions, while 15% showed both cutaneous and mucosal lesions. Follicular keratotic plugging (56.1%) and scales (52.6%) were the most frequently detected dermoscopic criteria. A significant correlation was found between lesion's age and the following dermoscopic criteria: (early lesions: follicular keratotic plugs and perifollicular white halos; while late lesions: telangiectasia and white structureless areas). Furthermore, telangiectasia, white structureless areas, and ulceration were found in dermoscopy of mucosal DLE. Also, telangiectasia, brown pigment spots, scales, white structureless areas, bleeding spots, and erosions were detected in dermoscopy of labial DLE. Moreover, labial storiform telangiectasia was seen under dermoscopy in patients with associated SLE. CONCLUSIONS: Dermoscopy is a valuable tool for diagnosing DLE at different sites and in differentiating between the early and end-stage lesions. Herein, we reported the first dermoscopic view for DLE affecting the lips and oral mucosa. Labial storiform telangiectasia could be a dermoscopic sign of coexisting SLE.

Validity of trichoscopy in the diagnosis of primary cicatricial alopecias.

BACKGROUND: There are limited data on the validity of dermatoscopy in primary cicatricial alopecias (PCAs) and its subtypes, including lichen planopilaris and discoid lupus erythematosus. Trichoscopic features of PCAs, their prevalence, and validity were evaluated in this study. METHODS: One hundred patients with PCA underwent dermatoscopy. Biopsy specimens were obtained after the site was marked with a dermatoscope. The control group comprised 100 patients with non-cicatricial alopecia and 100 normal individuals. Finally, the prevalence, sensitivity, and specificity of trichoscopic features were evaluated using SPSS and Stata software. RESULTS: The absence of follicular opening, perifollicular scale, and presence of one scarring pattern or white patch were sensitive and specific patterns in the trichoscopy of PCAs. The presence of tortuous branching vessels and follicular keratotic plugging was 100% specific for a diagnosis of discoid lupus erythematosus. CONCLUSIONS: Some trichoscopic features can help a dermatologist to differentiate between non-cicatricial alopecia and PCA. Moreover, a group of dermatoscopic features can be helpful in the diagnosis of PCA subtypes.

Differentiation of Jessner's Lymphocytic Infiltration of the Skin from Various Chronic Cutaneous Lupus Erythematosus Subtypes by Quantitative Computer-Aided Image Analysis.

BACKGROUND: The distinction between chronic cutaneous lupus erythematosus and Jessner's lymphocytic infiltration of the skin is still not clear. OBJECTIVE: To investigate the difference between chronic cutaneous lupus erythematosus and Jessner's lymphocytic infiltration of the skin in an objective and quantitative manner. METHODS: Clinical photographs were examined for erythema quantification using two erythema parameters (a* and erythema dose), and histological images were assessed by computer-aided image analysis. RESULTS: The difference between normal and erythematous skin was more prominent using erythema dose than a*, but no significant differences among the three diseases were observed. The correlation between inflammatory dermal cell infiltration and epidermal thickness, as well as that between erythema parameters and histopathological features, was not significant. CONCLUSION: This is the first attempt to use computer-aided image analysis for the differentiation of similar skin diseases. However, the differentiation between these diseases using quantitative computer-aided image analysis was still not possible.

Coexistence of osteopoikilosis and discoid lupus erythematosus: a case report.

Osteopoikilosis is an uncommon, benign sclerosing bone dysplasia characterised by typical roentgenographic findings and usually seen in patients with dermatological problems. We report a case of osteopoikilosis and discoid lupus erythematosus presenting with skin and mucosal involvement, an association that has never previously been reported. We also discuss the differential diagnosis and the clinical pathologies accompanying osteopoikilosis in the literature.

[Cerebral positron emission tomographic study in systemic lupus erythematosus]. / Agyi pozitron emissziós tomográfiai vizsgálatok systemás lupus erythematosusban.

The cerebral glucose metabolism in eight patients with systemic lupus erythematosus (SLE) and in five healthy controls were examined by positron emission tomography (PET) using 18-F-labeled deoxy-glucose (FDG) as tracer. One of the eight patients had no abnormality by magnetic resonance imaging (MRI), three of them had cerebral atrophy and four patients had multiple white matter hyperintensities and vascular infarcts in the striatum as assessed by MRI. With FDG-PET, inhomogeneous multifocal cerebral glucose hypometabolism was detected, more frequently in the temporal lobe of right hemisphere. The PET findings did not correlate always with the neurological symptoms. Abnormalities in brain metabolism can be detected more frequently by PET, than morphological changes by MRI, indicating the involvement of the central nervous system.