Screening of Genes Associated with Immune Infiltration of Discoid Lupus Erythematosus Based on Weighted Gene Co-expression Network Analysis.

Discoid lupus erythematosus (DLE) is a disorder of the immune system commonly seen in women of childbearing age. The pathophysiology and aetiology are still poorly understood, and no cure is presently available. Therefore, there is an urgent need to explore the underlying molecular mechanisms, as well as search for new therapeutic targets. Gene expression data from skin biopsies samples of DLE patients and healthy controls were downloaded from the Gene Expression Omnibus database. The differentially expressed genes (DEGs) between DLE and healthy control samples were identified by differential expression analysis. Samples were analysed using CIBERSORT to examine the proportion of immune infiltration. Weighted gene co-expression network analysis was used to screen for the module most relevant to immune infiltration. Candidate genes were uploaded to the TRRUST database to obtain the potential transcription factors regulating these genes. Protein-protein interaction (PPI) analysis was performed to obtain the hub genes most associated with immune infiltration among the candidate genes. A total of 273 DEGs were identified between the DLE and healthy control samples. The results of immunoinfiltration analysis showed that the abundances of resting memory CD4 T cells, activated memory CD4 T cells and M1 macrophages were significantly higher, while those of resting infiltration of plasma cells, regulatory T cells and dendritic cells were lower in DLE samples than in healthy control samples. Correlation analysis showed that ISG15, TRIM22, XAF1, IFIT2, OAS2, OAS3, OAS1, IFI44, IFI6, BST2, IFIT1 and MX2 were negatively correlated with the abundances of plasma cells, T-cell regulatory cells and resting dendritic cells and positively correlated with activated memory CD4 T cells and M1 macrophages. Our study shows that these hub genes may regulate DLE via immune-related pathways mediated by the infiltration of these immune cells.

The dermatoscope in the hair clinic: Trichoscopy of scarring and nonscarring alopecia.

Trichoscopy is currently regarded as an essential part of the hair loss consultation. It allows visualization of morphologic structures that are not obvious to the naked eye, including peri- and interfollicular skin surface abnormalities and changes to hair shaft thickness and shape. In this paper, we aim to discuss current knowledge on trichoscopy of the most common forms of scarring and nonscarring alopecias.

Development of squamous cell carcinoma in the setting of chronic discoid lupus erythematosus may be associated with plasmacytoid dendritic cell inflammation.

Discoid lupus erythematosus (DLE) is the most common type of cutaneous lupus and is clinically characterized by alopecia, depigmentation, and scars on sun-exposed skin. Squamous cell carcinoma is a potential long-term complication. The most important risk factor for squamous cell carcinoma development in people with dark skin is chronic scarring and inflammation, such as those seen in long-standing discoid plaques. African Americans who develop squamous cell carcinoma in the setting of chronic scarring and inflammation have a greater risk of metastasis and recurrence compared to sun-induced squamous cell carcinoma seen in whites. Despite this, the pathogenesis of squamous cell carcinoma development in chronic DLE is not fully understood. Herein, we describe a case of an African American patient who developed squamous cell carcinoma on a long-standing discoid plaque. Analysis of the lesion revealed a null type pattern of p53 protein expression and abundant CD123+ plasmacytoid dendritic cells, as potential drivers of oncogenesis and inflammation, respectively. Dermatologists should be aware of the increased risk of squamous cell carcinoma development within long-standing discoid plaques for a prompt early diagnosis and active long-term surveillance.

Cutaneous Toll-like Receptor 9 Pre-Defines Hydroxychloroquine Dosage in Patients with Both Discoid and Subacute Lupus Erythematosus.

Background and Objectives: Cutaneous lupus erythematosus (CLE) presents clinically heterogeneous manifestations, partially explained by the different expression of Toll-like receptors (TLRs) type 8 and 9, located to endosomal compartments where they are poised to recognize microbial nucleic acids. This disease is empirically treated with hydroxychloroquine (HCQ), which is hallmarked with a safe and effective profile, but induces a slow and sometimes clinically insufficient therapeutic response. Currently, no biomarkers predictive of response are validated or even proposed in the scientific literature. We aimed to evaluate endosomal TLR type 7, 8 and 9 as predictive biomarkers of HCQ efficacy. Materials and Methods: We conducted a case-control study comparing CLE patients retrospectively assigned to three subgroups based on 3-6-month Cutaneous LE Disease Area and Severity Index (CLASI) reduction upon treatment with HCQ (I = <40% vs. II = 40-80% vs. III = >80%). Before HCQ, lesional skin specimens were collected in untreated CLE and through immunohistochemistry; TLR-7, -8 and -9 expression was evaluated in the epidermis and the lymphocytic infiltrate was evaluated in the dermis. Results: Sixty-six lesional skin biopsies were compared with healthy controls. CLE patients displayed lower epidermal expression of total TLR 8 and 9 as well as infiltrating TLR-8, TLR9 + lymphocytes compared to controls. High HCQ responders differed from low responders for TLR-9 positivity (high vs. low) and for the lymphocytic dermal infiltrate (high vs. low). Conclusions: TLR9 could be envisaged as a possible biomarker to predict HCQ response level and dosage in CLE patients.

Tight correlation of 5-hydroxymethylcytosine expression with the scarring damage of discoid lupus erythematosus.

OBJECTIVE: Cutaneous lupus erythematosus (CLE) is a heterogenous skin disease. The two most common subtypes are discoid LE (DLE) characterized by scarring skin damage and acute CLE (ACLE) presenting with transiently reversible skin lesions. It remains unknown what causes the difference of skin lesions. Studies have shown the existence of tissue-specific 5-Hydroxymethylcytosine (5 hmC)-modified regions in human tissues, which may affect the tissue-related diseases. Here, we aim to assess the expression of 5 hmc in DLE and ACLE lesions and explore the relationship of 5 hmc with scarring damage in DLE. METHODS: 84 CLE samples were included in the study. We evaluated the skin damage score and reviewed the histopathologic sections. Immunohistochemical staining was performed to detect the expression of 5 hmc in the appendage and periappendageal inflammatory cells. The 5 hmc expression in periappendageal lymphocytic cells was investigated by multi-spectrum immunohistochemistry staining. RESULTS: Scarring/atrophy was the most significant damage in differentiating the DLE from ACLE. Perifollicular inflammatory infiltration was present in all patients with DLE scarring alopecia (DLESA). The 5 hmc expression in the appendage and periappendageal inflammatory cells was significantxly increased in DLESA than ACLE. Similar expression pattern was seen in the staining of IFN-alpha/beta Receptor (IFNAR). The expression of 5 hmc in the appendage was positively correlated with that in the periappendageal inflammatory cells. There was an increased 5 hmc expression in lymphocytes cluster around hair follicle consisting of CD4+ cells, CD8+ cells, and CD19+ cells in DLESA lesions. CONCLUSION: These data demonstrate a close association of the expression pattern of 5 hmc with the histopathological characteristic distribution, and with the type I interferons (IFNs) signals in DLESA, supporting the importance of 5 hmc in the amplification of appendage damage and periappendageal inflammation, thereby offering a novel insight into the scarring damage of DLE and the heterogeneity of CLE skin lesions.

Aggravation of discoid lupus erythematosus in a patient with psoriasis and psoriatic arthritis during treatment of secukinumab: A case report and review of literature.

BACKGROUND: The coexistence of psoriasis and cutaneous lupus erythematosus (LE) is uncommon. Treatment for concomitant psoriasis and LE is challenging because some valid treatments for LE such as hydroxychloroquine and systemic corticosteroid are known to aggravate psoriasis. Th17 pathway is shared by these two disease entities. Thus, biologics targeting Th17 pathway, including ustekinumab and secukinumab, have been successfully used in the treatment of patients with concomitant psoriasis and LE. PURPOSE: We report a patient with aggravation of discoid lupus erythematosus (DLE) after secukinumab treatment for psoriasis. RESEACH DESIGN: Case report. STUDY SAMPLE: One patient was included in this case report. DATA COLLECTION AND ANALYSIS: Clinical and pathological pictures were presented after informed consent. RESULT: Symptoms of psoriasis and psoriatic arthritis almost resolved after 150 mg secukinumab every four weeks for 2 years, but lesions of DLE enlarged and became generalized. CONCLUSION: LE is a highly heterogeneous disease, and further studies are required to find the optimal treatment in patients suffering from both LE and psoriasis.

Acitretin treatment in antimalarial-refractory/intolerant discoid lupus erythematosus: A prospective, open-label, uncontrolled study.

BACKGROUND: The treatment of discoid lupus erythematosus (DLE) is often challenging, especially in patients who are refractory or intolerant to topical treatments and first-line systemic drugs, specifically antimalarial drugs. Although acitretin has been shown to be effective in patients with DLE in a few studies, there is no published study describing the long-term efficacy of acitretin with a validated score. OBJECTIVES: To evaluate the efficacy and safety of acitretin in patients with antimalarial-refractory/intolerant DLE. METHODS: A prospective, open-label, uncontrolled study was conducted in patients with antimalarial-refractory/intolerant DLE. All patients were treated with an initial dosage of 10 mg acitretin daily. Clinical response was assessed using the Revised Cutaneous Lupus Erythematosus Disease Area and Severity Index (RCLASI) at weeks 4, 8, 12, and 24. Acitretin was increased to 25 mg daily unless an adequate response was achieved at week 8. RESULTS: Fourteen patients were recruited. Of these, 10 were antimalarial-refractory and four were antimalarial-intolerant. The acitretin therapy was discontinued in one patient after 20 weeks of treatment because of active systemic disease. Of the 13 remaining patients, the mean RCLASI activity scores declined from 21 ± 9 at baseline to 9 ± 4 at week 24. A significant reduction in RCLASI was initially observed at week four and consistently noted at each follow-up visit (p ≤ 0.01). At the end of the study, a marked response was achieved in approximately 80% of patients. There were no statistically significant differences in the clinical response or in the requirement of the up-dosing of acitretin between the refractory and intolerance groups (p = 0.88 and p = 0.326, respectively). Age ≥50 years old, female sex, and generalized DLE were the favorable prognostic factors. No serious adverse events were noted. CONCLUSIONS: Acitretin appears to be an effective treatment with acceptable safety profiles for antimalarial-refractory/intolerant DLE.

Cross-sectional characteristics of pediatric-onset discoid lupus erythematosus: Results of a multicenter, retrospective cohort study.

BACKGROUND: The incidence of systemic lupus in children with discoid lupus is unknown. OBJECTIVE: This study assessed the baseline characteristics of patients with pediatric discoid lupus erythematosus (pDLE). METHODS: Medical records at 17 sites were reviewed for pediatric dermatology and rheumatology patients with discoid lupus erythematosus. The inclusion criteria were clinical and/or histopathologic diagnosis of discoid lupus erythematosus with an age at onset of <18 years. Baseline data were collected at the first documented visit. Outcomes included diagnosis of systemic lupus erythematosus (SLE) at the baseline visit using the 1997 American College of Rheumatology (primary) and the 2012 Systemic Lupus International Collaborating Clinics (secondary) criteria. RESULTS: Of the >1500 charts reviewed, 438 patients met the inclusion criteria. The cohort was predominantly female (72%) and racially/ethnically diverse. A diagnosis of SLE at the baseline visit (pDLE + SLE) was rendered in 162 (37%) patients using the American College of Rheumatology and in 181 (41%) patients using the Systemic Lupus International Collaborating Clinics criteria. Patients with pDLE + SLE were older at the time of rash onset (median, 12.9 vs 8.9 years; P < .001), with shorter time from discoid lupus erythematosus onset to diagnosis, compared with patients with pDLE-only (median, 2 vs 7 months; P < .001). Patients with pDLE + SLE were more likely to be female (P = .004), with generalized discoid lupus erythematosus and clinically aggressive disease, including end-organ involvement, positive serologies, and higher- titer levels of antinuclear antibodies (P < .001). LIMITATIONS: Retrospective study. CONCLUSION: A diagnosis of discoid lupus erythematosus in adolescence should prompt thorough screening for SLE.

The presence of mast cells in lichen planopilaris and discoid lupus erythematosus of the scalp: A quantitative study.

BACKGROUND: Histopathologic differentiation of lichen planopilaris (LPP) and discoid lupus erythematosus (DLE) as two common causes of primary cicatricial alopecias remains challenging. METHOD: We performed a histopathologic study on a case series of LPP and DLE specimens to investigate the number, distribution, and morphology of mast cells as indices for differentiation of these two entities. H&E investigation and Giemsa staining for the detection of mast cells was performed. RESULT: A total of 74 cases comprising 50 cases of LPP and 24 cases of DLE were assessed. The mean mast cell count and percentage were significantly higher in LPP group (p < 0.001). Mean degranulated mast cell count and the mean intact mast cell count were also significantly higher in LPP patients (p < 0.001). Most of the specimens, 58 (78.4%), showed both perifollicular and perivascular distribution of mast cells without significant difference between two groups. The morphology of mast cells was predominantly round-oval in 85.5%, predominantly fusiform in 13.5% with more frequent fusiform morphology in DLE group. CONCLUSION: The mast cell count detected by Giemsa staining could assist pathologists in distinguishing between LPP and DLE.

Merkel cell number and distribution, and CD200 expression in patients with lichen planopilaris and discoid lupus erythematosus.

BACKGROUND: Immune mechanisms are considered to be responsible for the pathogenesis of cicatricial alopecia in lichen planopilaris (LPP) and discoid lupus erythematosus (DLE) diseases. CD200 has an immunomodulatory function in hair follicles. The functions of Merkel cells (MCs) in hair follicles remain to be fully understood. OBJECTIVE: This study aimed to determine the number and distribution of MCs as well as CD200 expression in patients with DLE and LPP. METHODS: Using immunohistochemistry, the number and distribution of MCs (staining with CK20) and CD200 expression in biopsy specimens of LPP and DLE patients were compared with control group patients. RESULTS: The number of follicular MCs, total MCs, mean follicular MCs, and CD200 expression were significantly lower in the case groups compared to the control group. In CD200- cases, the number of follicular MCs and mean follicular MCs were significantly lower than in CD200+ cases. Retrospective design, lack of data regarding the history of alopecia in the control group, and unknown stage of disease in patients were the limitations. CONCLUSION: MC loss might play a role in immune privilege collapse in hair follicles. This study is novel in terms of investigating MCs in DLE and LPP patients.

Pediatric discoid lupus erythematosus: Short report.

Pediatric discoid lupus erythematosus (DLE) is a rare inflammatory skin disorder. This article aims to review all the available clinical and therapeutic data on reported cases of pediatric DLE. A systematic review of the literature was conducted using Pubmed and Embase with no limitation on publication date, sex, or nationality. Thirty-two articles were included with 201 cases, a mean age of 8.9 years (2 months-16 years) and an F:M ratio of 1.8. Lesions were located on the head and neck in 58.5% and were disseminated in 36.5% of the cases. Associated symptoms were pruritus (10.1%) and alopecia (8.7%). 12% progressed to systemic lupus erythematosus (SLE) and 14.5% had concurrent SLE. The only statistically significant predictor for progression to SLE was the onset of symptoms before or at the age of 10 years (p = 0.004). Treatments consisted mainly of sunscreens (26.3%), topical corticosteroids (24.3%), and oral antimalarials (25.3%). Retrospective nature of the included studies, small sample size, short duration of follow-up and limited data on the patients' demographics. Pediatric DLE affects mostly the head and neck, with a female predominance, a possible association with inflammatory and autoimmune diseases, and overall good treatment response and prognosis.

Atypical and Rare Forms of Cutaneous Lupus Erythematosus: The Importance of the Diagnosis for the Best Management of Patients.

Lupus erythematosus (LE) is an autoimmune disease with a wide range of clinical and cutaneous manifestations. Along with the well-known typical cutaneous manifestations of LE, some cutaneous manifestations are rarer, but still characteristic, enabling the dermatologist and the general practitioner who know them to suspect cutaneous LE (CLE) and investigate a possible underlying systemic involvement. Indeed, not infrequently a skin manifestation is the first presentation of systemic LE (SLE), and >75% of SLE patients show signs of skin disease during the course of the illness. Especially, SLE involvement occurs in cases of acute CLE, while it is uncommon in subacute CLE and rare in chronic CLE. This review aims to concentrate especially on atypical cutaneous manifestations of LE to enable the clinician to diagnose even the rarest forms of CLE.

Expression pattern of tissue-resident memory T cells in cutaneous lupus erythematosus.

BACKGROUND: Tissue resident memory T cells (TRMs) persist long-term in peripheral tissues without recirculation, triggering an immediate protective inflammatory state upon the re-recognition of the antigen. Despite evidence incriminating the dysregulation of TRMs in autoimmune diseases, few studies have examined their expression in cutaneous lupus erythematosus (CLE). OBJECTIVES: We aimed to examine whether there are differences among TRM populations in CLE depending on different clinical conditions, such as the CLE subtype or association with systemic lupus erythematosus, and to determine the effect of type I interferon (IFN) on the development of TRMs in CLE. METHODS: CLE disease activity was evaluated using the Cutaneous Lupus Erythematosus Disease Area and Severity Index. The expression of the TRM markers CD69 and CD103 in CLE lesions was evaluated by immunofluorescence. Flow cytometry was performed on peripheral blood mononuclear cells after IFNα treatment. RESULTS: The number of TRMs expressing either CD69 or CD103 was significantly higher in CLE lesions than in control skin; however, it was not significantly different between discoid lupus erythematosus and subacute CLE, or dependent on the presence of concomitant systemic lupus. Lesional severity was not correlated with an increase in TRMs in CLE. IFNα treatment induced a conspicuous increase in CD69 expression in skin-homing T cells, more profoundly in CD4+ T cells than in CD8+ T cells. CONCLUSIONS: Skin TRMs, either CD69 or CD103-positive cells, showed increased levels in the lesional skin of CLE, and IFNα increased the expression of CD69 in T cells.

Refractory palmo-plantar discoid lupus erythematosus successfully treated with mycophenolate mofetil: Unusual localization and literature review.

Palmo-plantar lesions in discoid lupus erythematosus (DLE) can be considered a very distinct rarity, generally refractory to conventional treatments. We present a 47-year-old African female patient with a 6-month clinical history of palm and soles erosions. Clinical examination revealed painful multiple, well defined, erosions with an erythematous and scaly central area and peripherical post-inflammatory hyperchromic border bilaterally distributed on the palmo-plantar surfaces. Pterygium inversum unguis involved all nails of both hands. Histological analysis and direct immunofluorescence study confirmed palmo-plantar DLE. Therapy with mycophenolate mofetil (MMF) was initiated with a progressive clearing of palmo-plantar lesions and a drastic reduction of pain. Therapy was well tolerated, neither side effects nor altered laboratory investigations were observed. Our case and literature review confirm that MMF may be an effective approach for the management of refractory palmo-plantar DLE with a safer profile than Azathioprine regarding adverse effects and cutaneous malignancies risk.

Comparison of effectiveness of topical tacrolimus 0.1% vs topical halobetasol propionate 0.05% as an add-on to oral hydroxychloroquine in discoid lupus erythematosus.

In recent years, calcineurin inhibitors have been used as the first line alternative to topical corticosteroids in the treatment of discoid lupus erythematosus (DLE). We aim to evaluate the efficacy and safety of topical tacrolimus 0.1% vs topical halobetasol propionate 0.05% in patients with DLE. This comparative study was carried out in the Department of Dermatology and Venereology, Chittagong Medical College Hospital (CMCH), Bangladesh between the period of July 2018 and June 2019. The change of DLE activity assessed with the cutaneous lupus erythematosus disease area and severity index was used as a primary outcome measure. The effective sample was 40 patients in each group. Both groups were similar in terms of baseline demographic and clinical characteristics. After 8 weeks of treatment, the mean total erythema score decreased significantly in both groups (in tacrolimus treated group [TTG] from 12.53 ± 8.05 to 8.03 ± 5.69, [P < .001] and in halobetasol propionate treated group [HTG] from 11.83 ± 7.17 to 7.30 ± 4.56 [P < .001]), as well as the mean total scale/hypertrophy score (in TTG from 8.08 ± 5.30 to 4.33 ± 3.21; [P < .001] and in HTG from 7.40 ± 4.73 to 3.68 ± 2.01, [P < .001]. The magnitude of reduction was significantly better in HTG [P = .032]). The mean total activity score decreased significantly in both groups (in TTG from 22.95 ± 13.40 to 14.33 ± 8.89, [P < .001] and in HTG from 22.15 ± 11.95 to 13.7 ± 7.22, [P < .001]). The present study demonstrated that tacrolimus 0.1% ointment and halobetasol propionate 0.05% ointment had a comparable efficacy in DLE patients; however, halobetasol showed significantly better improvement regarding scaly, hypertrophic lesions.

Macrophage Migration Inhibitory Factor (MIF) and Its Homologue d-Dopachrome Tautomerase (DDT) Inversely Correlate with Inflammation in Discoid Lupus Erythematosus.

Discoid Lupus Erythematosus (DLE) is a chronic cutaneous disease of unknown etiology and of immunoinflammatory origin that is characterized by inflammatory plaques and may lead to disfiguring scarring and skin atrophy. Current treatments are limited, with a large proportion of patients either poorly or not responsive, which makes DLE an unmet medical need. Macrophage migration inhibitory factor (MIF) is the prototype of a pleiotropic family of cytokine that also includes the recently discovered homologue D-dopachrome tautomerase (DDT) or MIF2. MIF and DDT/MIF-2 exert several biological properties, primarily, but not exclusively of a proinflammatory nature. MIF and DDT have been suggested to play a key role in the pathogenesis of several autoimmune diseases, such as multiple sclerosis and type 1 diabetes, as well as in the development and progression of certain forms of cancers. In the present study, we have performed an immunohistochemistry analysis for the evaluation of MIF in DLE lesions and normal skin. We found high levels of MIF in the basal layer of the epidermis as well as in the cutaneous appendage (eccrine glands and sebocytes) of normal skin. In DLE lesions, we observed a significant negative correlation between the expression of MIF and the severity of inflammation. In addition, we performed an analysis of MIF and DDT expression levels in the skin of DLE patients in a publicly available microarray dataset. Interestingly, while these in silico data only evidenced a trend toward reduced levels of MIF, they demonstrated a significant pattern of expression and correlation of DDT with inflammatory infiltrates in DLE skins. Overall, our data support a protective role for endogenous MIF and possibly DDT in the regulation of homeostasis and inflammation in the skin and open up novel avenues for the treatment of DLE.

Lupus erythematosus: Significance of dermatologic findings.

Herein, the different skin manifestations in patients with lupus erythematosus are reviewed, and their diagnostic, pathogenic and prognostic relevance are discussed, as well as their impact on therapeutic choices. The so-called specific lesions of LE result from an autoimmune pathomechanism and they allow diagnosis of LE by simple clinicopathological correlation since the findings are characteristic. They include the classic acute, subacute and chronic variants, characterised microscopically by interface dermatitis; the dermal variants of lupus, such as tumid lupus, displaying dermal perivascular lymphocytic infiltrate with mucin deposition under the microscope, and lupus profundus, in which lymphocytic lobular panniculitis progressing to hyaline fibrosis is found. Antimalarials are the treatment of choice for patients with specific LE lesions. The presence of some dermatological signs is the result of thrombotic vasculopathy. Their recognition allows the identification of lupus patients at increased cardiovascular risk and with a worse overall prognosis. Those signs include reticulated erythema on the tip of the toes, splinter hemorrhages, atrophie blanche, pseudo-Degos lesions, racemosa-type livedo, anetoderma, ulceration and necrosis. Those clinical manifestations, often subtle, must be recognised, and if present, patients should be treated with antiplatelet drugs. Finally, neutrophilic cutaneous lupus erythematosus includes a few entities that suggest that autoinflammatory mechanisms might play a key role in certain lupus manifestations. Among those entities, it is very important to diagnose neutrophilic urticarial dermatosis, which can mimic a classic lupus flare, because it is characterised by rash with joint pain, but immunosuppressants are not helpful. Dapsone is the treatment of choice.

Ophthalmic manifestations in patients with collagen vascular disorders: a hospital-based retrospective observational study.

AIM: To study frequency and characteristics of ocular manifestations in Indian patients with collagen vascular disorders. METHODS: The medical records of 73 patients (Males: Females 16:57) aged between 22 and 78 years (mean ± SD = 43.5 ± 12.9 years) with collagen vascular diseases were analyzed retrospectively for demography, subtypes of collagen vascular disease, and findings of complete ophthalmic examination. RESULTS: Lupus erythematosus (LE) in 39(53.4%, (SLE 18, DLE 21), systemic sclerosis in 27(37%), dermatomyositis in 5(6.8%), and primary Sjögren's syndrome in 2(2.7%) patients, respectively, were observed. Only 35(47.9%) patients had ocular manifestations. In LE keratoconjunctivitis sicca (n = 6), keratitis (n = 5), severe blepharitis (n = 3), retinopathy (n = 2), and optic neuritis in one patient, respectively, were major ocular manifestations. Major abnormalities occurring in systemic sclerosis included restricted eyelid mobility of variable severity (n = 8), eyelid telangiectasia (n = 5), keratoconjunctivitis sicca (n = 6), cataract (n = 5), shallow fornices (n = 4), conjunctival surface disease (n = 4), and uveitis, keratitis, episcleritis in one patient each, respectively. One patient with dermatomyositis had heliotrope rash. Two patients with primary Sjögren's syndrome had keratoconjunctivitis sicca. CONCLUSIONS: The study shows that LE frequently presented with keratoconjunctivitis sicca, retinopathy, and optic neuritis. Systemic sclerosis commonly develops eyelid immobility, blepharitis and telangiectasia, ocular surface disease and keratoconjunctivitis sicca, corneal abnormalities, and uveitis. A comprehensive ocular evaluation is imperative for early detection and management particularly of ocular surface disease, uveitis, and retinopathy to prevent potential sight-threatening complications. Limitations include retrospective study design and small number of patients for stratification.

Variability of the rs333 in Polish patients with lupus erythematosus.

INTRODUCTION: Lupus erythematosus (LE) is an autoimmune disease with a strong influence of genetic and environmental factors. C-C motif chemokine receptor 5 (CCR5) gene expression may affect the development and intensity of LE. AIM: To evaluate the possible association between the 32bp deletion in rs333 locus located within the CCR5 gene and the development of LE or the occurrence of various clinical symptoms in the course of the disease. MATERIAL AND METHODS: One hundred and twenty patients with LE (77 with systemic lupus erythematosus (SLE) and 43 with discoid lupus erythematosus (DLE)) and 100 healthy controls from the Polish population were genotyped for deletion in rs333. RESULTS: 32 bp deletion in the rs333 was significantly more frequent among healthy individuals than DLE patients. Moreover, heterozygotes and homozygotes with deletion in rs333 were significantly more frequent within the control group than the group of patients with discoid lupus erythematosus. In contrast, any statistically significant differences in allele or genotype frequencies between healthy persons and SLE patients were observed. Furthermore, nucleotide sequence variability of rs333 was not associated with certain clinical symptoms of LE patients. CONCLUSIONS: Deletion in the rs333 might be a protective factor for DLE, but not SLE in the Polish population. Nevertheless further studies performed on larger populations are needed to confirm these observations.

Basal cell carcinoma arising over lesion of discoid lupus erythematosus: a rare occurrence.

Although the association of discoid lupus erythematosus (DLE) with squamous cell carcinoma has been described in the literature, coexistence with a basal cell carcinoma is very rare. The indolent and non-pruritic nature of the lesion cause it often to be diagnosed at the late stage of the disease. Long-standing photosensitivity and chronic inflammation later lead to scarring and hypopigmentation, which are considered as the risk factors for the malignant changes over DLE. Incisional biopsy is often performed from the erythematosus lesion which does not respond to medical treatment. Here we have reported a rare case of basal cell carcinoma of the skin developing in the background of long-standing DLE, which was successfully managed with cold knife local excision.