Barbara C. Böckle

Smoking is highly associated with discoid lupus erythematosus and lupus erythematosus tumidus: analysis of 405 patients

Background Environmental factors appear to play a role in the pathogenesis of lupus erythematosus (LE). Objective To determine the association between cigarette smoking and various types of cutaneous LE. Design Retrospective descriptive study at a dermatology clinic of a tertiary referral hospital. Methods All patients diagnosed with cutaneous and/or systemic LE from January 2000 to December 2012 at the outpatient clinic for dermatological autoimmune diseases were analyzed. Results 405 patients were diagnosed with LE. Smokers were more common among patients with cutaneous LE, especially those with LE tumidus or discoid LE. The frequency of cigarette smokers was not significantly higher among patients with other LE-specific skin lesions and patients with systemic LE compared to the general population. Smoking at the onset of disease was associated with LE tumidus (odds ratio OR 4.5), discoid LE (OR 2.05), the male gender (OR 3.31), age < 50 years (OR 1.03), and photosensitivity (OR 2.07). Limitations A retrospective descriptive study at a tertiary referral hospital. Conclusion Smoking is highly associated with cutaneous LE, but not systemic LE. Various risk factors appear to be involved in the pathogenesis of cutaneous and systemic LE.

Oral mucous squamous cell carcinoma-an anticipated consequence of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED).

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disease caused by mutations in the AIRE gene. We report the case of a female patient with a 967-979del13 mutation in the AIRE gene. Her medical history included autoimmune hypoparathyroidism, Addison disease, and chronic mucocutaneous candidiasis. At the age of 40, she developed multiple white verrucous plaques on the oral mucosa. Histologically, the lesions appeared as moderately differentiated squamous cell carcinomas. The patient subsequently developed multiple local recurrences and therefore required repeated surgery. Notably, a higher incidence rate of oral and esophageal squamous cell carcinoma has been observed in this syndrome. However, the critical pathogenetic pathways implicated in squamous cell carcinoma development in APECED are far from being well understood.

Isolation and characterization of CD133 + CD34 + VEGFR-2 + CD45 − fetal endothelial cells from human term placenta☆

The phenotypes and functions of endothelial cells (EC), a heterogeneous cell population, vary along the vascular tree and even in the same organ between different vessels. The placenta is an organ with abundant vessels. To enhance further knowledge concerning placenta derived EC, we develop a new method for isolation, purification and culture of these EC. Moreover, in order to investigate the peculiarity of placenta derived EC we compare their phenotypic and functional characteristics with human dermal lymphatic endothelial cells (HDLEC) and human umbilical vein endothelial cells (HUVEC). Freshly isolated placenta derived EC displayed an elongated shape with pale cytoplasm and showed the typical cobblestone pattern of EC but also a swirling pattern when confluent. FISH-analyses of the isolated EC from placentae of male fetus revealed an XY genotype strongly indicating their fetal origin. Characterisation of placenta derived fetal EC (fEC) underlined their blood vessel phenotype by the expression of vWF, Ulex europaeus lectin-1, HLA-class I molecules, CD31, CD34, CD36, CD51/61, CD54, CD62E, CD105, CD106, CD133, CD141, CD143, CD144, CD146, VEGFR-1, VEGFR-2, EN-4, PAL-E, BMA120, Tie-1, Tie-2 and α-Tubulin. In contrast to previous reports the expression of lymphatic markers, like VEGFR-3, LYVE-1, Prox-1 and Podoplanin was consistently negative. Haematopoietic surface markers like CD45 and CD14 were also always negative. Various functional tests (Dil-Ac-LDL uptake, Matrigel assay and TNF-α induced upregulation of CD62E and CD54) substantiated the endothelial nature of propagated fEC. At the ultrastructural level, fEC harboured numerous microvilli, micropinocytic vesicles at their basis, were rich in intermediate filaments and possessed typical Weibel - Palade bodies. In conclusion, the placenta is a plentiful source of fetal, microvascular, blood EC with an expression profile (CD34+, CD133+, VEGFR-2+, CD45-) suggestive of an endothelial progenitor phenotype.

Bortezomib-Induced Lupus Erythematosus Tumidus

Disclosures: Barbara C. Bockle: None; Mehmet Baltaci: None; Walpurga Weyrer: None; Norbert T. Sepp: None. The content of this article has been reviewed by independent peer reviewers to ensure that it is balanced, objective, and free from commercial bias. No financial relationships relevant to the content of this article have been disclosed by the authors, planners, independent peer reviewers, or staff managers.

Adrenal Insufficiency as a Result of Long-Term Misuse of Topical Corticosteroids

The treatment of chronic inflammatory skin disease is associated with the use of topical corticosteroids. Their efficacy, tolerability and adverse effects depend on several factors, specifically potency, type of preparation, extemporaneous dilutions, quantity used, magnitude of the treated body surface, frequency of application, location, patient age, method of application and condition of the skin barrier. We report on two men suffering from chronic inflammatory skin disease, who presented with fatigue and cushingoid appearance after prolonged self-application of potent corticosteroids. Impairment of the skin barrier due to their underlying skin disease, frequent self-application of topical steroids and repeated application of the entire body led to extensive absorption of these substances, eventually culminating in the suppression of the pituitary-hypothalamic-adrenal axis. In conclusion, topical corticosteroids are effective and well-established therapeutic modalities. However, inappropriate use of topical corticosteroids can cause side effects.

Danger lurks in the Mediterranean.

In February, 2009, a 52-year-old woman presented to us with a 2-month history of progressive swelling of the right cheek, which did not aff ect the eyelid or the lips. She had no previous medical history, recent trauma, surgery, medication (particularly no ACE inhibitors, which can cause facial swelling) and no history of skin tumours or autoimmune diseases. She was otherwise well, with no dyspnoea, dysphagia, xerostomia, pain, or itching. At another hospital, dental radiography and CT of the head showed right cheek soft tissue swelling. Histological examination of a biopsy sample of the buccal mucosa showed non-specifi c infl ammation. No exact diagnosis was established. The patient was prescribed amoxicillin with clavulanic acid for 3 weeks, followed by corticosteroids for 1 week, without clinical improvement. She was then admitted to our department for further investigations. On examination, she had distinct, soft swelling of her right cheek without infl ammation or scaling of the overlying skin. A subcutaneous mobile nodule was palpable enorally in the centre of the swelling. Saliva could be expressed from the salivary gland. Possible causes of unilateral cheek swelling (surgery, trauma, congenital disorders, drugs, dental disorders, salivary gland disorders, tumours, vasculitis, allergy, infections, and chronic infl ammatory disorders) were considered. ESR, blood count, aspartate and alanine aminotransferases, glomerular fi ltration rate, creatinine concentrations, and creatine kinase were normal. Serum tests for viruses, stool tests for parasites, and antinuclear antibodies were all negative. MRI showed diff use lymphoedema of the right cheek with a central distinct infl ammatory process. A deep incisional biopsy was done enorally at the centre of the right cheek swelling. Histology showed a chronic infl ammatory process with epitheloid granulomas. In the centre of one granuloma, we found an eosinophilic sickle-shaped fi gure, which was a section of a nematode identifi ed as Dirofi laria repens (fi gure). PCR confi rmed the diagnosis. Our patient was started on albendazole 400 mg twice daily for 3 weeks. The cheek swelling resolved within 4 weeks. On questioning about travel history, our patient recalled an insect bite 6 months previously, in Florence, Italy. At follow-up in June, 2010, the swelling had not recurred. D repens, a nematode of dogs and other domestic and wild carnivores, is endemic in southern and eastern Europe, south and central Asia, and Africa. It is transmitted by mosquitoes. People are only accidental hosts, and the parasites may be destroyed by the immune response. Pre-adult worms migrate subcutaneously and cause non-specifi c infl ammatory symptoms such as subcutaneous oedema due to obstructed lymph vessels. Subcutaneous nodules are a result of foreign-body granulomas around the worm. Infection is most common in the upper body, especially the face. The epidemiology of human dirofi lariasis is related to the prevalence of infected dogs, the presence of mosquitoes, suitable climate, humidity, and human activities that lead to exposure. The incidence in Europe has grown substantially in the past 50 years. Diagnosis is made on morphological examination of the worm, after surgical excision. Eosinophilia or raised IgE concentrations are rare. Ultrasonography and MRI can diff erentiate subcutaneous dirofi larial lesions from those of other aetiologies. Treatment of cutaneous dirofi lariasis consists of total excision of the nodule. The goal of anthelmintic therapy (ivermectin or albendazole) is to eradicate the infection if secondary lesions or incomplete excision are suspected. With global warming, fi larial infection might spread into previously infection-free areas. Dirofi lariasis must be considered in particular in cases with chronic progressive swelling.

Cerebral large vessel vasculitis in systemic lupus erythematosus.

Neuropsychiatric systemic lupus erythematosus (NPSLE) is defined by involvement of the central nervous system in systemic lupus erythematosus (SLE), with a wide range of both neurological and psychiatric manifestations. Although its aetiopathogenesis is not fully elucidated, NPSLE seems to be a consequence of cerebral vascular pathology including thromboembolism, small-vessel vasculopathy and, in rare cases, true vasculitis. Cerebral vasculitis is rare, and cerebral large-vessel vasculitis in SLE is even more unusual. We report the case of a female patient with the diagnosis of SLE. She presented with stroke-like symptoms, headache and vertigo, and palpable purpura on her legs. Further investigations revealed that she suffered from both vasculitis of the cerebral large vessels and coexisting cutaneous small-vessel vasculitis.

Analysis of 303 Ro/SS-A antibody-positive patients: is this antibody a possible marker for malignancy?

Background  The risk of cancer in patients with autoimmune diseases has been investigated in several studies. Ro/SS‐A antibodies are frequent and specific autoantibodies among patients with various autoimmune diseases.

Hepatitis C virus and autoimmunity

Hepatitis C virus infection is associated with several extrahepatic manifestations. About 60% of patients infected with HCV develop at least one extrahepatic manifestation. The majority of these diseases seem to be triggered through autoimmune mechanisms, such as autoantibody production, autoreactive T cells and complex autoimmune mechanisms leading to systemic autoimmune disorders. In this review we categorize these diseases into three groups according to the main pathogenetic process involved, in particular B-cell-mediated, T-cell-mediated and complex autoimmune systemic diseases.

Eczematous reaction to intravenous immunoglobulin: an alternative cause of eczema.

Author Affiliations: Department of Dermatology, Louisiana State University Health Sciences Center, New Orleans (Grieshaber, Nicotri); Baldone Reina Dermatology, Covington, Louisiana (Reina); Louisiana State University Health Sciences Center, New Orleans (Rupley); Dermatopathology Section, Department of Pathology and Laboratory Medicine, Tulane University Health Sciences, Tulane University School of Medicine, New Orleans, Louisiana (Wang).