Agnieszka Kalińska-Bienias

Heart rate turbulence assessment in systemic sclerosis: the role for the detection of cardiac autonomic nervous system dysfunction

OBJECTIVE To assess the heart rate turbulence (HRT) in patients with SSc as a method of assessment for cardiac autonomic nervous function. METHODS We prospectively studied 68 consecutive patients with SSc before inclusion in the study. After a detailed clinical evaluation, including echocardiography, 45 subjects [aged 54.6 (14.7) years; 40 women] underwent 24-h Holter monitoring for HRT and time- and frequency-domain heart rate variability (HRV) assessment. Results were compared with those in 30 age- and sex-matched healthy controls. RESULTS As compared with controls, HRT was impaired in SSc patients: the median turbulence onset (TO) was higher (P = 0.0001) and the median turbulence slope (TS) was lower (P = 0.0003). Abnormal HRT (TO > or =0.0% and/or TS < or =2.5 ms/RR) was found in 42% of SSc patients. Moreover, SSc duration correlated negatively with values of TS (r = -0.3; P = 0.045). HRT did not differ between diffuse and limited SSc groups. All estimated time- and the majority of frequency-domain values of HRV parameters in SSc were significantly lower than in controls. Significant correlations were also demonstrated between HRT and HRV parameters. CONCLUSIONS HRT, like HRV assessment, indicates a frequent impairment of the cardiac autonomic nervous system in SSc patients, irrespective of the SSc type.

Can pemphigoid be provoked by lisinopril

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Terbinafine-induced subacute cutaneous lupus erythematosus in two patients with systemic lupus erythematosus successfully treated with topical corticosteroids

So far in the literature there have been reported only 5 patients with a recognized and well-documented history of systemic lupus erythematosus (SLE) who developed SCLE after terbinafine introduction. Here we report two women suffering from SLE who developed SCLE after initiation of oral terbinafine for onychomycosis. Skin lesions in both of them were extensive, located on the trunk, and upper and lower extremities. No exacerbation of SLE symptoms was observed at that time. Despite severe skin lesions, patients revealed good response to topical corticosteroids within a few weeks. The systemic review of the literature and our experience on terbinafine-induced SCLE developing in patients with SLE allowed to create a description for this special subset: a) terbinafine-induced SCLE usually develop in 1–8 weeks after terbinafine introduction, b) skin lesions are usually severe, disseminated including lower extremities, c) patients present Ro/SS-A La/SS-B antibodies, but anti-histone antibodies are rarely observed, d) exacerbation of SLE symptoms is rather not observed, e) eruptions clear within 2–8 weeks, f) withdrawal of terbinafine and topical corticosteroids should be considered as a first-line therapy in these cases, g) terbinafine should be carefully used in patients suffering from SLE.

The EVER genes – the genetic etiology of carcinogenesis in epidermodysplasia verruciformis and a possible role in non-epidermodysplasia verruciformis patients

In recent years, the two adjacent novel EVER1 and EVER2 genes have been identified, whose mutations are responsible for the development of epidermodysplasia verruciformis (EV). Epidermodysplasia verruciformis is a rare, autosomal recessive genodermatosis associated with increased risk of skin carcinoma. Up to now 7 mutations in the EVER1 gene and 5 mutations in the EVER2 gene have been identified only in EV. It was also determined that the EVER genes belong to a novel gene family, the transmembrane channel-like (TMC) family, and are responsible for properly functioning zinc homeostasis. These observations have given new insights into EV pathogenesis.

Systemic involvement in localized scleroderma/morphea

Localized scleroderma (LoSc), also known as morphea, is a rare fibrosing disorder of the skin and underlying tissues. Sclerosis is mainly limited to the skin, but subcutaneous tissue, fascia, and underlying muscles and bone may also be involved. In some cases, systemic manifestation with visceral abnormalities may occur. Several publications have focused on significant aspects of LoSc: genetics, immunity, epidemiology, scoring systems, and unification of classifications. Clinical studies featuring large cohorts with the disease published by various international study groups have been of great value in furthering the diagnostic and therapeutic management of LoSc.

Measuring of quality of life in autoimmune blistering disorders in Poland. Validation of disease – specific Autoimmune Bullous Disease Quality of Life (ABQOL) and the Treatment Autoimmune Bullous Disease Quality of Life (TABQOL) questionnaires

PURPOSE Autoimmune bullous dermatoses (AIBD) are rare, severe diseases resulting from some antibodies activity against the different adhesion structures within the skin and/or mucosa. Few studies investigated quality of life (QOL) in AIBD by generic and dermatology-specific instruments, all reporting strong impact on QOL. Recently, disease-specific measurement tools have been developed: Autoimmune Bullous Disease Quality of Life (ABQOL) and Treatment of Autoimmune Bullous Disease Quality of Life (TABQOL) questionnaires. The aim of this study was to test the reliability and validity of ABQOL and TABQOL by developing the first foreign language versions and to evaluate ABQOL and TABQOL in Polish patients. MATERIAL AND METHODS The study enrolled 80 patients from the tertiary referral center for AIBD at the outpatient clinic or on admission to the hospital. Sixty six patients completed the 17-item questionnaires of each ABQOL and TABQOL at day 0 and after 5-7 days. Both questionnaires were translated into Polish according to protocol. RESULTS The internal consistency and test-retest reliability were high (Cronbach α=0.95 for ABQOL, α=0.87 for TABQOL), (R=0.98 for ABQOL, R=0.86 for TABQOL). In convergent validity, the correlation of ABQOL and TABQOL was strong (R=0.81), but low with objective disease activity scales. The strongest impact of AIBD on QOL has been observed in flares and in patients with the onset below 70 years of age. The patients with bullous pemphigoid had the highest QOL compared to other AIBD patients. CONCLUSIONS The ABQOL and TABQOL are reliable and valid instruments for the assessment of QOL in AIBD.

Efficacy and safety of perilesional/intralesional triamcinolone injections in oral mucous membrane pemphigoid.

DEAR EDITOR, Mucous membrane pemphigoid (MMP) is a heterogeneous group of autoimmune blistering disorders characterized by linear deposition of IgG and/or IgA along the epidermal basement membrane zone (BMZ). Typically the disease affects mucous membranes such as the oral mucosa (the most frequent site), resulting in subsequent scarring. Treatment is always challenging, especially in elderly patients who have additional internal problems. In general, systemic corticosteroids plus an adjuvant immunosuppressive therapy, dapsone, or tetracycline plus nicotinamide are recommended. In MMP confined only to the oral mucosa and with low risk of progression, topical corticosteroids are the first-line treatment. Here we report four patients with MMP who were successfully treated with perilesional/intralesional triamcinolone injections (PITA). We enrolled into the study four of the 30 patients with MMP who have been diagnosed and treated in our department during the last 7 years. The inclusion criteria were erosions limited to the oral mucosa only, no response to topical corticosteroids with 2 months of therapy, and contraindications to systemic immunosuppressive therapy. Immunologically, all of the patients presented in vivo bound IgG and C3 along the BMZ in direct immunofluorescence. Indirect immunofluorescence and immunoblot with numerous sources of BMZ antigens were negative for IgG and IgA in all patients. The enzyme-linked immunosorbent assay results were negative. The final diagnosis was established on the basis of laser scanning confocal microscopy results. Biopsies (3 mm) were taken from a perilesional normal-appearing mucosal lesion. The clinical, immunological and therapeutic characteristics of the patients are presented in Table 1. Case 1 is a 65-year-old woman with MMP who presented with a 5-year history of oral erosion (Fig. 1a). She was initially treated with prednisone 60 mg per day (1 mg kg ) and topical fluocinonide 0 025% gel. Treatment was successful, but tapering of systemic corticosteroids induced relapse of MMP.

Mantle cell lymphoma with skin involvement

Mantle cell lymphoma (MCL) is a rare disease of the lymphomatoid system arising from mature B lymphocytes and comprises 3–10% of all non-Hodgkins lymphoma subtypes and typically involves lymph nodes. According to the guidelines of the World Health Organization-European Organization for Research and Treatment of Cancer (WHO-EORTC), the diagnosis of MCL should be established on the basis of morphological examination and immunophenotyping with detection of cyclin D1 protein overexpression and/or chromosomal translocation t(11,14)(q13;q32) of the CCND1 gene [1]. Histologically MCL is composed of diffuse or nodular proliferations of B lymphocytes in the mantle zone of lymphoid follicles in lymph nodes with characteristic immunophenotypical pictures positive for B-cell markers, like CD79a, CD19, CD20, CD22 and CD5 as well as usually negative for CD10, CD23 and bcl-6. The blastoid variant of MCL develops in 10–30% of patients with classic MCL [2]. This type of lymphoma joints two inauspicious clinical features: incurability and quick progression. At the time of diagnosis, the disease is usually in the advanced stage with a frequent generalized lymphadenopathy, splenomegaly and the bone marrow, blood or gastrointestinal involvement (stage III, IV in Ann Arbor scale) [3]. The disease generally involves lymph nodes but primary extranodal localization may also occur especially in the bone marrow, spleen, gastrointestinal tract and Waldeyers ring. In the classification of WHO-EORTC, mantle cell lymphoma is listed as an extracutaneous lymphoma secondarily involving the skin. However, skin involvement, if present, is usually common in the widespread disease [4]. The primary skin involvement in MCL is extremely rare and controversial [5].

Possible association between actinic keratosis and the rs7208422 (c.917A→T, p.N306l) polymorphism of the EVER2 gene in patients without epidermodysplasia verruciformis

Mutations of the EVER1 and EVER2 genes cause epidermodysplasia verruciformis (EV), a genodermatosis associated with squamous cell carcinoma (SCC). Recently, it has been found that the rs7208422 (c.917A→T, p.N306l) polymorphism in the EVER2 gene is related to an increased risk of SCC in patients with conditions other than EV. We hypothesized that this polymorphism might be also associated with actinic keratoses (AK).

Tetracycline, nicotinamide, and lesionally administered clobetasol as a therapeutic option to prednisone in patients with bullous pemphigoid: a comparative, retrospective analysis of 106 patients with long-term follow-up

Bullous pemphigoid (BP) is an autoimmune blistering disease associated with preexisting comorbidities and higher mortality. The interest in using therapy other than oral steroids in BP management results from severe complications and increased risk of death. The efficacy of oral doxycycline or whole‐body application of topical clobetasol has been proven in randomized controlled trials. The case series study suggested that combination of tetracycline, nicotinamide, and lesionally administered clobetasol may also be useful.