Kaja Męcińska-Jundziłł

Current aspects of vitiligo genetics

Vitiligo is a common acquired depigmentation disorder of the skin manifested by the presence of white macules. The disease occurs at a frequency of approximately 1–4% of the world population. Currently, the most popular theory of vitiligo development is a multifactorial hypothesis according to which genetic conditions predispose vitiligo macules to occur as a result of specific environmental factors. According to the genetic hypothesis, vitiligo inheritance is multigenic. Genetic studies conducted so far concern patients with non-segmental vitiligo. There are three basic techniques of genetic studies: candidate gene association studies, genomewide linkage studies and genome-wide association studies (GWAS). The GWAS are the “gold standard” for detecting susceptibility genes. Up to now, approximately 36 convincing non-segmental vitiligo susceptibility loci have been identified. Approximately 90% of them encode immunoregulatory proteins, while approximately 10% encode melanocyte proteins. The existence of various associations between vitiligo and other autoimmune diseases may provide new knowledge on the causes of many disorders. Examples include the inverse relationship between vitiligo and melanoma and association of vitiligo with other autoimmune diseases. The main goal of all researches is to find new, optimal therapeutic strategies for vitiligo and other autoimmune diseases.

Stem cells and differentiated cells differ in their sensitivity to urine in vitro

Urinary tract regeneration using tissue engineering is one of the most challenging issues in the field of reconstructive urology. Cells seeded on scaffold are exposed to urine immediately after the implantation. The outcome of urinary bladder regeneration is depended on the ability of these cells to survive, proliferate, and regenerate. The aim of this study was to compare a sensitivity of three different cell lines to urine in vitro. Three different cell lines were isolated from porcine bladder (urothelial cells, UCs and smooth muscle cells, SMCs) and adipose tissue (adipose‐derived stem cells, ADSCs). Cell viability (MTT assay), proliferation (real‐time cell analysis using xCELLigence system) and apoptosis/necrosis (flow cytometry) were analyzed after exposition to urine. ADSCs were the most sensitive to urine compared to two other tested cell lines. Among the bladder cell lines the UCs were more resistant to urine than SMCs. Twenty four hour incubation of UCs, SMCs, and ADSCs with urine lead to ∼40%, ∼70%, and ∼90% reduction of their viability, respectively. The mechanism of urine mediated cytotoxicity differed depending on the tested cell type. Urothelial and SMCs seems to be more suitable for urinary bladder regeneration compared to mesenchymal stem cells, however, these cells have limited application especially in the case of urinary bladder cancer.

Photosensitive pityriasis rubra pilaris

Pityriasis rubra pilaris (PRP) is a rare, chronic papulosquamous skin disorder. The skin lesions rarely have a predilection to sun-exposed areas although it is known that natural sunlight and phototherapy can exacerbate PRP [1–4]. We present a case of a patient suffering from pityriasis rubra pilaris with photoexposed distribution and photosensitivity exclusively to UVB objectively detected by phototesting, successfully treated with methotrexate.

Imaging in a rare case of neuroendocrine tumour with skin metastases

Purpose Disseminated malignancies are a diagnostic and therapeutic challenge that is often encountered in radiology. Finding the primary tumour is crucial for planning proper surgical and oncological treatment. Computed tomography (CT) of the thorax and abdomen is typically the initial examination. However, abdominal magnetic resonance imaging (MRI) or positron emission tomography (PET/CT) or PET/MRI are often subsequently performed. Histopathological examination of metastatic tumours is performed as well, followed by immunohistochemistry. The aim of the report was to present diagnostic workup in a rare case of skin metastases. Case report A 72-year-old patient was admitted to a dermatology ward because of skin lesions – violaceous nodules localised on the hair-covered skin of the head. On abdominal CT, a generalised neoplastic process with metastases in the liver, pancreas, adrenal glands, lymph nodes, bones, thoracic wall, and a suspected metastasis in the right breast was revealed. Histopathology of the skin nodules confirmed a neuroendocrine tumour. Metastases of a pancreatic neuroendocrine tumour or small-cell lung cancer were suspected on immunohistochemistry. The patient died before we were able to localise the primary source of the tumour and provide treatment. Conclusions Skin metastases are relatively rare, aggravate the prognosis, and usually indicate spread of the neoplastic process in the internal organs. It is not always possible to localise the primary tumour using radiological imaging. In such cases, co-operation with the pathologist is crucial as are the results of histopathological and immunohistochemical examinations.

Folliculitis decalvans and orofacial granulomatosis

Folliculitis decalvans (FD) is a rare and chronic inflammatory dermatosis which pathogenesis remains unclear. It is classified as primary neutrophilic cicatricial alopecia presented clinically with follicular pustules and papules, hemorrhagic crusts, erosions and scarring within scalp. Orofacial granulomatosis (OFG) is a recurrent or persistent orofacial swelling histopathologically presented with non-caseating granulomas. The etiology of the disease is not fully understood. There are hypotheses concerning pathogenesis of the disease including genetic, allergic, infectious and immunological factors. We report a case of a patient with FD and concomitant orofacial granulomatosis successfully treated with dapsone. A 32-year-old man was admitted to the Department of Dermatology to diagnose follicular pustules, erosions, yellow scales, crusts with scarred areas and focal hair loss within the scalp, especially within vertex and accompanying persistent lip swelling with normal appearance of the tongue and no oral lesions (Figure 1). Moreover, we observed erythrosquamous lesions and papules on the lateral surfaces of the trunk, within groins and armpits. The lesions on the scalp occurred in childhood and the lip swelling persisted for 3 years. Except skin eruptions the patient did not report any other complaints. He was initially treated in another clinic for seborrheic dermatitis and acne inversa topically with antibiotics, glucocorticosteroids, tacrolimus and orally with antibiotics (doxycycline), antihistamines with temporary improvement. The patient suffered from post-traumatic epilepsy and was treated with carbamazepine. He had a craniotomy due to head injury (concussions and subdural hematoma of the left temporo-parietal brain region, basilar skull fracture and squamous part of the right temporal bone fracture) during the traffic accident 20 years earlier. During the hospitalization routine laboratory tests showed an elevated C-reactive protein level and erythrocyturia which occurred to be irrelevant (the patient was consulted by the urologist). Swabs from erosions and pustules were collected and two types of bacteria were cultured – Staphylococcus aureus and Streptococcus agalactiae. To exclude concomitant systemic diseases, we performed additional examinations. There were no abnormalities in abdominal ultrasonography or chest X-ray. Antinuclear antibodies, lupus anticoagulant, cardiolipin antibodies (IgG and IgM), b2-glycoprotein 1 antibodies (IgG and IgM), anti-Borrelia spp. antibodies tests (IgG and IgM), concentration of C1 esterase inhibitor and Quantiferon-TB Gold test in patient’s serum were negative or within normal

Plane warts on the back of the hand successfully treated with oral isotretinoin

Address for correspondence: Agnieszka Białecka MD, Chair of Dermatology, Sexually Transmitted Diseases and Immunodermatology, Faculty of Medicine, Nicolaus Copernicus University, 9 Skłodowskiej-Curie St, 85-094 Bydgoszcz, Poland, phone: +48 696 557 558, +48 535 854 568, e-mail: agnieszka_bialecka@wp.pl Received: 13.07.2017, accepted: 24.08.2017. Plane warts on the back of the hand successfully treated with oral isotretinoin

Properties of skin stem cells and their potential clinical applications in modern dermatology

Stem cells play an important role in medical science, and scientists are investing large sums in order to perform sophisticated studies designed to establish potential clinical applications of stem cells. Growing experience has enabled researchers to determine the precise nature of stem cell division. Although the properties of this particular population of cells have been known and used for some time, mainly with regards to bone marrow-derived mesenchymal stem cell transplantation, we now face a significant challenge in implementing the practical use of skin-derived precursors, making it possible to avoid the necessity for patients to undergo invasive procedures in order to obtain stem cells from bone marrow. Multiple trials have so far been performed, bringing hope for the treatment of disorders previously considered untreatable. Patients suffering from a number of dermatological diseases, including malignant melanoma, systemic lupus erythematosus, vitiligo, alopecia or junctional epidermolysis bullosa, may benefit from treatment based on stem cells. The aim of this review is to summarize available data on stem cells and their potential application in the treatment of dermatological disorders. Thework described is based on data published up to the end of September 2016.

Investigation of oxidative stress in patients with alopecia areata by measuring the levels of malondialdehyde and ceruloplasmin in the blood

Introduction Alopecia areata (AA) is a chronic, inflammatory and autoimmune disease, presenting with non-scarring hair loss. Although the precise etiopathogenesis of AA remains unknown, oxidative stress is thought to play a role. Aim To investigate the role of oxidative stress in AA by measuring the levels of plasma and erythrocyte malondialdehyde (MDA) and the ceruloplasmin (CER) in serum. Material and methods The study included 24 AA patients and a control group consisting of 24 age- and sex-matched healthy volunteers. The levels of MDA and CER were measured and compared between groups. Results Plasma MDA levels were significantly higher (p < 0.05) in patients with AA compared with controls. No significant difference was observed in MDA erythrocyte levels (p = 0.990) between the study group and the control group. Ceruloplasmin level was higher in the AA group, but this increase was not statistically significant (p = 0.156). Conclusions Patients with AA displayed significant plasma MDA levels, which could lead to damage in erythrocytes exposed to high concentrations of free radicals. These results demonstrate the presence of an imbalance in the oxidant-antioxidant system and support the concept of a possible role of oxidative stress in AA etiopathogenesis.

Pyoderma gangrenosum mimicking inflammatory breast cancer

Address for correspondence: Agnieszka Białecka MD, Chair of Dermatology, Sexually Transmitted Diseases and Immunodermatology, Faculty of Medicine, Nicolaus Copernicus University, 9 Skłodowskiej-Curie St, 85-094 Bydgoszcz, Poland, phone: +48 696 557 558, +48 535 854 568, fax: +48 52 585 40 18, e-mail: agnieszka_bialecka@wp.pl Received: 2.08.2016, accepted: 5.09.2016. Pyoderma gangrenosum mimicking inflammatory breast cancer

Skin dissemination of myeloma

1Chair of Dermatology, Sexually Transmitted Diseases and Immunodermatology, Faculty of Medicine in Bydgoszcz, Nicolaus Copernicus University in Torun, Poland 2Department of Clinical Pathomorphology, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Torun, Poland 3Department of Hematology, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Torun, Poland 4Department of Plastic, Reconstructive and Aesthetic Surgery, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Torun, Poland