The CYP2C9 gene is related to the metabolism of several non-steroidal anti-inflammatory drugs (NSAID). Presence of different allele polymorphisms is associated with lack of enzyme activity and can lead to therapeutic failure. The aim of our study was to provide data about the distribution of CYP2C9 alleles in voluntary donors from the Macedonian Bone Marrow Donor Registry (MBMDR) and to calculate the activation score (AS) of CYP2C9 enzyme. We analyzed samples of 25 voluntary bone marrow donors by multiplex real-time polymerase chain reaction (PCR) test for detection of CYP2C9*2 and *3 polymorphisms. The samples were analyzed with 7500 Real-Time PCR System with FAM, VIC, ROX and Cy5 filters. We identified 13 donors with *1*1 diplotype, 7 with *1*3 diplotype, 4 with *1*2 diplotype and 1 donor with *2*3 diplotype. According to the calculated AS, 13 out of 25 individuals (54%) had normal AS value of 2, which refers to normal metabolizers (NMs). Eleven donors (44%) had AS value of 1-1.5, which refers to intermediate metabolizers (IMs) and only one donor (4%) had AS value of 0.5 which refers to poor metabolizer (PM). Even though the number of donors in our study is small and the results need to be evaluated in a larger cohort, it shows that different genotypes in the CYP2C9 gene are present among donors from MBMR. It is important to have it in mind especially when using NSAIDs that can be bought over-the-counter.

Background: In elderly patients with hypoalbuminaemia, hypoproteinaemia and advanced-stage PUs, chronic inflammation and wound-related protein loss contribute to a self-perpetuating circulus vitiosus, in which protein depletion drives deterioration of tissue repair processes, and in turn, ongoing wound-related catabolism further amplifies systemic protein loss. In this context, reduced serum albumin and total protein represent integrated indicators of systemic inflammatory and catabolic burden associated with delayed wound healing. Aim: This study evaluated the association between individualized nutritional replacement therapy and pressure ulcer healing in malnourished geriatric and palliative patients, using serum albumin, total protein, and PUSH score as longitudinal outcome indicators. Methods: A total of 78 malnourished geriatric and palliative patients with PUs, multiple comorbidities, and poor nutritional status (hypoalbuminemia and/or hypoproteinaemia) receiving patient-tailored nutritional replacement therapy participated in this study. PU assessment using the PUSH version 3.0 tool, as well as measurements of serum albumin and total protein concentrations, were performed on days 0, 30, 60, and 90. Results: Our study demonstrates significant improvement in the serum albumin levels, from 30.2 ± 6.19 at baseline to 42.1 ± 5.59 at day 90. Similarly, total protein concentrations increased from 57.8 ± 9.66 at baseline to 70.6 ± 7.03 at day 90. The improvement in protein status was accompanied by a significant reduction in the PUSH score, from 10.9 ± 2.94 at the first assessment to 2.9 ± 2.63 at the final assessment. Spearman’s rank-order correlation analysis between serum albumin, total protein, and PUSH score demonstrated a significant moderate inverse correlation at later assessment points (day 60 and 90). Conclusions: Individualized and targeted replacement therapy was associated with improved protein status and reduced pressure ulcer severity. Increases in serum albumin and total protein paralleled a marked reduction in PUSH scores, suggesting attenuation of the inflammatory-catabolic circulus vitiosus and a progressive shift toward wound healing in geriatric and palliative patients.

Mutations in the set of genes responsible for adequate development and function of the immune system also affect the skin-associated lymphoid tissue (SALT). As a result of inborn genetic errors, patients develop one of the 430 different primary immunodeficiencies defined to date. Globally, nearly 6 million people are living with a primary immunodeficiency, with an estimated incidence of 1 case per 10.000 inhabitants. Despite modern and accessible diagnostic technologies, patients still receive delayed diagnoses. We conducted a search for original articles, review articles, and case reports published in scientific journals available in the PubMed database by using the following keywords: primary immunodeficiency AND eczematous rash OR skin manifestations. This review article mainly focuses on skin manifestations of primary immunodeficiencies with eczematous rash. Keywords: primary immunodeficiency, eczematous lesions, skin manifestations, Wiskott-Aldrich Syndrome, Autosomal dominant hyper-IgE syndrome, Autosomal recessive hyper-IgE syndrome, Comèl-Netherton syndrome, Omenn syndrome, IPEX syndrome.

Chemical vitiligo is an underdiagnosed form of skin depigmentation caused by repeated chemical agent exposure, affecting both adults and children. Chemical vitiligo is also called chemical leucoderma, contact vitiligo, and/or occupational vitiligo. Most of the implicated chemical agents are derivates of phenol and catechol, which have melanotoxic effects in individuals with genetic susceptibility. The diagnosis of chemical vitiligo is based on the medical history and patch testing, as histopathology is usually inconclusive and cannot differentiate chemical from idiopathic vitiligo. Patients typically report multiple exposures to specific melanotoxic or depigmenting chemical substances, either in the household or at the workplace, followed by the appearance of diffuse confetti-like and/or pea-sized hypopigmented macules, usually on the face, hands, and feet. The widespread distribution of hypopigmented macules is often the result of sensitization, autotransfer, or heterotransfer of the chemical agent from the primary site of contact. Later, the clinical suspicion of chemical vitiligo can be confirmed with the patch test. Once the diagnosis is established, the patient should be advised to avoid the incriminated chemical agent. In some cases, when spontaneous repigmentation does not occur, additional treatments are recommended, such as ultraviolet B phototherapy, photochemotherapy, and topical immunosuppressants.

Primary cutaneous lymphomas are a heterogeneous group of hematologic malignancies originating from the T-cells or B-cells residing within the human skin. More than two-thirds (70-85%) of cases are diagnosed as cutaneous T-cell lymphomas (CTCL) with Mycosis fungoides and Sézary syndrome being the most notable. CTCL have an annual incidence of 10 cases per 1 million, with a predominance to males over the age of 50 (male-to-female ratio of 2:1). Here, we present a case of a 54-year-old female who presented with persistent and generalized hyperpigmentation, later evolving into Sézary syndrome. Initially, the patient was reffered to the University Clinic for Dermatology in Skopje, due to a five-month medical history of persistent pruritus and hyperpigmentation. Based on the clinical presentation and skin biopsy findings consistant with non-specific dermatitis, she was diagnosed as having atopic dermatitis and underwent treatment with topical steroids and emollients. However, the clinical presentation got worsen in the following six months, and evolved into generalized melanodermia with ulcerated tumor growths. In order to conclude the final diagnosis, a biopsy of the skin lesions was performed with histopathological findings consistent with Sézary syndrome. Following this diagnosis, the patient was referred to the University Clinic for Hematology in Skopje for further treatment.