Acta dermatovenerologica Croatica : ADC最新文献

Aging is a continuous and irreversible process which affects the skin. Skin aging, which is the result of changes in the function and structure of the dermis, is characterized by thinning, drying, and loss of elasticity. It significantly adversely influences the role of the skin as a barrier against all aggressive exogenous factors. Herein, skin aging is reviewed in terms of clinical, pathological, etiopathogenic, and molecular aspects.

Mastocytosis is a rare disorder characterized by the accumulation of abnormal mast cells in various tissues. The World Health Organization recognizes three disease types: cutaneous mastocytosis, systemic mastocytosis and mast cell sarcoma. (1) Urticaria pigmentosa, a type of cutaneous mastocytosis is the most common form of mastocytosis and manifests as red-brown macules or papules on the skin. While typically benign, systemic involvement may occur, necessitating further evaluation. Clinical manifestations primarily arise from mast cell degranulation and include diarrhea, nausea, vomiting, syncope, hypotension, osteomuscular pain, osteoporosis, anaphylaxis and neuropsychiatric disturbances. A 21-year-old female presented to the emergency room following a loss of consciousness lasting about a minute that followed palpitations and blood pressure of 65/42 mmHg. All her vital parameters, ECG and laboratory tests were within normal limits. The patient's medical history revealed dyspepsia and syncopal episode about a month earlier, which was preceded by drowsiness and lips cyanosis. In the following days, extensive cardiological evaluation including ECG Holter, ergometry, echocardiography and heart MRI was performed but did not reveal an underlying cause for the syncopal episodes. Ten months later, the patient presented to the Department of Dermatology and Venereology with a long-standing history of inducible urticaria, triggered by exposure to heat, cold, and mechanical pressure. Physical examination revealed multiple brown-to-red hyperpigmented macules on the arms, thighs, and back (figure 1). Additionally, marked dermatographism and a positive Darier's sign were observed. Histopathological analysis of a skin lesion biopsy demonstrated an abundance oval to cuboid cells with granulomatic metachromasia in the dermis as identified by Giemsa stain, while immunohistochemical analysis demonstrated CD117 positivity in mast cells confirming the diagnosis of urticaria pigmentosa. Further diagnostic assessments revealed mildly elevated serum tryptase levels (14 ng/mL) and genetic testing detected the KIT(D816V) mutation in peripheral blood cells. Other laboratory investigations were unremarkable, as well as liver and spleen ultrasound findings. The patient refused bone marrow biopsy to assess systemic involvement, but continues to undergo annual follow-up testing. She was counseled to avoid known triggers such as temperature extremes, emotional stress, alcohol and medications associated with mastocyte degranulation. Additionally, she was advised to carry an epinephrine auto-injector for emergency management of anaphylaxis. When evaluating syncope, it is crucial to consider systemic conditions beyond primary cardiovascular and neurological causes. Identifying dermatological signs such as urticaria pigmentosa can significantly shorten the diagnostic timeline, leading to earlier intervention and improved patient outcomes.

Collagen is a crucial protein found in bones, muscles, skin, and tendons that provides strength and elasticity to tissues. It is obtained from sources such as marine organisms, cows, pigs, and chickens and is widely used in medicine and cosmetics. Hydrolyzed collagen peptides in the form of powder or liquid are typically used in food supplements. Marine collagen, produced from fish skin, is considered a high-quality source of collagen in food supplements. Research suggests that supplementation of hydrolyzed collagen improves skin hydration, elasticity, and collagen content. UV radiation, aging, and environmental toxins lead to the breakdown of collagen, causing wrinkles, dryness, and reduced elasticity. Excessive sun exposure should be avoided to boost collagen production. However, collagen supplementation has potential risks, including allergies and product quality. Oral supplements based on hydrolyzed collagen show promising results for the health and well-being of the skin, especially when sourced from marine collagen.

Raynaud's phenomenon (RP) presents as acral skin pallor, cyanosis, and erythema, usually after cold exposure or emotional stress. Symptoms of RP affect 3-5% of the general population, with the incidence four times higher in women than in men. Paraneoplastic RP is extremely rare and is thought to involve plasma hyperviscosity and blood hypercoagulability, which are present in patients with malignant diseases. Paraneoplastic RP often presents abruptly and, besides changes in skin color, it includes erosions, ulcerations, and necrosis, resulting in severe pain. We present a case of a 62-year-old female patient who suddenly developed symptoms of RP, characterized by periodic skin pallor without erosions or associated pain in all fingers, lasting 10-15 minutes after cold exposure. She was diagnosed with uveal melanoma three months prior and was also in a 14-year remission from invasive ductal carcinoma. Investigations confirmed positive antinuclear antibodies (ANA) with PCNA (proliferating cell nuclear antigen) and myositis-specific antibodies including anti-Jo, anti-mitochondrial antibody (AMA-M2), and anti-benzylpenicilloyl antibody (BPO).

Monkeypox is a viral zoonosis belonging to the genus Orthopoxvirus. Until now, cases of monkeypox were mostly isolated to endemic areas, however, many cases that do not even mention travel to the countries of Central and West Africa have appeared throughout Europe in the past year. The virus manifests itself as an outbreak of skin lesions followed by a general infectious syndrome. The frequent occurrence of skin lesions concentrated around the anogenital region was also seen in patients belonging to the MSM (Men Who Have Sex with Men) population, who admitted risky sexual relations. In this paper, we have presented a 28-year-old man who came to the University Clinical Center of Vojvodina with skin lesions in the genital area and was diagnosed with monkeypox infection by PCR multiplex from the lesions. The main goal of this case report is to determine the way the virus is transmitted and its clinical manifestations, to show diagnostic methods, as well as possible prevention measures and treatment options.

Acquired ichthyosis (AI) is a clinical condition associated with keratinization defects, characterized by accumulation of cutaneous scales, with or without epidermal proliferation and inflammation of the dermis. With this report, we want to present the case of a 58-year-old man who referred to our clinic with severe and diffuse scaling of the skin associated with irrepressible itching, unresponsive to oral antihistamines. After our diagnosis of acquired ichthyosis, we subjected him to diagnostic investigations aimed at identifying the triggering cause. After performing laboratory tests and radiographic investigations, the diagnosis of pulmonary tuberculosis (TBC) emerged. The treatment of the underlying TBC initially did not improve the patient's clinical condition, but after the interruption of treatment with isoniazid, the cutaneous involvement resolved. In literature, to date, there is poor scientific evidence of tuberculosis-related and isoniazid-related ichthyosis; moreover, some of those patients had a concomitant history of solid tumors (long associated with acquired ichthyosis), which makes it more difficult to identify the triggering cause among many.

Artificial intelligence (AI), an epic frontier in biomedical research, can potentially lead to a paradigm shift in many fields. AI is rapidly reshaping innumerable areas, including that of dermatology, both as a disruptive and assistive technological force. If used properly, AI will be grounded as an effectual tool to be leveraged by physicians in their patient care, enabling optimal diagnostic and treatment outcomes. Skin cancer is among the most prevalent cancers globally, with increasing incidence. AI-based technologies have emerged in recent times to precipitate successful diagnosis of cutaneous malignancies. Here, we review recent advances of AI in dermatology and dermatopathology, its applications in diagnosis, its impact on clinical investigations, usability limitations, and future potential.

Background: Pemphigus is identified by the intercellular deposition of immunoglobulin IgG on direct immunofluorescence (DIF) within skin, hair follicles, and oral mucosa. The objective of this study was to evaluate the diagnostic accuracy of DIF in hair, oral mucosal scrapes, and Tzanck smears, with DIF of skin serving as the reference standard.

Materials and methods: This cross-sectional observational study included patients with clinically suspected pemphigus (n=70) selected through non-probability sampling and compared them with age-matched controls (n=70) who had non-pemphigus bullous lesions. All participants underwent Direct Immunofluorescence (DIF) of hair, oral mucosal scrapes, and Tzanck smears following histopathological examination. The sensitivity, specificity, diagnostic accuracy, and area under the receiver operating characteristic curve (ROC) were calculated.

Results: Of the 70 clinically suspected cases of pemphigus, histopathology confirmed 64 cases (91.4%) as pemphigus vulgaris and 6 cases (8.6%) as pemphigus foliaceus. Perilesional skin biopsy showed a fish net pattern (intercellular IgG deposition) in 100% of pemphigus cases. DIF of the outer root sheath of scalp anagen hair demonstrated this pattern in 94.3% of cases. Tzanck smears from fresh blisters showed pericellular membranous deposits on acantholytic cells in 69.3% of cases. Oral scrapes DIF indicated pericellular deposition around acantholytic cells in 65.7% of cases. Controls (n=4) also exhibited IgG intercellular deposition (fish net pattern) on DIF. ROC curve analysis revealed that hair DIF had a superior diagnostic accuracy (AUC = 0.968), compared to oral scrapes DIF (AUC=0.917) and Tzanck smear DIF (AUC=0.771), respectively.

Conclusion: DIF analysis of hair has superior diagnostic accuracy as compared to oral and tzanck smear.

Netherton syndrome (NS) is a rare autosomal recessive disorder caused by SPINK5 mutations, leading to LEKTI deficiency and skin barrier dysfunction. It manifests as ichthyosis, trichorrhexis invaginata (bamboo hair), and atopic diathesis, including food allergies, asthma, and elevated IgE levels. Early genetic testing is key for accurate diagnosis and treatment. We report a case of a two-year-old girl initially diagnosed with atopic dermatitis, presenting with severe, persistent skin issues from infancy. The symptoms included dry, scaly, and inflamed skin, along with elevated IgE levels and polysensitization to food allergens. Trichorrhexis invaginata was identified, and genetic testing confirmed NS. Despite treatments with corticosteroids and emollients, the patient continued to experience flare-ups, leading to the use of biological therapy, specifically secukinumab, due to persistent skin barrier dysfunction. NS is often misdiagnosed due to its overlap with atopic dermatitis, especially in early stages. Mutations in SPINK5 vary in severity, influencing treatment outcomes. Current therapies, including corticosteroids, emollients, and immunomodulators, provide limited relief. New treatments like IVIG, retinoids, and biologics (e.g., secukinumab, dupilumab) show promise in managing inflammation and restoring the skin barrier, with secukinumab targeting IL-17A showing significant improvements. The psychosocial impact of NS affects the patient's quality of life, causing anxiety, social withdrawal, and family stress. Early genetic testing, targeted therapies, and psychosocial support are crucial for managing NS. Future research should focus on improving genetic testing accessibility, optimizing combination therapies, and addressing psychosocial challenges.