Search Results (174)

Inherited epidermolysis bullosa (EB) is a heterogeneous clinical entity that includes over 30 phenotypically and/or genotypically distinct inherited disorders, characterized by mechanical skin fragility and bullae formation. Junctional EB (JEB) is an autosomal recessive disease characterized by an intermediated cleavage level within the skin layers, commonly at the “lamina lucida”. Laryngo-onycho-cutaneous syndrome (LOC) is an extremely rare variant of JEB, characterized by granulation tissue formation in specific body sites (skin, larynx, and nails). Although most cases of JEB are caused by pathogenic variants occurring in the genes encoding for classical components of the lamina lucida, such as laminin 332 (LAMA3, LAMB3, LAMC2), integrin α6β4 (ITGA6, ITGB4), and collagen XVII (COL17A1), other variants have also been described. We report the case of a 4-month-old male infant who presented with recurrent bullous and erosive lesions from the first month of life. At the first dermatological evaluation, the patient was agitated and exhibited hoarse breathing, a clinical sign suggestive of laryngeal involvement. Multiple polygonal skin erosions were observed on the cheeks, along with similar isolated, roundish lesions on the scalp and legs. Notably, nail dystrophy and near-complete anonychia were evident on the left first and fifth toes. Due to the coexistence of skin erosions and nail dystrophy in such a young infant, a congenital bullous disorder was suspected, prompting molecular analysis of all potentially involved genes. In the patient’s DNA, clinical exome sequencing (CES) identified a pathogenic variant, apparently in homozygosity, in the exon 1 of the LAMA3 gene (18q11.2; NM_000227.6): c.47G > A;p.Trp16*. The presence of this variant was confirmed, in heterozygosity, in the genomic DNA of the patient’s mother, while it was absent in the father’s DNA. Subsequently, trio-based SNP array analysis was performed, revealing a paternally derived pathogenic microdeletion encompassing the LAMA3 locus (18q11.2). To our knowledge, this is the first reported case of JEB with a LOC-like phenotype caused by a maternally inherited monoallelic nonsense mutation in LAMA3, unmasked by an almost complete deletion of the paternal allele. The combined use of exome sequencing and SNP array is proving essential for elucidating autosomal recessive diseases with a discordant segregation. This is pivotal for providing accurate genetic counseling to parents regarding future pregnancies. Full article

Tinea incognito is an incorrectly diagnosed form of fungal infection due to a changed clinical picture as a result of systemic or topical corticosteroids or even local immunomodulators. This type of skin lesion is most often located on the trunk but can affect any part of the body. We present a case report of 76-year-old woman with a history of systemic lupus erythematosus who was admitted to hospital because of extensive, painful, and burning erythematous and papular lesions in an annular pattern, covered with a thick, yellow crust, located on the scalp and neck. The skin lesions were accompanied by extensive hair loss. The patient had previously undergone intensified treatment of the underlying disease due to the exacerbation of skin lesions of a subacute cutaneous lupus erythematosus type. A suspicion of tinea incognito was raised, and direct mycological examination and culture confirmed the presence of dermatophytes (Microsporum spp.). Tinea incognito can be difficult to diagnose because the clinical picture is relatively nonspecific and can mimic other dermatoses, such as subacute lupus erythematosus. Therefore, in doubtful cases it is necessary to perform a direct test and culture for fungal infection, especially before initiating treatment with glucocorticosteroids and other immunosuppressive agents. Full article

The expected cutaneous adverse effects (CAE) of oncology therapies can be disabling and even force the patient to discontinue treatment. The incorporation of cosmetics into skin care regimens (SCRs) as true therapeutic adjuvants can prevent, control, and avoid sequelae. However, cosmetics may also lead to adverse reactions in patients. The aim of our study was to assess the impact of the tolerability of cosmetics used in routine skin care on quality of life in this vulnerable population group through a survey. In addition, information was collected to improve the knowledge of the beneficial effects of cosmetics and the composition recommended. Hospital nurses guided the patients to fill in the surveys, which were done once. The main uses are related to daily hygiene care, photoprotection, and dermo-cosmetic treatment to prevent or at least reduce the skin’s adverse effects. More than 30% (36.36%) of patients perceived undesirable effects or discomfort with the use of cosmetics (27.27% in the facial area, 27.27% in the body and hands, and 22.73% in the scalp and hair). Intolerance was described for some soaps and creams used in the facial area. This study provides additional evidence on perceived tolerance supporting updates of clinical practice guidelines, highlights consolidated knowledge and evidence on the use of cosmetics, as well as new recommendations on the use and composition of cosmetics intended for oncological patients. There is a need for more knowledge about cosmetic ingredients and formulations, including ingredients of concern, such as endocrine disruptors. Full article

Background/Objectives: Epigallocatechin gallate (EGCG) is the most abundant catechin in green tea. Based on results from in vitro studies, EGCG—with its wide range of beneficial properties—has been considered a promising option for the treatment of patients with various skin conditions. Methods: The aim of this systematic review, conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, was to evaluate the efficacy and safety of EGCG in the treatment and prevention of various types of dermatitis. Results: A search of PubMed, Embase, CENTRAL, and ClinicalTrials.gov databases identified eight trials (including four randomized trials) that investigated the use of EGCG alone (as a saline solution) for the treatment and prevention of radiation-induced dermatitis or as a component of a shampoo or cream for atopic and seborrheic scalp dermatitis. The identified single-arm and randomized controlled trials were characterized by low methodological quality, were in early phases of development, and/or included a small number of participants. The topical effect of EGCG on the severity of dermatitis was shown to depend on the type of dermatitis, concentration, and pharmaceutical form used. The administration of EGCG resulted in a significant reduction in skin symptoms in patients with radiation-induced dermatitis compared with placebo and with baseline, while in seborrheic dermatitis of the scalp, the results of shampoo with EGCG component were similar to those of active conventional treatment. The EGCG treatment was generally well tolerated, with no serious treatment-related adverse events. Conclusions: This study showed that EGCG can be a promising option for the treatment and prevention of various types of dermatitis. However, due to the small sample size, large, well-designed, randomized phase III trials are needed to confirm its safety and efficacy. Full article

Background/Objectives: Integra Dermal Regeneration Template (IDRT) has emerged as a viable reconstructive option in exposed avascular structures, such as exposed bone devoid of periosteum. This systematic review aimed at examining success rates by comparing different wound types and their characteristics, as well as the surgical methods involved. Methods: A systematic review was conducted to identify studies using IDRT in the reconstruction of defects with exposed bone devoid of periosteum. Primary outcomes of interest were IDRT and skin graft success rates, followed by patient and wound characteristics, and different surgical methods used. The results were accompanied by an illustrative case report of IDRT-based hand reconstruction after a deep burn injury. Results: The review included 40 studies, with a total of 202 individual defects. The primary indication for IDRT-based reconstruction was post-oncologic defects in the elderly population. Although surgeons mostly used burring/fenestration as a bone preparation method prior to IDRT placement, decorticated bones showed faster grafting time (23.8 vs. 27.9 days). The average success rate of IDRT was 87.54% (±25.9), with an excellent IDRT take rate (100%) observed in more than 50% of cases. In the majority of cases (95.5%), the skin graft acceptance rate was deemed to be higher than 95%, with an average graft take of 98.8%. Conclusions: The results of this review support the use of IDRT in managing complex defects involving exposed bone, offering fast coverage with good functional restoration, without any donor site morbidity. Additionally, bone preparation methods also play an important role in IDRT-based reconstruction by shortening the grafting time. Full article

Cutaneous metastases from internal organ cancers are diagnosed in approximately 0.2% of skin biopsies. This diagnosis can be the first sign of a previously undiagnosed malignancy with an internal organ origin. We conducted a retrospective study that included all cases of cutaneous metastases diagnosed in our hospital. A total of 25 patients were identified (14 females and 11 males). The average age of the patients included was 62.3. The most common primary cancer site was the lung for male patients, while for female patients it was the breast. In seven of our cases, cutaneous metastases were the first sign of an internal organ cancer. Common sites for cutaneous metastases in our study involved the anterior thoracic wall, the abdomen, and the scalp. Our study aims to highlight the importance of recognizing the histopathology of metastatic tumors and differentiating them from primary skin neoplasms. Immunohistochemistry is a mandatory tool for differential diagnosis in all cases, especially for patients who do not have a history of neoplasia. Full article

Cutaneous fungal infections predominantly caused by dermatophytes are a global concern. These infections vary widely by region, age, and body site, with recent shifts in the pathogen distribution. This study examines the distribution and trends of superficial fungal infections in a large tertiary care center in Israel from 2019 to 2022. A retrospective analysis of 2244 patients with suspected fungal infections was performed, utilizing PCR and fungal cultures for diagnosis. Confirmed fungal infections were present in 53.0% of cases. In adults, infections predominantly affected the nails and feet, while in children, the scalp and nails were the most involved sites. Trichophyton rubrum was the most common pathogen overall, but T. tonsurans was the leading cause of scalp, face, and neck infections, as well as tinea corporis in children. T. tonsurans incidence significantly increased in adults and became the most frequent agent of upper-body tinea corporis by 2022. These findings highlight a shift in pathogen distribution, with T. tonsurans emerging as the leading cause of upper-body skin infections, underscoring the need for targeted prevention strategies and further investigation of its transmission routes. Full article

Background: Organ transplant recipients are at a significantly higher risk of developing skin cancer compared to the general population, particularly cutaneous squamous cell carcinoma. Approximately 3–8% of these carcinomas are located on the scalp. Scalp reconstruction is particularly challenging, especially for large excisions, due to the thickness of the scalp, the inelastic aponeurosis of the galea, and the integrity of the hair-bearing scalp. Additionally, in organ transplant recipients, the presence of numerous comorbidities and the increased risk of infection due to immunosuppressive therapy make management more complex. Based on our experience and the existing literature, we aim to describe possible reconstruction methods and discuss the combined management of medical and immunosuppressive therapy. Method: We present our experience with seven kidney transplant patients who underwent excision of cutaneous squamous cell carcinoma with a diameter larger than 3 cm. The crane technique involves three key steps. First, the tumor is excised with wide margins of disease-free tissue. Next, a pericranial flap is rotated and positioned to cover the exposed cranial bone. Finally, a bilayer dermal substitute is applied to create a microenvironment that supports skin graft implantation. Results: The crane technique was used for six patients. In one case, an O-Z rotation flap was used. All patients modified their immunosuppressive therapy, with those receiving antiproliferative therapy switching everolimus after surgery. Conclusions: When combined with a post-operative modification of the immunosuppressive regimen, the crane technique could be considered a feasible, safe, and effective approach to managing large cSCC of the scalp in fragile patients. Full article

Wound-induced hair-follicle neogenesis (WIHN) is the phenomenon of regenerating new hair follicles from wounds in mammals. The WIHN involves both developmental and adult wound-healing processes. Moreover, the WIHN is regulated by a variety of factors, particularly multiple molecular signaling pathways produced in several types of cells. Here, the role of multiple signaling in different types of cells in WIHN is comprehensively described. Furthermore, the lack of dermal γδ T cells in the human scalp has hindered the clinical application of WIHN, but the development of drugs such as Wnt signaling activators is increasing the effectiveness of WIHN in humans. Overall, understanding the underlying mechanisms that regulate WIHN may help treat skin diseases, including alopecia. Full article

Background/Objectives: Scalp defect reconstruction often poses a challenge due to the distinct anatomy and limited skin elasticity of the region. Rotational flaps, when properly planned, offer a superior and creative solution for effectively covering most scalp defects. The aim of this study is to present the indications, and versatile use of rotational flaps in scalp reconstructive surgery, guided by an algorithmic approach and exemplified by numerous clinical applications. Methods: An observational cohort study was conducted between 2019 and 2024. The study protocol adhered to the ethical guidelines of the Declaration of Helsinki, was approved by the local ethics committee, and followed the STROBE statement for cohort studies. Results: A total of 152 rotational flaps were performed in 138 patients to reconstruct scalp defects, mostly following skin cancer excision. The defect size ranged from 30 to 96 mm in largest diameter (mean diameter, 52.8 ± 8.8 mm). Postoperative complications occurred in 13 cases (9.4%), and 5 cases (3.6%) required further surgical treatment, due to wound healing problems and/or necrosis. Based on high VAS scores (9.4 + 0.3), the cosmetic outcomes were deemed satisfactory, with excellent color and texture matching. Conclusions: This study underscores the critical role of meticulous surgical planning and technique in achieving optimal outcomes in scalp reconstruction. By combining the principles of tissue biomechanics with the versatility of rotational flaps, surgeons can effectively address a wide range of defects, achieving both functional and esthetic excellence. Full article

Primary cutaneous adenoid cystic carcinoma (PCACC) isa rare skin malignancy first reported in the 1970s with limited number of cases found in the literature. These neoplasms are typically identified in middle-to-older-age individuals and are mostly located in the scalp and neck region but can identified throughout the body. We describe the case of a 67-year-old male patient that presented to our department with a slow-growing nodule in the left gluteal region that turned out to be a PCACC and analyze the differential diagnosis, radiology, histopathological findings and successful treatment with a wide local excision. Current literature on the subject is also presented and discussed. Full article

Hair follicle stem cells, located in the bulge region of the outer root sheath, are multipotent epithelial stem cells capable of differentiating into epidermal, sebaceous gland, and hair shaft cells. Efficient culturing of these cells is crucial for advancements in dermatology, regenerative medicine, and skin model development. This investigation aimed to develop a protocol for isolating enriched bulge-derived epithelial cells from scalp specimens to produce tissue-engineered substitutes. The epithelium, including hair follicles, was separated from the dermis using thermolysin, followed by microdissection of the bulge region. Epithelial stem cells were isolated using enzymatic dissociation to create a single-cell suspension and compared with the direct explant culture and a benchmark method which isolates cells from the epidermis and pilosebaceous units. After 8 days of culture, the enzymatic digestion of microdissected bulges yielded 5.3 times more epithelial cells compared to explant cultures and proliferated faster than the benchmark method. Cells cultured from all methods exhibited comparable morphology and growth rates. The fully stratified epidermis of tissue-engineered skin was similar, indicating comparable differentiation potential. This enzymatic digestion method improved early-stage cell recovery and expansion while maintaining keratinocyte functionality, offering an efficient hair bulge cell-extraction technique for tissue engineering and regenerative medicine applications. Full article

Background: We examined four potential challenges for the implementation of the European Union (EU) Regulation 2021/2282 on Health Technology Assessment (EU HTAR): interaction with the European Medicines Agency (EMA), expert input, the interface of European health technology assessment (EU HTA) joint procedures with those within Member States, and the management of conflict of interest. This research aims to explore how to address these challenges in a balanced manner and prioritise key actions for effective collaboration in the context of the EU HTA. Methods: The methodology included a pre-convention survey among relevant stakeholders as well as working groups and the plenary ranking of discussion outcomes at the European Access Academy (EAA) Spring Convention 2024. Results: In the survey, 65.5% of respondents indicated that experts are currently not sufficiently included in the upcoming joint scientific consultations and clinical assessments; only 37.9% suggested that the EU HTA joint procedures would accelerate national appraisal decision-making, and 58.6% believed that the principles of ‘transparency’ and ‘competency’ are balanced in the EU HTA position on conflict of interest. The top priority action points identified in the working groups were the involvement of the best available expertise, the early and inclusive involvement of experts, strengthened early scientific dialogue, and the fostering of the political willingness/financial support of EU Member States to increase capacities. Conclusions: The key topics identified were an approach to conflict of interest that balances transparency obligations and the need for expertise, strengthens the involvement of clinical and patient experts, intensifies early interaction between the EMA and EU HTA, and increases the involvement of the EU Member States. Full article

This study proposes a high-frequency Pulse Amplitude-Modulation Temporal-Interference (PAM-TI) current stimulation device, which utilizes two sets of Amplitude-modulated transcranial alternating current stimulation (AM-tACS): one AM frequency at f0 (where f0 = 2 kHz) (source 1) and the other AM frequency at f1 = f0 + $△$f (where f1 = 2.01 kHz) (source 2), to generate a $△$f (where $△$f = 10 Hz) envelope modulated at a fc (where fc = 100 kHz) high carrier frequency. The high carrier frequency reduces body impedance and conserves more stimulation power, allowing it to penetrate the skin and reach the subcutaneous region. The proposed PAM-TI technique elevates the two current sources to a 100 kHz carrier frequency. Instead of the challenges associated with generating high-frequency stimulation currents using an MCU and DAC, the proposed PAM-TI stimulation device achieves this by simply utilizing a pair of complementary pulse-width modulations (PWMs). The push–pull technique is employed to balance the charging currents between the anode and cathode, synchronizing the current timing of Source 1 and Source 2 under the fc modulation condition. To minimize signal attenuation, the PAM circuit is integrated directly into the electrode, ensuring the high-frequency signal is generated close to the body and preventing degradation from long wires. Additionally, a dry pin-type spring-loaded electrode is used to reduce interference caused by hair when placed on the head. The device’s validity and current directionality were verified using a scalp tissue-mimicking phantom composed of agar and saline. Full article

Ultrasonography is a recognized method of tissue visualization in medicine, which is based on the use of mechanical waves (ultrasound). Its application in dermatology requires the use of higher frequencies, hence the use of high-frequency ultrasonography (HFUS) is recommended. HFUS has gained approval in many areas of dermatology, including imaging of skin appendages [nail unit (NU) and hair follicles]. The analysis of the changing echogenicity of structures under the influence of inflammatory and neoplastic processes is used to assess the extent of the disease, treatment planning as well as in monitoring therapeutic effects. The aim of our work is to present the possibilities of visualizing NUs and scalps with the use of HFUS. Full article