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Keywords = eccrine sweat gland

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16 pages, 3183 KiB  
Article
Long-Term Hypoxia Upregulates Wnt and TGFβ1 Signaling in Eccrine Sweat Gland Cells In Vitro
by Yanlin Lyu, Hiroko Kato, Qianwen Luo, Naoya Otani, Tateki Kubo, Kiyotoshi Sekiguchi and Fumitaka Fujita
Int. J. Mol. Sci. 2025, 26(14), 6664; https://doi.org/10.3390/ijms26146664 - 11 Jul 2025
Viewed by 240
Abstract
Eccrine sweat glands play a vital role in human thermoregulation; however, their self-repair function is minimal. Therefore, developing methods to regenerate and improve sweat gland function that use cultured sweat gland cells presents an urgent issue. The tissue microenvironment, especially hypoxic niches, essentially [...] Read more.
Eccrine sweat glands play a vital role in human thermoregulation; however, their self-repair function is minimal. Therefore, developing methods to regenerate and improve sweat gland function that use cultured sweat gland cells presents an urgent issue. The tissue microenvironment, especially hypoxic niches, essentially maintain cell stemness, highlighting the importance of oxygen concentration in the culture environment. Therefore, we evaluated the effects of different oxygen environments on human sweat glands and their regulatory mechanisms. Human eccrine sweat glands express HIF-1α and HIF-2α, suggesting that they respond to hypoxia in vivo. Primary human-derived eccrine sweat gland cells were cultured for two weeks using the spheroid culture method at 0.5%, 2%, 10%, and 21% O2 concentration. HIF-1, Wnt/β-Catenin, and TGFβ1 signaling increased in sweat gland cells cultured in 0.5% O2 conditions, along with increased undifferentiated cell marker expression. The results of this study will contribute to in vitro research models of sweat glands and treatment development for damage to sweat glands, including burns. Full article
(This article belongs to the Special Issue Molecular Biology of Hypoxia)
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14 pages, 4504 KiB  
Article
Clinicopathological Characteristics of Skin Adnexal Tumors: Insights from a Two-Center Retrospective Study
by Burcu Sanal Yılmaz, Sibel Acat and Zeliha Esin Çelik
J. Clin. Med. 2025, 14(14), 4844; https://doi.org/10.3390/jcm14144844 - 8 Jul 2025
Viewed by 273
Abstract
Background/Objectives: Skin adnexal tumors (SATs) are rare neoplasms originating from sebaceous glands, hair follicles, and sweat glands, often presenting diagnostic challenges due to their histopathological diversity and clinical resemblance to other lesions. This epidemiological and clinicopathological study aimed to evaluate SATs diagnosed between [...] Read more.
Background/Objectives: Skin adnexal tumors (SATs) are rare neoplasms originating from sebaceous glands, hair follicles, and sweat glands, often presenting diagnostic challenges due to their histopathological diversity and clinical resemblance to other lesions. This epidemiological and clinicopathological study aimed to evaluate SATs diagnosed between January 2018 and October 2024 across two medical centers in Turkey. Methods: A total of 652 cases were analyzed based on demographic features, tumor size, anatomical localization, and histological subtypes per the 2018 WHO classification. The study also explored the predictors of malignancy, including tumor size and multifocality. Results: Among the cases, 98% were benign and 2% malignant. Sebaceous tumors were the most common (34.5%), followed by eccrine/apocrine (34.2%) and follicular tumors (31.3%). Benign tumors showed a slight female predominance (56.6%), while malignant tumors were more frequent in males (61.5%). The majority of tumors were located in the head and neck region (84.6%), and a tumor size >20 mm was significantly associated with malignancy. Conclusions: This study, one of the largest series from Turkey, highlights the importance of clinicopathological correlation in SATs. It contributes to the literature by identifying size-based cut-off values for malignancy prediction and by assessing interobserver agreement, multifocality, and tumor subtype distribution. Full article
(This article belongs to the Special Issue New Insights in Skin Tumors: From Pathogenesis to Therapy)
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15 pages, 4413 KiB  
Article
Type I Interferons in SARS-CoV-2 Cutaneous Infection: Is There a Role in Antiviral Defense?
by Tatiana Mina Yendo, Raquel Leão Orfali, Naiura Vieira Pereira, Natalli Zanete Pereira, Yasmim Álefe Leuzzi Ramos, Joyce Tiyeko Kawakami, Amaro Nunes Duarte-Neto, Mirian Nacagami Sotto, Luiz Fernando Ferraz Silva, Alberto José da Silva Duarte, Maria Notomi Sato and Valeria Aoki
Int. J. Mol. Sci. 2025, 26(13), 6049; https://doi.org/10.3390/ijms26136049 - 24 Jun 2025
Viewed by 391
Abstract
SARS-CoV-2, a β-coronavirus, primarily affects the lungs, with non-specific lesions and no cytopathic viral effect in the skin. Cutaneous antiviral mechanisms include activation of TLR/IRF pathways and production of type I IFN. We evaluated the antiviral mechanisms involved in the skin of COVID-19 [...] Read more.
SARS-CoV-2, a β-coronavirus, primarily affects the lungs, with non-specific lesions and no cytopathic viral effect in the skin. Cutaneous antiviral mechanisms include activation of TLR/IRF pathways and production of type I IFN. We evaluated the antiviral mechanisms involved in the skin of COVID-19 patients, including skin samples from 35 deceased patients who had contracted COVID-19 before the launch of the vaccine. Detection of SARS-CoV-2 in the skin was performed using transmission electron microscopy and RT-qPCR. Microscopic and molecular effects of the virus in skin were evaluated by histopathology, RT-qPCR, and immunohistochemistry (IHC). The results revealed the presence of SARS-CoV-2 and microscopic changes, including microvascular hyaline thrombi, perivascular dermatitis, and eccrine gland necrosis. There was increased transcription of TBK1 and a reduction in transcription of TNFα by RT-qPCR in the COVID-19 group. IHC revealed reduced expression of ACE2, TLR7, and IL-6, and elevated expression of IFN-β by epidermal cells. In the dermis, there was decreased expression of STING, IFN-β, and TNF-α and increased expression of IL-6 in sweat glands. Our results highlight the role of type I IFN in the skin of COVID-19 patients, which may modulate the cutaneous response to SARS-CoV-2. Full article
(This article belongs to the Special Issue Novel Approaches to Potential COVID-19 Molecular Therapeutics)
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11 pages, 2876 KiB  
Article
Dermoscopy, Line-Field Confocal Optical Coherence Tomography, Reflectance Confocal Microscopy, and Ultra-High-Frequency Ultrasound: Clues for the Diagnosis of Hidrocystomas
by Maria Erasti, Martina D’Onghia, Anastasia Batsikosta, Mariano Suppa, Linda Tognetti, Simone Cappilli, Ketty Peris, Francesca La Marca, Jean Luc Perrot, Giovanni Rubegni, Pietro Rubegni and Elisa Cinotti
Diagnostics 2024, 14(23), 2671; https://doi.org/10.3390/diagnostics14232671 - 27 Nov 2024
Viewed by 1006
Abstract
Background/Objectives: Hidrocystomas, eccrine and apocrine, are rare cystic lesions that form benign tumors of the sweat glands. This study aimed to describe the clinical features of hidrocystomas and evaluate the role of non-invasive imaging techniques, including dermoscopy, Line-field Confocal Optical Coherence Tomography (LC-OCT), [...] Read more.
Background/Objectives: Hidrocystomas, eccrine and apocrine, are rare cystic lesions that form benign tumors of the sweat glands. This study aimed to describe the clinical features of hidrocystomas and evaluate the role of non-invasive imaging techniques, including dermoscopy, Line-field Confocal Optical Coherence Tomography (LC-OCT), Reflectance Confocal Microscopy (RCM), and Ultra-High-Frequency Ultrasound (UHFUS), in their diagnosis. Methods: In total, seven cases of hidrocystomas were collected from the Dermatologic Clinic of the University of Siena, Italy. Predefined dermoscopic, LC-OCT, RCM, and UHFUS features were retrospectively described. Results: Overall, hidrocystomas were located on the face, mainly presenting as blue/purple-bluish translucent papules (71%). Dermoscopic examination revealed a homogeneous purple-bluish color (71%), white pale halo (71%), and shiny globules at the periphery (57%). LC-OCT identified a hyporeflective cupoliform round structure in the dermis with a bright and thick contour, while UHFUS showed a round structure in the dermis filled with hypoechoic content. Conclusions: Non-invasive imaging techniques could significantly enhance the diagnostic accuracy of hidrocystomas, aid in differentiation from other lesions, and minimize unnecessary biopsies. Full article
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8 pages, 908 KiB  
Article
Iontophoresis Improves the Impact on the Quality of Life of Children with Primary Hyperhidrosis—A Prospective Study and a Short Review
by Florentina Nastase, Camelia Busila, Alin Codrut Nicolescu, Cristina Mihaela Marin and Alin Laurentiu Tatu
Children 2024, 11(10), 1253; https://doi.org/10.3390/children11101253 - 17 Oct 2024
Viewed by 2316
Abstract
Background: Primary hyperhidrosis (PH) is a somatic and idiopathic pediatric skin disease. The eccrine glands are tiny and very numerous, with approximately 3 million distributed throughout the skin. There is no commonly accepted amount of sweating to define hyperhidrosis, but people with this [...] Read more.
Background: Primary hyperhidrosis (PH) is a somatic and idiopathic pediatric skin disease. The eccrine glands are tiny and very numerous, with approximately 3 million distributed throughout the skin. There is no commonly accepted amount of sweating to define hyperhidrosis, but people with this disease suffer real limitations integrating into society, which can be quantified through quality of life measurement scales. We want to draw attention to this disease and its impact on children’s quality of life because it is significant and there are no studies conducted on groups consisting solely of children. Methods: There are various quality of life evaluation questionnaires for hyperhidrosis. We studied 103 children with hyperhidrosis by monitoring their sweat severity and its impact on quality of life, using the Hyperhidrosis Disease Severity Scale. We compared the scale results before and after 10 days of iontophoresis. This study includes only children under 18 years old, treated with iontophoresis. Results: The average age of the group is 11.84 ± 2.89 years. Treatment success is recorded in 68 (66.02%) children, but a change in the score is recorded in 74 (71.84%) children. The average HDSS score at T0 is 2.95 ± 0.70, compared to the HDSS score at T1 of 1.92 ± 0.86. Conclusions: Hyperhidrosis has a negative impact on daily life, especially self-esteem, occupational productivity, emotional well-being, and interpersonal relationships. Iontophoresis is a safe and effective treatment method that reduces the severity of hyperhidrosis and increases the quality of life. Full article
(This article belongs to the Section Pediatric Dermatology)
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15 pages, 761 KiB  
Review
Porocarcinoma: Clinical and Histological Features, Immunohistochemistry and Outcomes: A Systematic Review
by Thomas Bienstman, Canan Güvenç and Marjan Garmyn
Int. J. Mol. Sci. 2024, 25(11), 5760; https://doi.org/10.3390/ijms25115760 - 25 May 2024
Cited by 3 | Viewed by 2161
Abstract
Porocarcinoma (PC) is a rare adnexal tumor, mainly found in the elderly. The tumor arises from the acrosyringium of eccrine sweat glands. The risk of lymph node and distant metastasis is high. Differential diagnosis with squamous cell carcinoma is difficult, although NUT expression [...] Read more.
Porocarcinoma (PC) is a rare adnexal tumor, mainly found in the elderly. The tumor arises from the acrosyringium of eccrine sweat glands. The risk of lymph node and distant metastasis is high. Differential diagnosis with squamous cell carcinoma is difficult, although NUT expression and YAP1 fusion products can be very useful for diagnosis. Currently, wide local excision is the main surgical treatment, although Mohs micrographic surgery is promising. To date, there is no consensus regarding the role of sentinel lymph node biopsy and consequential lymph node dissection. No guidelines exist for radiotherapy, which is mostly performed based on tumor characteristics and excision margins. Only a few studies report systemic treatment for advanced PC, although therapy with pembrolizumab and EGFR inhibitors show promise. In this review, we discuss epidemiology, clinical features, histopathological features, immunohistochemistry and fusion products, surgical management and survival outcomes according to stage, surgical management, radiotherapy and systemic therapy. Full article
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24 pages, 6473 KiB  
Review
Recent Advances in Two-Dimensional MXene-Based Electrochemical Biosensors for Sweat Analysis
by Selvaganapathy Ganesan, Kalaipriya Ramajayam, Thangavelu Kokulnathan and Arunkumar Palaniappan
Molecules 2023, 28(12), 4617; https://doi.org/10.3390/molecules28124617 - 7 Jun 2023
Cited by 20 | Viewed by 4199
Abstract
Sweat, a biofluid secreted naturally from the eccrine glands of the human body, is rich in several electrolytes, metabolites, biomolecules, and even xenobiotics that enter the body through other means. Recent studies indicate a high correlation between the analytes’ concentrations in the sweat [...] Read more.
Sweat, a biofluid secreted naturally from the eccrine glands of the human body, is rich in several electrolytes, metabolites, biomolecules, and even xenobiotics that enter the body through other means. Recent studies indicate a high correlation between the analytes’ concentrations in the sweat and the blood, opening up sweat as a medium for disease diagnosis and other general health monitoring applications. However, low concentration of analytes in sweat is a significant limitation, requiring high-performing sensors for this application. Electrochemical sensors, due to their high sensitivity, low cost, and miniaturization, play a crucial role in realizing the potential of sweat as a key sensing medium. MXenes, recently developed anisotropic two-dimensional atomic-layered nanomaterials composed of early transition metal carbides or nitrides, are currently being explored as a material of choice for electrochemical sensors. Their large surface area, tunable electrical properties, excellent mechanical strength, good dispersibility, and biocompatibility make them attractive for bio-electrochemical sensing platforms. This review presents the recent progress made in MXene-based bio-electrochemical sensors such as wearable, implantable, and microfluidic sensors and their applications in disease diagnosis and developing point-of-care sensing platforms. Finally, the paper discusses the challenges and limitations of MXenes as a material of choice in bio-electrochemical sensors and future perspectives on this exciting material for sweat-sensing applications. Full article
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13 pages, 8073 KiB  
Article
Molecular and Physiological Functions of PACAP in Sweat Secretion
by Michio Yamashita, Junko Shibato, Randeep Rakwal, Naoko Nonaka, Takahiro Hirabayashi, Brian J. Harvey, Seiji Shioda and Fumiko Takenoya
Int. J. Mol. Sci. 2023, 24(5), 4572; https://doi.org/10.3390/ijms24054572 - 26 Feb 2023
Cited by 2 | Viewed by 2980
Abstract
Sweat plays a critical role in human body, including thermoregulation and the maintenance of the skin environment and health. Hyperhidrosis and anhidrosis are caused by abnormalities in sweat secretion, resulting in severe skin conditions (pruritus and erythema). Bioactive peptide and pituitary adenylate cyclase-activating [...] Read more.
Sweat plays a critical role in human body, including thermoregulation and the maintenance of the skin environment and health. Hyperhidrosis and anhidrosis are caused by abnormalities in sweat secretion, resulting in severe skin conditions (pruritus and erythema). Bioactive peptide and pituitary adenylate cyclase-activating polypeptide (PACAP) was isolated and identified to activate adenylate cyclase in pituitary cells. Recently, it was reported that PACAP increases sweat secretion via PAC1R in mice and promotes the translocation of AQP5 to the cell membrane through increasing intracellular [Ca2+] via PAC1R in NCL-SG3 cells. However, intracellular signaling mechanisms by PACAP are poorly clarified. Here, we used PAC1R knockout (KO) mice and wild-type (WT) mice to observe changes in AQP5 localization and gene expression in sweat glands by PACAP treatment. Immunohistochemistry revealed that PACAP promoted the translocation of AQP5 to the lumen side in the eccrine gland via PAC1R. Furthermore, PACAP up-regulated the expression of genes (Ptgs2, Kcnn2, Cacna1s) involved in sweat secretion in WT mice. Moreover, PACAP treatment was found to down-regulate the Chrna1 gene expression in PAC1R KO mice. These genes were found to be involved in multiple pathways related to sweating. Our data provide a solid basis for future research initiatives in order to develop new therapies to treat sweating disorders. Full article
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11 pages, 21749 KiB  
Article
TRPS1 Is Differentially Expressed in a Variety of Malignant and Benign Cutaneous Sweat Gland Neoplasms
by Hatice B. Zengin, Chau M. Bui, Kristin Rybski, Tatsiana Pukhalskaya, Bahadir Yildiz and Bruce R. Smoller
Dermatopathology 2023, 10(1), 75-85; https://doi.org/10.3390/dermatopathology10010011 - 2 Feb 2023
Cited by 14 | Viewed by 5151
Abstract
Neoplasms of sweat glands and the breast may be morphologically and immunophenotypically similar. A recent study showed that TRPS1 staining is a highly sensitive and specific marker for breast carcinoma. In this study, we analyzed TRPS1 expression in a spectrum of cutaneous sweat [...] Read more.
Neoplasms of sweat glands and the breast may be morphologically and immunophenotypically similar. A recent study showed that TRPS1 staining is a highly sensitive and specific marker for breast carcinoma. In this study, we analyzed TRPS1 expression in a spectrum of cutaneous sweat gland tumors. We stained five microcystic adnexal carcinomas (MACs), three eccrine adenocarcinomas, two syringoid eccrine carcinomas, four hidradenocarcinomas, six porocarcinomas, one eccrine carcinoma-NOS, 11 hidradenomas, nine poromas, seven cylindromas, three spiradenomas, and 10 syringomas with TRPS1 antibodies. All of the MACs and syringomas were negative. Every cylindroma and two of the three spiradenomas demonstrated intense staining in cells lining the ductular spaces, with negative to relatively weak expression in surrounding cells. Of the 16 remaining malignant entities, 13 were intermediate to high positive, one was low positive, and two were negative. From the 20 hidradenomas and poromas, intermediate to high positivity was revealed in 14 cases, low positivity in three cases, and negative staining in three cases. Our study demonstrates a very high (86%) expression of TRPS1 in malignant and benign adnexal tumors that are mainly composed of islands or nodules with polygonal cells, e.g., hidradenomas. On the other hand, tumors with small ducts or strands of cells, such as MACs, appear to be completely negative. This differential staining among types of sweat gland tumors may represent either differential cells of origin or divergent differentiation and has the potential to be used as a diagnostic tool in the future. Full article
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12 pages, 6948 KiB  
Article
Transglutaminase Activity Is Conserved in Stratified Epithelia and Skin Appendages of Mammals and Birds
by Attila Placido Sachslehner, Marta Surbek, Bahar Golabi, Miriam Geiselhofer, Karin Jäger, Claudia Hess, Ulrike Kuchler, Reinhard Gruber and Leopold Eckhart
Int. J. Mol. Sci. 2023, 24(3), 2193; https://doi.org/10.3390/ijms24032193 - 22 Jan 2023
Cited by 14 | Viewed by 2617
Abstract
The cross-linking of structural proteins is critical for establishing the mechanical stability of the epithelial compartments of the skin and skin appendages. The introduction of isopeptide bonds between glutamine and lysine residues depends on catalysis by transglutaminases and represents the main protein cross-linking [...] Read more.
The cross-linking of structural proteins is critical for establishing the mechanical stability of the epithelial compartments of the skin and skin appendages. The introduction of isopeptide bonds between glutamine and lysine residues depends on catalysis by transglutaminases and represents the main protein cross-linking mechanism besides the formation of disulfide bonds. Here, we used a fluorescent labeling protocol to localize the activity of transglutaminases on thin sections of the integument and its appendages in mammals and birds. In human tissues, transglutaminase activity was detected in the granular layer of the epidermis, suprabasal layers of the gingival epithelium, the duct of sweat glands, hair follicles and the nail matrix. In the skin appendages of chickens, transglutaminase activity was present in the claw matrix, the feather follicle sheath, the feather sheath and in differentiating keratinocytes of feather barb ridges. During chicken embryogenesis, active transglutaminase was found in the cornifying epidermis, the periderm and the subperiderm. Transglutaminase activity was also detected in the filiform papillae on the tongue of mice and in conical papillae on the tongue of chickens. In summary, our study reveals that transglutaminase activities are widely distributed in integumentary structures and suggests that transglutamination contributes to the cornification of hard skin appendages such as nails and feathers. Full article
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7 pages, 1048 KiB  
Article
Bothnian Palmoplantar Keratoderma: Further Delineation of the Associated Phenotype
by Laura Fertitta, Fabienne Charbit-Henrion, Stéphanie Leclerc-Mercier, Thao Nguyen-Khoa, Robert Baran, Caroline Alby, Julie Steffann, Isabelle Sermet-Gaudelus and Smail Hadj-Rabia
Genes 2022, 13(12), 2360; https://doi.org/10.3390/genes13122360 - 14 Dec 2022
Cited by 3 | Viewed by 2203
Abstract
Bothnian palmoplantar keratoderma (PPKB, MIM600231) is an autosomal dominant form of diffuse non-epidermolytic PPK characterized by spontaneous yellowish-white PPK associated with a spongy appearance after water-immersion. It is due to AQP5 heterozygous mutations. We report four patients carrying a novel AQP5 heterozygous mutation [...] Read more.
Bothnian palmoplantar keratoderma (PPKB, MIM600231) is an autosomal dominant form of diffuse non-epidermolytic PPK characterized by spontaneous yellowish-white PPK associated with a spongy appearance after water-immersion. It is due to AQP5 heterozygous mutations. We report four patients carrying a novel AQP5 heterozygous mutation (c.125T>A; p.(Ile42Asn)), and belonging to the same French family. Early palmoplantar swelling (before one year of age), pruritus and hyperhidrosis were constant. The PPK was finally characterized as transgrediens, non-progrediens, diffuse PPK with a clear delineation between normal and affected skin. The cutaneous modifications at water-immersion test, “hand-in-the-bucket sign”, were significantly evident after 3 to 6 min of immersion in the children and father, respectively. AQP5 protein is expressed in eccrine sweat glands (ESG), salivary and airway submucosal glands. In PPKB, gain of function mutations seem to widen the channel diameter of ESG and increase water movement. Thus, swelling seems to be induced by hypotonicity with water entrance into cells, while hyperhidrosis is the result of an increased cytosolic calcium concentration. Full article
(This article belongs to the Special Issue Molecular Biology and Treatment of Genodermatoses)
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13 pages, 9600 KiB  
Review
Diagnosis and Management of Porocarcinoma
by Kodai Miyamoto, Teruki Yanagi, Takuya Maeda and Hideyuki Ujiie
Cancers 2022, 14(21), 5232; https://doi.org/10.3390/cancers14215232 - 25 Oct 2022
Cited by 28 | Viewed by 6483
Abstract
Eccrine porocarcinoma, also known as porocarcinoma (PC) and malignant eccrine poroma, is very rare and is known to arise from the cutaneous intraepidermal ducts of the sweat glands. Its etiology is not well understood; however, some studies suggest that PC tumors originate from [...] Read more.
Eccrine porocarcinoma, also known as porocarcinoma (PC) and malignant eccrine poroma, is very rare and is known to arise from the cutaneous intraepidermal ducts of the sweat glands. Its etiology is not well understood; however, some studies suggest that PC tumors originate from benign eccrine poroma. Recently, several gene alterations have been reported in PC that can reveal mechanisms of the oncogenic process. Since the clinical and histopathological findings of PC are variable, PC is difficult to diagnose precisely, especially when the histology resembles that of cutaneous squamous cell carcinoma or poroma. Immunohistochemical staining with carcinoembryonic antigen and epithelial membrane antigen may help to distinguish PC from other tumors. The standard treatment for local PC is wide local excision. The prognosis of patients with metastatic PC is poor, with mortality rates of approximately 60–70%. The efficacy of radiation and chemotherapy for metastatic PC is limited; however, immunotherapy with pembrolizumab, a programmed cell death protein 1 inhibitor, could be a promising treatment. This review focuses on the history, pathogenesis, pathological features, diagnosis, and treatment of eccrine porocarcinoma. Full article
(This article belongs to the Special Issue Advanced Research in Oncology in 2022)
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10 pages, 472 KiB  
Review
Extended Overview of Ocular Phenotype with Recent Advances in Hypohidrotic Ectodermal Dysplasia
by Michele Callea, Stefano Bignotti, Francesco Semeraro, Francisco Cammarata-Scalisi, Jinia El-Feghaly, Antonino Morabito, Vito Romano and Colin E. Willoughby
Children 2022, 9(9), 1357; https://doi.org/10.3390/children9091357 - 6 Sep 2022
Cited by 7 | Viewed by 2886
Abstract
The term ectodermal dysplasias (EDs) describes a heterogeneous group of inherited developmental disorders that affect several tissues of ectodermal origin. The most common form of EDs is hypohidrotic ectodermal dysplasia (HED), which is characterized by hypodontia, hypotrichosis, and partial or total eccrine sweat [...] Read more.
The term ectodermal dysplasias (EDs) describes a heterogeneous group of inherited developmental disorders that affect several tissues of ectodermal origin. The most common form of EDs is hypohidrotic ectodermal dysplasia (HED), which is characterized by hypodontia, hypotrichosis, and partial or total eccrine sweat gland deficiency. HED is estimated to affect at least 1 in 17,000 people worldwide. Patients with HED have characteristic facies with periorbital hyperpigmentation, depressed nasal bridge, malar hypoplasia, and absent or sparse eyebrows and eyelashes. The common ocular features of HED include madarosis, trichiasis, and ocular chronic surface disease due to dry eye syndrome, which manifests clinically with discomfort, photophobia, and redness. Dry eye is common in HED and results from a combination of ocular surface defects: mucus abnormalities (abnormal conjunctival mucinous glands), aqueous tear deficiency (abnormalities in the lacrimal gland) and lipid deficiency (due to the partial or total absence of the meibomian glands; modified sebaceous glands with the tarsal plate). Sight-threatening complications result from ocular surface disease, including corneal ulceration and perforation with subsequent corneal scarring and neovascularization. Rare ocular features have been reported and include bilateral or unilateral congenital cataracts, bilateral glaucoma, chorioretinal atrophy and atresia of the nasolacrimal duct. Recognition of the ocular manifestations of HED is required to perform clinical surveillance, instigate supportive and preventative treatment, and manage ocular complications. Full article
(This article belongs to the Special Issue Challenges of Rare Diseases in Children)
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15 pages, 5047 KiB  
Article
SARS-CoV-2 and Skin: New Insights and Perspectives
by Gerardo Cazzato, Eliano Cascardi, Anna Colagrande, Caterina Foti, Alessandra Stellacci, Maricla Marrone, Giuseppe Ingravallo, Francesca Arezzo, Vera Loizzi, Antonio Giovanni Solimando, Paola Parente, Eugenio Maiorano, Gennaro Cormio, Angelo Vacca and Leonardo Resta
Biomolecules 2022, 12(9), 1212; https://doi.org/10.3390/biom12091212 - 31 Aug 2022
Cited by 13 | Viewed by 3974
Abstract
The SARS-CoV-2 pandemic has disrupted global health systems and brought the entire globe to its knees. Although born as a disease of the respiratory system, COVID-19 can affect different parts of the body, including the skin. Reports of ongoing skin manifestations of COVID-19 [...] Read more.
The SARS-CoV-2 pandemic has disrupted global health systems and brought the entire globe to its knees. Although born as a disease of the respiratory system, COVID-19 can affect different parts of the body, including the skin. Reports of ongoing skin manifestations of COVID-19 have gradually multiplied, pushing researchers to investigate the etiopathogenic mechanisms underlying these phenomena in more depth. In an attempt to investigate the possible association between SARS-CoV-2, ACE2, TMPRSS2 and skin manifestations, we performed immunohistochemical investigations of the ACE2 receptor and TMPRSS2 in nine skin samples from SARS-CoV-2-positive patients compared to a cohort of healthy controls. Furthermore, after consulting public databases regarding ACE2 mRNA expression in various cell populations resident in the skin, we conducted a literature review aimed at outlining the current state of this topic. We did not find statistically different immuno-expression of ACE2 and TMPRSS2 between the group of SARS-CoV-2-positive patients (nine skin biopsies) and the control group. Regarding ACE2, major immunolabeling was present in the epidermal keratinocytes and, rarely, in the fibroblasts and in the adenomeres of the eccrine sweat glands. Regarding the immune expression of TMPRSS2, we found no significant differences between the two groups, with a weak immune staining only in some skin cytotypes. From the review of the literature, we isolated 35 relevant articles according to the inclusion criteria adopted. ACE2 appears to be a target of SARS-CoV-2, although, other receptor molecules may potentially be implicated, such as TMPRSS2. Future studies with large cases and different molecular investigative methods are needed to further elucidate the mechanisms underlying the skin manifestations of SARS-CoV-2. Full article
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25 pages, 6810 KiB  
Article
Sweat Proteomics in Cystic Fibrosis: Discovering Companion Biomarkers for Precision Medicine and Therapeutic Development
by Bastien Burat, Audrey Reynaerts, Dominique Baiwir, Maximilien Fléron, Sophie Gohy, Gauthier Eppe, Teresinha Leal and Gabriel Mazzucchelli
Cells 2022, 11(15), 2358; https://doi.org/10.3390/cells11152358 - 31 Jul 2022
Cited by 7 | Viewed by 3895
Abstract
In clinical routine, the diagnosis of cystic fibrosis (CF) is still challenging regardless of international consensus on diagnosis guidelines and tests. For decades, the classical Gibson and Cooke test measuring sweat chloride concentration has been a keystone, yet, it may provide normal or [...] Read more.
In clinical routine, the diagnosis of cystic fibrosis (CF) is still challenging regardless of international consensus on diagnosis guidelines and tests. For decades, the classical Gibson and Cooke test measuring sweat chloride concentration has been a keystone, yet, it may provide normal or equivocal results. As of now, despite the combination of sweat testing, CFTR genotyping, and CFTR functional testing, a small fraction (1–2%) of inconclusive diagnoses are reported and justifies the search for new CF biomarkers. More importantly, in the context of precision medicine, with a view to early diagnosis, better prognosis, appropriate clinical follow-up, and new therapeutic development, discovering companion biomarkers of CF severity and phenotypic rescue are of utmost interest. To date, previous sweat proteomic studies have already documented disease-specific variations of sweat proteins (e.g., in schizophrenia and tuberculosis). In the current study, sweat samples from 28 healthy control subjects and 14 patients with CF were analyzed by nanoUHPLC-Q-Orbitrap-based shotgun proteomics, to look for CF-associated changes in sweat protein composition and abundance. A total of 1057 proteins were identified and quantified at an individual level, by a shotgun label-free approach. Notwithstanding similar proteome composition, enrichment, and functional annotations, control and CF samples featured distinct quantitative proteome profiles significantly correlated with CF, accounting for the respective inter-individual variabilities of control and CF sweat. All in all: (i) 402 sweat proteins were differentially abundant between controls and patients with CF, (ii) 68 proteins varied in abundance between F508del homozygous patients and patients with another genotype, (iii) 71 proteins were differentially abundant according to the pancreatic function, and iv) 54 proteins changed in abundance depending on the lung function. The functional annotation of pathophysiological biomarkers highlighted eccrine gland cell perturbations in: (i) protein biosynthesis and trafficking, (ii) CFTR proteostasis and membrane stability, and (iii) cell-cell adherence, membrane integrity, and cytoskeleton crosstalk. Cytoskeleton-related biomarkers were of utmost interest because of the consistency between variations observed here in CF sweat and variations previously documented in other CF tissues. From a clinical stance, nine candidate biomarkers of CF diagnosis (CUTA, ARG1, EZR, AGA, FLNA, MAN1A1, MIA3, LFNG, SIAE) and seven candidate biomarkers of CF severity (ARG1, GPT, MDH2, EML4 (F508del homozygous), MGAT1 (pancreatic insufficiency), IGJ, TOLLIP (lung function impairment)) were deemed suitable for further verification. Full article
(This article belongs to the Collection Cystic Fibrosis: Cells, Physiopathology and Emerging Therapies)
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