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Skin Research and Technology : Official... Jul 2024Acne vulgaris (AV) is a chronic inflammatory skin condition affecting the pilosebaceous unit, commonly presenting as comedones, papules, pustules, or nodules on the...
BACKGROUND
Acne vulgaris (AV) is a chronic inflammatory skin condition affecting the pilosebaceous unit, commonly presenting as comedones, papules, pustules, or nodules on the face, upper limbs, torso, and back, with comedones formation being the primary pathology leading to disfiguring inflammation, hyperpigmentation, scarring, and psychological impact.
AIM
The purpose of this study was to investigate the significance of two genetic variants in the promoter region of the tumor necrosis factor-alpha (TNF-α) gene and their association with insulin resistance (IR) in acne patients. To understand how these variants contribute to AV and its associated IR.
SUBJECTS AND METHODS
An analytical cross-sectional study with a case-control design and research evaluation was carried out on 87 AV patients and 73 healthy volunteers. The medical histories of both groups were obtained, as well as the severity and duration of inflammation among acne sufferers, as well as demographic data. Biochemical analysis was performed on both sets of participants, including fasting blood glucose levels, insulin levels while fasting, IR, and serum TNF-α. PCR-RFLP analysis identified -863 G > A (rs1800630) and -308 G > A (rs1800629) variations, and real-time PCR analysis evaluated TNF-α gene expression in both patients and healthy people.
RESULTS
Acne patients exhibited significantly higher levels of IR, fasting glucose, fasting insulin, serum TNF-α, and TNF-α folding change, when compared to healthy controls. The co-dominant model for -863 G > A and -308 G > A variants exhibited significant variations between the two groups. Severe acne patients who had the A/A genotype for -308 variants exhibited higher levels of IR, serum TNF-α, and TNF-α folding change. Highly significant positive linear correlation between IR, serum TNF-α, and TNF-α folding change in severe AV.
CONCLUSION
There is a correlation between AV, especially severe acne, and the -863 G > A and -308 G > A polymorphism, which influences TNF-α gene expression and serum TNF-α levels.
Topics: Humans; Acne Vulgaris; Insulin Resistance; Tumor Necrosis Factor-alpha; Male; Female; Case-Control Studies; Cross-Sectional Studies; Adult; Young Adult; Adolescent; Severity of Illness Index; Polymorphism, Single Nucleotide; Genetic Predisposition to Disease
PubMed: 38923681
DOI: 10.1111/srt.13811 -
Prenatal Diagnosis Jun 2024This article presents two fetal cases of gnathodiaphyseal dysplasia (GDD), a rare autosomal dominant disorder, and reviews the relevant literature. The cases involved... (Review)
Review
This article presents two fetal cases of gnathodiaphyseal dysplasia (GDD), a rare autosomal dominant disorder, and reviews the relevant literature. The cases involved two fetuses exhibiting bone bowing, which led to the diagnosis of GDD. Genetic testing revealed two de novo variants of the ANO5 gene, confirming the diagnosis. A literature review was conducted to explore GDD's clinical and paraclinical presentation, diagnosis, and management. GDD is a rare but frequently inherited cause of bone fragility and jaw lesions characterized by a gain-of-function variant within the ANO5 gene. Clinical manifestations range from recurrent dental infections with mild jaw lesions to severe bone fragility with several fractures associated with large jaw lesions requiring disfiguring surgeries. Diagnostic techniques depend on the context and include targeted genetic testing of ANO5, untargeted molecular analysis with whole-exome sequencing, or whole-genome sequencing. This case report highlights the importance of recognizing GDD as a novel cause of bone bowing and fractures during pregnancy. By summarizing the literature, this article contributes to healthcare professionals' knowledge and improves the recognition, diagnosis, and care of patients with GDD.
PubMed: 38922934
DOI: 10.1002/pd.6631 -
Handchirurgie, Mikrochirurgie,... Jun 2024Apart from surgical procedures for breast and buttock augmentation, copolyamide fillers can be locally injected for an increase in volume. This method is especially...
BACKGROUND
Apart from surgical procedures for breast and buttock augmentation, copolyamide fillers can be locally injected for an increase in volume. This method is especially popular in Asia.
PATIENT
A 39-year-old female patient had received a buttock augmentation by injection of a copolyamide filler. She presented with multiple abscesses six years after the augmentation. She had developed multiple fistulas and the filler had migrated down to the thigh muscles.
RESULTS
In the presented case, the patient experienced multiple complications such as abscess formation, filler migration and chronic infection, with a significant time delay. Complete removal of the filler is only possible by removing surrounding tissue as well. Surgical treatment with repeated debridements and administration of an intravenous broad-spectrum antibiotic are the current standard of care. In contrast, the SWOP technique presented here appears to be less invasive and less likely for local recurrence.
CONCLUSION
A breast or buttock augmentation with copolyamide fillers is associated with a high risk of abscess and fistula formation leading to a permanent disfigurement of the patient.
PubMed: 38914121
DOI: 10.1055/a-2288-5002 -
Clinical Case Reports Jul 2024Noma is still around today and can be deadly if ignored. Prompt identification and comprehensive care are essential for averting permanent impairments and disfigurements.
KEY CLINICAL MESSAGE
Noma is still around today and can be deadly if ignored. Prompt identification and comprehensive care are essential for averting permanent impairments and disfigurements.
ABSTRACT
Noma is a rapid developing orofacial gangrene and a disabling disease that primarily affects young children who live in dangerous conditions. Underlying diseases such as HIV/AIDS and malnutrition can enhance the likelihood of Noma's emergence. This is a case of a 9-year-old girl patient who arrived malnourished and with an ulcerating communicating right mandibular soft tissue lesion as well as right hemiparesis which had an acute onset. The patient was likewise HIV positive discovered upon admission, possibly as a result of vertical transmission, and was an ART (antiretroviral therapy) treatment naive patient. A holistic treatment plan was installed and a positive clinical response was observed. Early treatment is key in Noma management.
PubMed: 38911917
DOI: 10.1002/ccr3.9111 -
Plastic and Reconstructive Surgery.... Jun 2024The maxilla comprises horizontal and vertical buttresses, each with specific functions, supporting various organs, such as the eyes, nose, and oral cavity. Notably, they...
BACKGROUND
The maxilla comprises horizontal and vertical buttresses, each with specific functions, supporting various organs, such as the eyes, nose, and oral cavity. Notably, they combine to form a three-dimensional structure, which enables the buttresses to provide their inherent support strength. However, reconstructing the maxilla after maxillectomy by assembling new buttresses is challenging. We successfully reconstructed all the buttresses crucial for facial appearance and dental rehabilitation using a vascularized fibular flap.
METHODS
Four patients underwent maxillary buttress reconstruction with a fibular flap after total or subtotal maxillectomy. We used computer-aided design/computer-aided manufacturing digital technology to osteotomize the fibula into multiple segments and assemble them to reconstruct the maxillary buttresses. Each buttress was assembled based on a preoperative simulation.
RESULTS
All patients underwent immediate one-stage maxillary reconstruction. They had good maxillary buttress alignment and acquired good facial appearance, eye position, nasal airway, and prosthetically suitable maxillary alveolus ridge.
CONCLUSIONS
The combination of computer-aided design/computer-aided manufacturing digital technology and surgical techniques has enabled novel maxillary reconstruction, providing great hope to patients experiencing facial disfigurement and loss of function after maxillectomy.
PubMed: 38911572
DOI: 10.1097/GOX.0000000000005914 -
Cell Communication and Signaling : CCS Jun 2024Excessive scar formation such as hypertrophic scars and keloids, resulting from trauma or surgical procedures, present a widespread concern for causing disfigurement,...
Excessive scar formation such as hypertrophic scars and keloids, resulting from trauma or surgical procedures, present a widespread concern for causing disfigurement, discomfort, and functional limitations. Macrophages play pivotal roles in maintaining tissue homeostasis, orchestrating tissue development, repair, and immune responses, and its transition of function and phenotype plays a critical role in regulating the balance between inflammation and tissue regeneration, which is central to cutaneous scar formation. Recent evidence suggests the involvement of Sonic Hedgehog (SHH) in the induction of anti-inflammatory M2-like macrophage phenotypes within tumor microenvironments. In our study, we observed increased SHH expression in human hypertrophic scars, prompting an investigation into its influence on macrophage polarization, efferocytosis, and cutaneous scar formation. Our findings reveal that SHH can enhance oxidative phosphorylation (OXPHOS) in macrophages, augment macrophage efferocytosis, and promote M2 polarization, finally contributing to the progression of cutaneous scar formation. Notably, targeting SHH signaling with vismodegib exhibited promising potential in mitigating scar formation by reversing the effects of enhanced OXPHOS and M2 polarization in macrophages. In conclusion, this study underscores the critical roles of macrophage metabolism, particularly OXPHOS, efferocytosis and SHH signaling in cutaneous scar formation. Understanding these mechanisms provides new avenues for potential interventions and scar prevention strategies.
Topics: Hedgehog Proteins; Macrophages; Humans; Oxidative Phosphorylation; Animals; Phagocytosis; Cicatrix, Hypertrophic; Mice; Signal Transduction; Cicatrix; Mice, Inbred C57BL; Anilides; Pyridines; Efferocytosis
PubMed: 38898530
DOI: 10.1186/s12964-024-01692-w -
Skin Research and Technology : Official... Jun 2024Hypertrophic scars (HS) are a common disfiguring condition in daily clinical encounters which brings a lot of anxieties and concerns to patients, but the treatment...
BACKGROUND
Hypertrophic scars (HS) are a common disfiguring condition in daily clinical encounters which brings a lot of anxieties and concerns to patients, but the treatment options of HS are limited. Black cloth ointment (BCO), as a cosmetic ointment applicable to facial scars, has shown promising therapeutic effects for facial scarring. However, the molecular mechanisms underlying its therapeutic effects remain unclear.
MATERIAL AND METHODS
Network pharmacology was first applied to analyze the major active components of BCO and the related signaling pathways. Subsequently, rabbit ear scar model was successfully established to determine the pharmacological effects of BCO and its active component β-elemene on HS. Finally, the molecular mechanism of BCO and β-elemene was analyzed by Western blot.
RESULTS
Through the network pharmacology, it showed that β-elemene was the main active ingredient of BCO, and it could significantly improve the pathological structure of HS and reduce collagen deposition. BCO and β-elemene could increase the expression of ER stress-related markers and promote the increase of apoptotic proteins in the Western blot experiment and induce the apoptosis of myofibroblasts.
CONCLUSIONS
Our findings indicate that the material basis for the scar-improving effects of the BCO is β-elemene, and cellular apoptosis is the key mechanism through which the BCO and β-elemene exert their effects.
Topics: Cicatrix, Hypertrophic; Rabbits; Animals; Ointments; Network Pharmacology; Disease Models, Animal; Sesquiterpenes; Humans; Apoptosis; Female; Male
PubMed: 38895902
DOI: 10.1111/srt.13791 -
Journal of Clinical Medicine Jun 2024Alopecia areata (AA) is a common form of non-scarring alopecia characterized by acute hair loss. Nail involvement, though not always present, can occur in AA patients.... (Review)
Review
Alopecia areata (AA) is a common form of non-scarring alopecia characterized by acute hair loss. Nail involvement, though not always present, can occur in AA patients. Nail changes are more frequent in severe forms of AA and in children. Literature related to nail changes in AA was comprehensively reviewed after a search on the PubMed database without time restrictions in order to identify common clinical presentations and associated factors to aid clinicians with the correct evaluation and management of these dystrophies. Nail changes in AA include pitting, trachyonychia, leukonychia, red lunula, and miscellaneous alterations such as longitudinal ridging and brittle nails. Nail changes are usually asymptomatic but, nevertheless, sometimes cosmetically disfiguring and can be associated with a reduced quality of life and impaired daily activities. Nail changes in AA may precede or follow hair loss and can occur as an isolated finding. Diagnosis may require a biopsy for definitive identification. Spontaneous improvement is possible, particularly in children, and treatment is not always necessary. Further research is, however, needed to establish a consensus on treatment approaches according to age and severity.
PubMed: 38893003
DOI: 10.3390/jcm13113292 -
International Journal of Molecular... May 2024Alopecia areata (AA) is an autoimmune-mediated disorder in which the proximal hair follicle (HF) attack results in non-scarring partial to total scalp or body hair loss.... (Review)
Review
Alopecia areata (AA) is an autoimmune-mediated disorder in which the proximal hair follicle (HF) attack results in non-scarring partial to total scalp or body hair loss. Despite the growing knowledge about AA, its exact cause still needs to be understood. However, immunity and genetic factors are affirmed to be critical in AA development. While the genome-wide association studies proved the innate and acquired immunity involvement, AA mouse models implicated the IFN-γ- and cytotoxic CD8+ T-cell-mediated immune response as the main drivers of disease pathogenesis. The AA hair loss is caused by T-cell-mediated inflammation in the HF area, disturbing its function and disrupting the hair growth cycle without destroying the follicle. Thus, the loss of HF immune privilege, autoimmune HF destruction mediated by cytotoxic mechanisms, and the upregulation of inflammatory pathways play a crucial role. AA is associated with concurrent systemic and autoimmune disorders such as atopic dermatitis, vitiligo, psoriasis, and thyroiditis. Likewise, the patient's quality of life (QoL) is significantly impaired by morphologic disfigurement caused by the illness. The patients experience a negative impact on psychological well-being and self-esteem and may be more likely to suffer from psychiatric comorbidities. This manuscript aims to present the latest knowledge on the pathogenesis of AA, which involves genetic, epigenetic, immunological, and environmental factors, with a particular emphasis on immunopathogenesis.
Topics: Alopecia Areata; Humans; Animals; Hair Follicle
PubMed: 38891839
DOI: 10.3390/ijms25115652 -
BMC Infectious Diseases Jun 2024Cutaneous Leishmaniasis (CL) is caused by protozoan parasite called Leishmania. It is endemic in more than 100 countries globally. Despite its vast prevalence and impact...
INTRODUCTION
Cutaneous Leishmaniasis (CL) is caused by protozoan parasite called Leishmania. It is endemic in more than 100 countries globally. Despite its vast prevalence and impact on quality of life, it is one of the most neglected tropical dermatological diseases. The CL burden has often been expressed based on the physical disfigurement caused by the disease. However, considering the impact of the disease beyond physical impairment and changes in patients' appearance would help to better understand the disease as a public health problem. The effect of CL on patients' quality of life was determined in this study.
METHODS
The data that were related to quality of life were collected using Standard one-week Dermatology Life Quality Index (DLQI) questionnaire. The questions were categorized under seven domains: symptoms & feelings, daily activities, work and school, leisure, personal relationships, and treatment. Each question was scored on a three-point scale: Very much (3), A lot (2), A little (1), Undecided (0), and Not at all (0). The sum of the scores lied between 0 and 48. A higher score shows worse quality of life. The data were entered and analysed using Statistical Package for Social Science 23. Frequencies and proportions were used to describe the data. Differences were considered statistically significant at p < 0.05.
RESULTS
The lives of the majority of CL patients (60.7%) were significantly affected by CL. The quality of life of patients was moderately impacted by CL in 25% of the CL patients. In 32.1% of the CL patients, the effect of CL on patients' quality of life was very large. The quality of one CL patient's life was extremely largely affected. The disease had a small effect on 32.1% of the CL patients. Personal relationship was the most affected domain followed by symptoms and feelings and treatment. Future study including rural regions is required.
CONCLUSION
The Dermatology Life Quality Index demonstrates that CL has a small to extremely very large negative effect on the quality of life of patients.
Topics: Humans; Quality of Life; Leishmaniasis, Cutaneous; Male; Female; Adult; Middle Aged; Surveys and Questionnaires; Young Adult; Adolescent; Aged; Child
PubMed: 38890616
DOI: 10.1186/s12879-024-09518-3