-
International Journal of Molecular... Jun 2024Reactive pustular eruptions (RPEs) can manifest in a variety of conditions, including pustular psoriasis (PP) and adult-onset immunodeficiency syndrome due to...
Reactive pustular eruptions (RPEs) can manifest in a variety of conditions, including pustular psoriasis (PP) and adult-onset immunodeficiency syndrome due to anti-interferon-γ autoantibody (AOID). These RPEs can be attributed to different causes, one of which is genetic factors. However, the genetic basis for pustular skin diseases remains poorly understood. In our study, we conducted whole-exome sequencing on a cohort of 17 AOID patients with pustular reactions (AOID-PR) and 24 PP patients. We found that 76% and 58% of the AOID-PR and PP patients, respectively, carried rare genetic variations within the filaggrin (FLG) gene family. A total of 12 out of 21 SNPs on FLG had previously received clinical classifications, with only p.Ser2706Ter classified as pathogenic. In contrast, none of the FLG3 SNPs identified in this study had prior clinical classifications. Overall, these variations had not been previously documented in cases of pustular disorders, and two of them were entirely novel discoveries. Immunohistochemical analysis of skin biopsies revealed that FLG variants like p.Ser860Trp, p.Gly3903Ter, p.Gly2440Glu, and p.Glu2133Asp caused reductions in FLG levels similar to the pathogenic FLG p.Ser2706Ter. These results highlight rare FLG variants as potential novel genetic risk factors contributing to pustule formation in both AOID and PP.
Topics: Humans; Filaggrin Proteins; Intermediate Filament Proteins; Polymorphism, Single Nucleotide; Female; Male; Asian People; Adult; Middle Aged; Exome Sequencing; Genetic Predisposition to Disease; Psoriasis; Aged; Interferon-gamma; Autoantibodies; Skin
PubMed: 38928170
DOI: 10.3390/ijms25126466 -
Indian Journal of Medical Microbiology Jun 2024The Aeromonadaceae family, comprised of gram-negative bacilli, is ubiquitously distributed across the globe. Infections by Aeromonas species encompass gastroenteritis,...
The Aeromonadaceae family, comprised of gram-negative bacilli, is ubiquitously distributed across the globe. Infections by Aeromonas species encompass gastroenteritis, septicaemia, skin and soft tissue infections (SSTIs), pneumonia, and peritonitis. This report delineates a case of Aeromonas hydrophila infection, manifesting as an array of pustules on the patient's lower extremities subsequent to the ingestion of marine crustaceans, specifically prawns. Prompt diagnosis and the initiation of an appropriate antibiotic regimen are imperative to mitigate the risk of further complications.
PubMed: 38925279
DOI: 10.1016/j.ijmmb.2024.100658 -
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 -
Proceedings (Baylor University. Medical... 2024We present the case of a 55-year-old woman with a 10-day history of a rapidly progressing generalized rash. History was significant for recent increase in turmeric...
We present the case of a 55-year-old woman with a 10-day history of a rapidly progressing generalized rash. History was significant for recent increase in turmeric supplement dose. Clinical presentation was notable for diffuse plate-like yellow scaling of the scalp with lesser involvement of the ears. On the trunk and extremities, erythematous circinate plaques studded with pustules were noted with central trailing scale and desquamation. Laboratory results showed slight elevation of white blood cell count from her baseline but within normal range. Histopathological analysis of two punch biopsies showed spongiotic dermatitis with eosinophils, and subcorneal pustules with eosinophils, respectively, without any organisms. These findings were most consistent with acute generalized exanthematous pustulosis (AGEP). Treatment included oral and topical corticosteroids as well as discontinuation of all dietary supplements. AGEP, a severe cutaneous adverse reaction, is associated most often with antibiotics; however, many other medications, including herbal supplements, have been documented as triggers in the literature. This is only the second reported case of potential turmeric-induced AGEP and the first reported case establishing a dose-related association between turmeric and AGEP. It is important to consider herbal supplements as part of the medical history to guide proper management when assessing a patient with AGEP.
PubMed: 38910822
DOI: 10.1080/08998280.2024.2335873 -
Pediatrics Jul 2024To assess the management and outcomes of afebrile infants who received a pediatric dermatology consultation for pustules and/or vesicles.
OBJECTIVES
To assess the management and outcomes of afebrile infants who received a pediatric dermatology consultation for pustules and/or vesicles.
METHODS
Medical records were reviewed for all infants 60 days of age or younger who received a pediatric dermatology consult across 6 academic institutions between September 1, 2013 and August 31, 2019 to identify those infants with pustules and/or vesicles.
RESULTS
Of the 879 consults, 183 afebrile infants presented with pustules and/or vesicles. No cerebrospinal fluid cultures or blood cultures were positive for bacteria. No concordant positive urine cultures were identified in infants with cutaneous infection. Nine infants were diagnosed with herpes simplex virus (HSV). Five preterm infants were diagnosed with angioinvasive fungal infections.
CONCLUSIONS
No serious bacterial infections attributable to a skin source were identified, yet 53% of these infants received parenteral antibiotics. HSV was diagnosed in 7% of this cohort, 77.8% (7/9) of whom were term infants and 22.2% (2 of 9) of whom were preterm. Angioinvasive fungal infection was diagnosed in 3%, all of whom (100%, 5 of 5) were extremely preterm at <28 weeks gestational age. These findings suggest that in full-term afebrile infants ≤60 days, the likelihood of a life-threatening etiology of isolated pustules or vesicles is low once HSV infection is excluded. In preterm infants with pustules and/or vesicles, a high index of suspicion must be maintained, and broad infectious evaluation is recommended. HSV testing is recommended for all infants with vesicles, grouped pustules and/or punched-out erosions.
Topics: Humans; Infant, Newborn; Infant; Male; Female; Herpes Simplex; Retrospective Studies; Infant, Premature; Anti-Bacterial Agents; Skin Diseases, Vesiculobullous; Dermatology
PubMed: 38910522
DOI: 10.1542/peds.2023-064364 -
American Family Physician Jun 2024Rosacea is a chronic inflammatory skin disease of the central face, affecting 5% of the population. The exact etiology is unknown. A diagnosis is made based on the... (Review)
Review
Rosacea is a chronic inflammatory skin disease of the central face, affecting 5% of the population. The exact etiology is unknown. A diagnosis is made based on the updated 2017 National Rosacea Society Expert Committee guidelines, including fixed erythema, phymatous changes of skin thickening due to sebaceous gland hyperplasia and fibrosis, papules, pustules, telangiectasia, and flushing. Delays in an accurate diagnosis and treatment may occur in skin of color due to difficulty visualizing erythema and telangiectasia. The daily use of sunscreen, moisturizers, and mild skin cleansers and avoidance of triggers are essential aspects of maintenance treatment. Effective topical treatment options include alpha-adrenergic receptor agonists for flushing and ivermectin, metronidazole, and azelaic acid for papules and pustules. Systemic treatments include nonselective beta blockers for flushing, low-dose doxycycline, and isotretinoin for papules and pustules. Rosacea can significantly affect a patient's emotional health and quality of life. A referral for care is recommended for fixed phymatous changes and ocular rosacea. (Am Fam Physician. 2024;109(6):533-542.
Topics: Rosacea; Humans; Dermatologic Agents; Quality of Life; Dicarboxylic Acids
PubMed: 38905551
DOI: No ID Found -
Cureus May 2024Folliculitis decalvans (FD) is a rare type of inflammatory scalp disorder that leads to scarring alopecia. It is classified as primary neutrophilic cicatricial...
Folliculitis decalvans (FD) is a rare type of inflammatory scalp disorder that leads to scarring alopecia. It is classified as primary neutrophilic cicatricial alopecia. FD presents a challenging scenario in clinical dermatology due to its rarity, resistance to treatment, and potential for scarring alopecia. This inflammatory scalp disorder primarily affects middle-aged adults, predominantly males. While its exact pathogenesis remains uncertain, a deficient host immune response to Staphylococcus aureus infection is hypothesized. Therapeutic interventions for FD pose difficulties, with limited treatment options available A 58-year-old female patient presented with a history of follicular papules that gradually progressed to form clusters of pustules, crusting, and hemorrhagic lesions with tufting of hairs on the crown area of the scalp, and was diagnosed with FD. Considering isotretinoin's role in inhibiting abnormal keratinization and inflammation, and rifampicin's ability to eradicate S. aureus, the combination of both provides a comprehensive approach to tackling the underlying factors contributing to FD. Despite previous unsuccessful treatments, combination therapy with isotretinoin and rifampicin yielded a remarkable outcome, prompting further exploration of this approach.
PubMed: 38903375
DOI: 10.7759/cureus.60633 -
Dermatology and Therapy Jun 2024Palmoplantar pustulosis (PPP) is a pruritic, painful, chronic dermatitis that greatly impacts functioning and quality of life and can be difficult to treat. Approved...
Exploratory Efficacy Evaluation of Apremilast for the Treatment of Japanese Patients with Palmoplantar Pustulosis: 32-Week Results from a Phase 2, Randomized, Placebo-Controlled Study.
INTRODUCTION
Palmoplantar pustulosis (PPP) is a pruritic, painful, chronic dermatitis that greatly impacts functioning and quality of life and can be difficult to treat. Approved treatment options for PPP are limited, and many patients do not fully respond to current treatments.
METHODS
This was a randomized, double-blind, placebo-controlled, phase 2 study in Japanese patients with moderate to severe PPP and inadequate response to topical treatment. Patients were randomized 1:1 to receive apremilast 30 mg twice daily or placebo for 16 weeks followed by an extension phase where all patients received apremilast through week 32. PPP Area and Severity Index (PPPASI), modified PPPASI (which evaluates pustules and vesicles separately), and Palmoplantar Severity Index (PPSI) total scores and subscores (erythema, pustules/vesicles, and desquamation/scales) were evaluated over 32 weeks of apremilast treatment. Achievement of ≥ 50% improvement in PPPASI (PPPASI-50) was evaluated at week 16 among baseline demographic and clinical characteristic subgroups.
RESULTS
At week 16, improvements in total score and subscores for PPPASI, modified PPASI, and PPSI, as well as rates of PPPASI-50 were at least moderately greater with apremilast than placebo. Mean PPPASI total score decreased by - 68.3% from baseline to week 32 with continued apremilast treatment. At week 32, mean change from baseline in PPPASI/modified PPPASI subscores ranged from - 58.5% to - 77.0% with apremilast. At week 32, PPSI total score for physician and patient assessments decreased by - 51.3% and - 40.0%, respectively, with continued apremilast treatment. PPPASI-50 response at week 16 was greater with apremilast versus placebo in most demographic and baseline characteristic subgroups.
CONCLUSIONS
Improvements in all PPPASI and PPSI total scores and subscores observed with apremilast over 16 weeks were maintained through 32 weeks in patients with moderate to severe PPP and inadequate response to topical treatment. Rates of PPPASI-50 response at week 16 were mostly consistent across patient subgroups.
CLINICALTRIALS
GOV: NCT04057937.
PubMed: 38896381
DOI: 10.1007/s13555-024-01195-z -
Clinical, Cosmetic and Investigational... 2024Rosacea is a chronic inflammatory skin disease that affects a patient's appearance and quality of life. It mainly affects the midface region and presents as erythema,... (Review)
Review
Rosacea is a chronic inflammatory skin disease that affects a patient's appearance and quality of life. It mainly affects the midface region and presents as erythema, flushing, telangiectasia, papules, pustules, and rhinophyma. Despite its prevalence, the precise pathophysiology of rosacea remains unknown, and novel pharmacological therapies are currently under investigation. Tranexamic acid (TA) is a synthetic, lysine-like compound that competitively inhibits fibrinogen production by synthesizing fibrinolytic enzymes. In addition to its popular application in hemorrhage treatment, TA has been used to manage a number of skin conditions, including melasma, chronic urticaria, and angioedema. TA is a better option for melasma treatment. However, the role of TA in treating rosacea has not yet been systematically elucidated. In this study, we reviewed all available literature on the use of TA for rosacea treatment. The included articles examined the therapeutic effects of TA in patients with rosacea, including traditional methods such as oral and topical administration and more novel approaches such as intradermal injections, microneedling, and laser-assisted delivery. Several recent clinical studies demonstrated that TA alleviates rosacea symptoms by restoring the permeability barrier, ameliorating the immune reaction, and inhibiting angiogenesis. In this review, we summarized the function and potential application of TA in rosacea treatment, aiming to facilitate the implementation of clinical applications.
PubMed: 38895607
DOI: 10.2147/CCID.S473598 -
The Journal of Dermatology Jun 2024
Spesolimab improved pustules on the palms and soles that were refractory to tumor necrosis factor inhibitors and interleukin-17 inhibitors in a patient with generalized pustular psoriasis: A case report.
PubMed: 38874489
DOI: 10.1111/1346-8138.17337