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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 -
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 -
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 -
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 -
Photodiagnosis and Photodynamic Therapy Jun 2024Severe acne, characterized by cysts and nodules, can significantly impact a patient's self-image and quality of life [1]. In China, first-line treatments for severe acne...
Severe acne, characterized by cysts and nodules, can significantly impact a patient's self-image and quality of life [1]. In China, first-line treatments for severe acne typically include oral isotretinoin, topical benzoyl peroxide, and oral or topical antibiotics [2]. However, due to concerns about safety, oral isotretinoin and antibiotics are not recommended for lactating women, posing challenges in treating acne in this population and often leading to emotional distress. While photodynamic therapy has shown effectiveness in patients unwilling to take oral medications [3], treating severe acne during lactation remains a complex issue with limited research available. In this unique case, fire needle combined with photodynamic therapy was successfully utilized to address severe acne in a lactating patient. Following treatment, the patient experienced clearance of cysts, nodules, and pustules, as well as an improvement in depressive symptoms, yielding significant outcomes. Nevertheless, the efficacy and safety of this combined approach warrant further investigation through clinical trials.
PubMed: 38848882
DOI: 10.1016/j.pdpdt.2024.104234 -
Indian Dermatology Online Journal 2024Trichostasis spinulosa is a disorder of hair follicles characterized by the retention of vellus telogen club hair, leading to the formation of comedo-like lesions. It...
Trichostasis spinulosa is a disorder of hair follicles characterized by the retention of vellus telogen club hair, leading to the formation of comedo-like lesions. It usually presents over the face and is frequently asymptomatic. We report a 53-year-old female who presented with multiple itchy, discrete, bluish-black, 2-3 mm comedo-like follicular papules and pustules on her breast and lower abdomen for the past 2 years. dermoscopy showed keratotic plugs with a tuft of hair. Extraction dermoscopy yielded a cystic structure filled with keratin and multiple vellus telogen club hairs. Histology showed a cyst lined by squamous epithelium containing abundant laminated keratinous debris and a vellus hair shaft. Truncal or breast involvement, as seen in the present case, is relatively rare, and can be pruritic, causing significant morbidity due to itching and secondary bacterial infections. Dermoscopy, especially extraction dermoscopy, can show diagnostic features and obviate the need for abiopsy.
PubMed: 38845642
DOI: 10.4103/idoj.idoj_544_23 -
Indian Dermatology Online Journal 2024Tinea capitis (TC) is a common fungal infection of the scalp, especially in children. Trichoscopy is a noninvasive technique that allows rapid and magnified observation...
INTRODUCTION
Tinea capitis (TC) is a common fungal infection of the scalp, especially in children. Trichoscopy is a noninvasive technique that allows rapid and magnified observation of the hair with the visualization of morphologic features that are often imperceptible to the naked eye.
AIM
This study aimed to evaluate the usefulness of trichoscopy in clinical diagnosis and to study various clinico-morphological patterns of TC.
MATERIALS AND METHODS
This cross-sectional, observational study included 140 clinically diagnosed cases of TC seen during a period of 1 year (April 2021 to March 2022). All patients were evaluated using a dermoscope (DermLite DL4 Multispectral 3 Gen, San Juan Capistrano, CA, USA,10×).
RESULTS
The prevalence rate of TC in this study was 2.69 per thousand population. The most common clinical variant was gray patch followed by kerion and black dot, and the most common etiological agent was . The characteristic trichoscopic features were as follows: comma hairs (80%), followed by corkscrew hairs (68.6%), bent hairs (54.2%), zigzag hairs (35.7%), and morse code-like hairs (15%). Other findings included scaling (89.2%), followed by black dot (67.1%), broken hairs (42.8%), and crusting and pustules (32.1% each). Comma and corkscrew-shaped hairs were most common in the black dot type, whereas zigzag, bent hairs, and morse code hairs were common in the gray patch type of TC. There was a significant association between trichoscopic findings and type of TC.
CONCLUSION
Trichoscopy can be considered a novel tool for rapid diagnosis and selection of the appropriate therapy and in the monitoring of treatment efficacy in TC.
PubMed: 38845633
DOI: 10.4103/idoj.idoj_439_23 -
Frontiers in Pediatrics 2024This article reports a case of neonatal incontinentia pigmenti onset in only one male monozygotic twin with characteristic skin lesions after birth followed by severe...
BACKGROUND
This article reports a case of neonatal incontinentia pigmenti onset in only one male monozygotic twin with characteristic skin lesions after birth followed by severe cerebrovascular lesions.
CASE PRESENTATION
A male infant, the first of monozygotic twins, was born with multiple yellow pustules all over his body, repeated new herpes at different sites during the course of the disease, aggravated by fusion, warty crusts, and hyperpigmentation; biopsy pathology suggested eosinophilic spongiform edema of the skin. Peripheral blood eosinophils were significantly elevated, and brain magnetic resonance imaging revealed diffuse multiple cystic and lamellar abnormal signal areas in the left frontal and parietal lobes. On day 30, the infant showed neurological symptoms, such as poor response and apnea, and an emergency cranial computed tomography scan revealed abnormal changes in the left cerebral hemisphere and bilateral cerebellum. After admission, he was given a potassium permanganate bath and topical mupirocin for 1 month, and the skin abnormalities improved. He was treated with mechanical ventilation and vasoactive drugs for 2 days after the cerebrovascular accident, and died the same day after the parents chose hospice care. No deletion variants or point mutations were detected in subsequent genetic tests, and chromosomal copy number variation tests revealed different degrees of chimeric duplications and deletions in different regions of chromosomes Y and 3. The parents were healthy, and his twin brother had normal growth and development with no abnormalities at multiple follow-up visits.
CONCLUSION
Neonatal incontinentia pigmenti in only one male monozygotic twin is extremely rare and the genetic diagnosis is challenging. Awareness of the combined cerebrovascular lesions needs to be enhanced, and potential prevention and treatment methods need to be explored to improve the prognosis.
PubMed: 38832002
DOI: 10.3389/fped.2024.1338054 -
Frontiers in Medicine 2024Acrodermatitis enteropathica (AE, OMIM 201100) is a rare autosomal recessive dermatosis characterized by periorificial dermatitis, diarrhea, alopecia, and hypozincaemia...
Acrodermatitis enteropathica (AE, OMIM 201100) is a rare autosomal recessive dermatosis characterized by periorificial dermatitis, diarrhea, alopecia, and hypozincaemia due to pathogenic variants of . Herein, we present a case series describing four unrelated patients with AE from Han, Yi, and Tibetan ethnicities in Sichuan region of southwestern China, speculate the hotspot variants of causing AE in Sichuan region and highlight physicians should be alerted to unusual presentations of AE, such as the absence of hypozincaemia and the presence of acne-like lesions. Serum alkaline phosphatase and genetic testing should be considered to accurately evaluate the zinc deficiency in human body and help make the correct diagnosis.
PubMed: 38831989
DOI: 10.3389/fmed.2024.1399511