Publications by authors named "Masashi Akiyama"
Generalized pustular psoriasis (GPP) is a severe autoinflammatory keratinization disease (AiKD) characterized by acute flares of widespread sterile pustules and high fever. GPP is potentially life-threatening. Recently clarified genetic predisposing factors for GPP suggest that the excessive activation of innate immune pathways in the skin, including of interleukin (IL)-1 and IL-36 signaling, plays a significant role in the GPP pathogenesis.
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- Japan has reported cases of Buruli ulcer (BU), a rare disease caused by Mycobacterium ulcerans subsp. shinshuense, dating back to 1982, with an increase in cases, especially in the last decade.
- Out of 87 total reported cases to date, 50 occurred within the last ten years, indicating a rising trend.
- The country's advanced healthcare system aids in the investigation and treatment of BU, but a lack of awareness among medical professionals often leads to delayed diagnoses, highlighting the need for increased education and awareness efforts.
Article Synopsis
- Generalized pustular psoriasis (GPP) is a serious skin condition characterized by recurrent, sterile pustules, primarily driven by the cytokine interleukin (IL)-36.
- A patient with a specific genetic variant did not respond adequately to treatment with spesolimab, which blocks IL-36 receptor signaling, as it helped reduce existing symptoms but failed to prevent new flare-ups.
- After noticing the resistance to spesolimab, bimekizumab, an antibody targeting IL-17A/IL-17F, was introduced and successfully resolved the patient's pustules and erythema, prompting a discussion on the underlying mechanisms of the resistance to spesolimab.
Article Synopsis
- Atopic dermatitis (AD) is a chronic skin disease characterized by intense itching, and new treatments like dupilumab have been developed but predicting the right treatment for each patient is challenging.
- A study involving 110 AD patients aimed to identify factors and biomarkers that could indicate how well patients might respond to dupilumab, using various scales for assessment.
- Findings showed that higher baseline serum LDH levels and certain comorbidities, like food allergies, were linked to poorer treatment outcomes, suggesting these could help guide treatment decisions for AD patients.
Background: Hen's egg exposure through impaired skin barrier is considered a major mechanism of sensitization to eggs. However, the impact of filaggrin (FLG) gene loss-of-function mutations on the natural history of egg sensitization lacks consensus among studies.
Objective: To evaluate the association between the natural course of egg sensitization and FLG mutations.
We describe a case of erythema induratum of Bazin (EIB) that presented recurrently on the extremities during treatment with anti-tuberculosis medications. The anti-tuberculosis medications were effective, so they were continued despite the occurrence of the EIB lesions, and those lesions disappeared 5 months after first appearing. EIB is currently considered a multifactorial disorder with many different causes, with tuberculosis being an example, and it is thought to be a hypersensitive immune response to .
View Article and Find Full Text PDFBackground: Anti-programmed cell death-1 (ligand-1) antibody [PD-(L)1-Ab] can cause destructive thyroiditis and/or hypothyroidism. In addition, tyrosine kinase inhibitors (TKIs) frequently induce hypothyroidism. The aim of this prospective study is to examine the incidence and clinical characteristics of thyroid dysfunction induced by combination therapy of a PD-(L)1-Ab and TKI [PD-(L)1-Ab/TKI].
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- - The IL-1 superfamily, particularly IL-36, plays a crucial role in regulating immune responses and maintaining balance between the innate and adaptive immune systems, with three isoforms acting as agonists and one as an antagonist.
- - IL-36 isoforms activate signaling pathways that can lead to inflammatory responses; when the antagonist IL-36Ra is involved, it can inhibit these pathways, preventing excessive inflammation.
- - Imbalances in the IL-36 family are linked to various inflammatory diseases, especially generalized pustular psoriasis (GPP), where controlling IL-36 signaling may improve clinical outcomes across multiple skin and systemic conditions.
Article Synopsis
- There is currently no effective treatment for epidermolytic ichthyosis (EI), a condition caused by genetic mutations in keratin genes (KRT1 or KRT10), leading to skin abnormalities.
- Patients with ichthyosis with confetti (IWC) exhibit some areas of normal skin due to genetic changes that occur in the affected tissues.
- A clinical trial was conducted to evaluate the use of cultured epidermal autografts (CEAs) derived from revertant skin cells, which showed varying success in preventing recurrence of ichthyosis lesions after transplantation, with 100% of patients experiencing some level of improvement four weeks post-transplant.
Article Synopsis
- Autosomal recessive congenital ichthyoses (ARCI) is a genetic skin condition caused by mutations in at least 12 genes, primarily ABCA12, resulting in different types like congenital ichthyosiform erythroderma and lamellar ichthyosis.
- This study aimed to identify previously unknown pathogenic variants in ABCA12 and update the understanding of how these genetic changes affect patient symptoms.
- Researchers discovered 11 new ABCA12 variants and confirmed their impact through genetic sequencing, increasing the knowledge of disease severity and phenotypes associated with these genetic mutations in ichthyosis patients.
Article Synopsis
- Whole-exome and whole-genome sequencing have helped uncover the causes and mechanisms behind inflammatory keratinization diseases, leading to the classification of "autoinflammatory keratinization diseases (AiKDs)" since 2017.
- AiKDs are characterized by the abnormal activation of innate immunity in the skin, which results in hyperkeratosis and includes conditions like generalized pustular psoriasis and porokeratosis.
- The classification of AiKDs is evolving, as more diseases are identified under this category, enhancing our understanding of their underlying mechanisms and informing treatment options.