Activities of the Research Group for Comprehensive Research of Gene Mutation-related Rare and Intractable Diseases of the Skin within the Project for Research on Intractable Diseases of the Ministry of Health, Labor, and Welfare of Japan.

The Hashimoto Research Group for Comprehensive Research of Gene Mutation-related Rare and Intractable Diseases of the Skin is a contributor to the Project for Research on Intractable Diseases of the Ministry of Health, Labor, and Welfare (MHLW) of Japan. Our research group performs clinical research on 23 rare intractable genetic skin diseases that are classified into eight disease groups. Among the 23 diseases, 17 are mainly studied by our research group, and 6 diseases are studied in collaboration with other research groups.

Practical guide for the diagnosis and treatment of localized and generalized cutaneous pruritus (chronic itch with no underlying pruritic dermatosis).

Itch, also known as pruritus, is one of the most prevalent symptoms observed in dermatological practices. Itch frequently arises from primary pruritic dermatoses, although it may also manifest in the absence of a primary pruritic skin rash. The latter itchy condition is referred to as "cutaneous pruritus" in the Japanese guidelines published in 2020.

Comparison of outcomes between surgery and chemoradiotherapy after endoscopic resection for pT1a-MM with lymphovascular invasion or pT1b esophageal squamous cell carcinoma: Japanese multicenter propensity score-matched study.

Background: Lymphovascular invasion (LVI) or pT1b is noncurative after endoscopic resection (ER) for esophageal squamous cell carcinoma (ESCC), and therefore surgery or chemoradiotherapy (CRT) is recommended. However, there has been debate regarding which treatment has better outcomes and whether individual risks should be considered.

Methods: This was a multicenter, retrospective study conducted at 65 hospitals in Japan.

Discovery of anti-SARS-CoV-2 S2 protein antibody CV804 with broad-spectrum reactivity with various beta coronaviruses and analysis of its pharmacological properties in vitro and in vivo.

The SARS-CoV-2 pandemic alerted the potential for significant harm due to future cross-species transmission of various animal coronaviruses to human. There is a significant need of antibody-based drugs to treat patients infected with previously unseen coronaviruses. In this study, we generated CV804, an antibody that binds to the S2 domain of SARS-CoV-2 spike protein, which is highly conserved across the coronavirus family and less susceptible to mutations.

Ocular Mucous Membrane Pemphigoid Demonstrates a Distinct Autoantibody Profile from Those of Other Autoimmune Blistering Diseases: A Preliminary Study.

: Ocular predominant mucous membrane pemphigoid (oMMP) is a severe subtype of autoimmune blistering disease (AIBD), which can result in scarring and vision loss. The diagnosis of oMMP is challenging as patients often have undetectable levels of circulating autoantibodies by conventional assays. Likewise, the principal autoantigen in oMMP has been an area of debate.

Relationship between respiratory sarcopenia and respiratory muscle weakness in community-dwelling older adults: a preliminary cross-sectional study.

[Purpose] Using new diagnostic criteria, this study aimed to clarify the relationship between respiratory sarcopenia and respiratory muscle weakness in community-dwelling older adults. [Participants and Methods] Basic information, body composition, motor function, respiratory function, and respiratory muscle strength were analyzed for 43 elderly community residents who participated in a health promotion program between 2021 and 2023. Respiratory sarcopenia and respiratory muscle weakness were evaluated based on maximal intraoral pressure and skeletal muscle index.

Immunohistopathological analyses of a case of pemphigus vegetans with antibodies against desmoglein 1 and desmocollins 1-3.

Pemphigus vegetans is a rare type of pemphigus characterized by vegetative lesions primarily localized to the intertriginous area. Despite its unique clinical presentation, the underlying pathomechanism remains unclear owing to the rarity of the disease. We report a case of pemphigus vegetans with antibodies against desmoglein 1 and desmocollins 1-3.

Desmosomal Hyper-Adhesion Affects Direct Inhibition of Desmoglein Interactions in Pemphigus.

During differentiation, keratinocytes acquire a strong, hyper-adhesive state, where desmosomal cadherins interact calcium ion independently. Previous data indicate that hyper-adhesion protects keratinocytes from pemphigus vulgaris autoantibody-induced loss of intercellular adhesion, although the underlying mechanism remains to be elucidated. Thus, in this study, we investigated the effect of hyper-adhesion on pemphigus vulgaris autoantibody-induced direct inhibition of desmoglein (DSG) 3 interactions by atomic force microscopy.

Atopic Dermatitis Itch: Scratching for an Explanation.

Chronic pruritus is a cardinal symptom of atopic dermatitis (AD). The mechanisms underlying atopic itch involve intricate crosstalk among skin, immune components, and neural components. In this review, we explore these mechanisms, focusing on key players and interactions that induce and exacerbate itch.