Publications by authors named "Takenori Yoshikawa"
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
- * The study presents cases of siblings and an additional patient with ABCA12 variants who exhibited symptoms not typical of congenital ichthyosis, instead resembling pityriasis rubra pilaris (PRP).
- * All three patients displayed unique skin characteristics, such as geographic unaffected areas, and had similar histological features to PRP, indicating a broader range of possible symptoms associated with ABCA12 variants than previously understood.
Pathogenic variants in MPO, which encodes the myeloperoxidase, were reported as causative genetic defects in several cases of generalised pustular psoriasis (GPP) in addition to patients with myeloperoxidase deficiency in 2020. However, which clinical subtypes of GPP patients have pathogenic variants in MPO remains largely undetermined, and elucidating this is clinically important. The present report outlines a mild case of GPP with a rare missense heterozygous variant, c.
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- Heterozygous mutations leading to JAK-STAT hyperactivity are linked to a multi-organ immune disorder.
- A new mutation, H596D, was found in a patient with an autoinflammatory disease, liver issues, and autism.
- Mice engineered with this mutation displayed similar traits and showed gene expression changes tied to tyrosine kinases and signaling linked to cognitive deficits seen in autism.
Article Synopsis
- The study investigates how topical minoxidil may affect patients with hypotrichosis linked to autosomal recessive woolly hair, who have specific genetic variants.
- This is a nonrandomized clinical trial, meaning participants were not randomly assigned to treatment or control groups.
- The goal is to analyze whether the treatment can improve hair growth in these patients with a genetic condition that results in hair loss.
A 47-year-old man with acute myeloid leukemia and myelodysplastic-related changes relapsed after an allogenic bone marrow transplant and received a cord blood transplant as salvage therapy. The patient developed febrile neutropenia that was resistant to broad-spectrum antibiotics and multiple, painful, nodular skin lesions on his trunk and extremities before engraftment. A skin biopsy and blood culture found mold, and the subsequent microscopic examination, mass spectrometry, and DNA sequencing of the fungal colonies identified Fusarium solani.
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