Publications by authors named "S Imakado"
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.
A 50-year-old man developed a sterile cavernosal abscess followed by prominent features of necrotizing neutrophilic dermatosis. We conducted a literature review, which revealed that aseptic abscesses in the corpus cavernosum occur in association with neutrophilic dermatosis. Patients with this condition frequently receive unnecessary antibiotic treatment and surgical interventions.
View Article and Find Full Text PDFWe report on a 44-year-old woman who was diagnosed with toxic epidermal necrolysis (TEN) during the recovery phase from autoimmune limbic encephalitis with anti-glutamate receptor antibodies. Both, autoimmune limbic encephalitis and TEN are very rare diseases. The co-existence of the two diseases has not yet been reported.
View Article and Find Full Text PDFThe authors report a case of mucinous carcinoma of the male breast firstly diagnosed as a mucinous carcinoma of the skin. The immunohistochemical results of this tumor were as follows: cytokeratin7 (-), gross cystic disease fluid protein 15 (-), p63 (-), estrogen receptor (+), and progesterone receptor (+) for the primary nodule; cytokeratin7 (-), thyroid transcription factor-1 (-), gross cystic disease fluid protein 15 (-), p63 (-), cytokeratin8 (+), cytokeratin18 (+), and cytokeratin20 (+) for the recurrent nodule. The tumor cells had cytokeratin7 (-)/ cytokeratin20 (+) phenotype and it was very unusual for mucinous carcinoma of the breast.
View Article and Find Full Text PDFMerkel cell carcinoma (MCC), an aggressive skin cancer with neuroendocrine features, has been found to be associated with a new type of human polyomavirus called Merkel cell polyomavirus (MCV). Patients diagnosed with MCC have a significantly increased risk of a second primary cancer. We report here the first case of two primary MCCs arising on the face at different times, associated with MCV infection.
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