Publications by authors named "Eiko Nagamoto"
Article Synopsis
- - Neu-Laxova syndrome (NLS) is a rare genetic disorder linked to mutations that affect the development of the central nervous system and skin, specifically involving genes necessary for producing l-serine, which is crucial for skin barrier function.
- - A study of a Japanese family with NLS identified a new mutation and a chromosome inversion, and revealed that the patient's skin had significantly lower levels of ceramides compared to healthy individuals.
- - This research broadens our understanding of NLS clinical features, providing insights into the mechanisms behind skin issues like ichthyosis in patients with deficiencies in phosphoglycerate dehydrogenase.
A 28-year-old man undergoing treatment for hemophagocytic syndrome developed Paecilomyces lilacinus infection in skin ulcers on the face and in the tracheotomy stoma. While his bone marrow was suppressed by chemotherapy with dexamethasone, cyclosporin and etoposide for hemophagocytic syndrome, dental infection led to subacute necrotizing fasciitis caused by Pseudomonas aeruginosa on the right side of the face, resulting in a large area of soft tissue defects. Etoposide was discontinued, and prophylactic treatment with itraconazole was initiated.
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