Publications by authors named "Ryo Narazaki"
Article Synopsis
- Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic condition caused by a mutation in the lamin-A gene, leading to accelerated aging and distinct physical features.
- Affected individuals, like the reported 9-year-old boy, can suffer serious health issues such as cerebral infarction due to vascular problems, despite having normal telomere lengths.
- Early diagnosis is crucial, and genetic testing can help identify HGPS in infants, potentially allowing for timely treatment options.
Background: Linear nevus sebaceous syndrome (LNSS) is a rare congenital neuroectodermal disorder characterized by involvement of the skeleton and central nervous system.
Case: We report the case of a 5-year-old girl who had LNSS with hypophosphatemic rickets and multiple fractures of her extremities. Biochemical tests revealed a high serum level of fibroblast growth factor-23 (FGF-23) but normal levels of immunoglobulin E (IgE) and parathormone (PTH).