A sporadk case of Ehlers‐Danlos syndrome type IV Diagnosed by a morphometric study of collagen content

A sporadic cam of a young woman with Ehlers‐Danlos syndrome (EDS) type IV is hscrlbed. Multiple aneurysms of medium‐sized arteries were noted. Histological study revealed deposition of acid mucopolysaccharides in the media of malor arteries and in the intirna of smaller arteries with Intimal thickenlng. Systemic changes related to stenosis were observed in arteries more than 100 μm in diameter. Histologic study revealed hyperplasia of adipocytes in the submucosal layer of the intestines and the trachea, and flbrosis of Langerhans' islets of the pancreas. Typical signs for EDS such as skin hyperelasticity and joint hypermobility, and posltive family history were not present. However, type III collagen was not detected on frozen sections from either the skin or the anterior cerebral artery by imrnunohistochem‐ical quantification. Thus, it was concluded that the present case is a varlant of EDS.