Progeria (Hutchinson-Gilford)

A new case with the typical features of progeria (Hutchinson-Gilford) occurred. Histology of scleroderma-like skin revealed hyalinization of the connective tissue at the lower levels of the dermis and marked reduction of the subcutaneous tissue. Scanning electron microscopy of scalp hairs revealed abnormal longitudinal depressions with minor cuticular defects. Plasma free fatty acids, glycerol, and glucose levels during a glucose tolerance test were within normal limits while the insulin response was flat. Findings from blood lipid studies were normal. Urinary excretion of amino acids and glycosaminoglycans was also normal. Two separate attempts to obtain fibroblasts from skin explants from scleroderma-like skin failed.