An 11-year-old patient with clinically typical acrogeria is presented. She had wrinkled ‘old-appearing’ acral skin, thin skin on the whole integument, grooved tip of nose, mottled hyperpigmentation of fold regions and thickened dystrophic toe nails. Histologically, the epidermis was flattened, dermis thinned and the connective tissue densely packed with very few cellular elements. Electron microscopic examination revealed partially abnormal collagen fibers with varying caliber, degenerated elastic fibers and dystrophic fibroblasts. The patient’s fibroblasts produced normal amounts of apparently normal type I and III collagen as analyzed after radioactive labeling. Also, the levels of cytoplasmic mRNA for both of these collagens were similar in acrogeria and control cells.

Keywords:
Acrogeria, Collagen, Connective tissue
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© 1987 S. Karger AG, Basel
1987
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