Wrinkly Skin Syndrome: Ultrastructural Alterations of the Elastic Fibers

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Abstract
We report the clinical and pathologic features of a patient with wrinkly skin syndrome. The essential clinical features were wrinkly skin with poor elasticity over the abdomen and on the dorsum of the hands and feet, increased palmar and plantar creases, and a prominent venous pattern over the chest. On light microscopy, histopathologic findings included appreciable heterogeneity in the structure, amount, and distribution pattern of elastic fibers. Agglutination and fragmentation of the microfibrillar component and a remarkable decrease in elastin were the major ultrastructural features. The differential diagnosis with other connective tissue disorders is discussed.