Menkes' kinky hair syndrome: ultrastructural cutaneous alterations of the elastic fibers.

Menkes' kinky hair syndrome is associated with the defective functioning of several copper-dependent enzymes due to impaired copper absorption, transport, or metabolism. Lysyl oxidase is a copper-requiring enzyme that catalyzes the oxidative deamination of lysyl residues linking two adjacent chains of tropoelastin polypeptides into an insoluble network. Elastin of the connective tissue is the responsible protein for the elastic properties of the skin. We report transmission electron microscopy findings concerning elastic fiber alterations of the skin in three patients with Menkes' syndrome. The reticular dermis showed marked changes in the elastic fibers with a paucity of the central amorphous component while retaining normal microfibrillary material. These ultrastructural observations, to the best of our knowledge, are reported for the first time in skin from these patients and may be readily interpreted in terms of a specific biochemical defect in elastogenesis.