bromochloroacetic-acid and Lipidoses

Disturbances in the process of normal cornification leading to pathologic scaling provide the pathophysiologic basis for the ichthyoses. These disturbances may result from either abnormalities in protein metabolism (keratinization) (i.e., the "bricks") or in lipid metabolism (i.e., the "mortar") (Fig. 1). The evidence linking the various ichthyoses to defects in protein or lipid metabolism have been reviewed. It is likely that future advances will lead not only to a more complete understanding of the pathogenesis of these disorders, but also will shed significant light on the normal stratum corneum functions of barrier formation and desquamation, as well as lead the way to more rational and effective therapies. In recent years, prenatal diagnosis has been successfully performed in several of the ichthyoses. It is likely that improvements in our ability to prenatally diagnose those disorders will advance hand-in-hand with further progress in unraveling their underlying causes.

Topics: Animals; Cholesterol Esters; Epidermis; Fatty Acids, Essential; Female; Fetal Diseases; Humans; Ichthyosis; Keratins; Lipidoses; Mice; Pregnancy; Prenatal Diagnosis; Refsum Disease; Steryl-Sulfatase; Sulfatases; Syndrome; X Chromosome

Topics: Autopsy; Brain; Cornea; Diagnosis, Differential; Eye Manifestations; Female; Fibroblasts; Galactosidases; Glucuronidase; Glycosaminoglycans; Glycoside Hydrolases; Hexosaminidases; Histocytochemistry; Humans; Infant; Keratins; Lipidoses; Lysosomes; Microscopy, Electron; Mononuclear Phagocyte System; Muramidase; Phospholipids; Retina; Sulfatases

Topics: Adult; Aged; Amyloid; Amyloidosis; Collagen; Diagnosis, Differential; Female; Forearm; Humans; Keratins; Leg Dermatoses; Lichen Planus; Lipidoses; Male; Melanins; Middle Aged; Pruritus; Skin; Skin Diseases; Skin Neoplasms; Staining and Labeling