Heritable metabolic storage diseases.
During the last decade, examinations of skin biopsies have gained increasing importance in the search for a better understanding and facilitated diagnosis of metabolic storage diseases. In addition to biochemical and tissue culture techniques, light- and electron-microscopic investigations have been recommended in a number of such disorders (1-6). There are, however, a large number of different and inhomogeneous conditions to be identified in this group. At present, approximately 300 diseases can be identified as inborn errors of metabolism by the determination of a biochemically well-established underlying defect. Moreover, a yet undetermined number of pathological conditions is accompanied by the deposition of more or less defined storage materials in cutaneous tissue elements. It appears, therefore, premature to propose a systematic dermatopathology of metabolic storage diseases, and the following contribution should be understood as an attempt to indicate possibilities and chances by quoting some representative examples.
D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis / Q000473:pathology*; D006008:Glycogen Storage Disease / Q000175:diagnosis / Q000473:pathology; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis / Q000473:pathology*; D009081:Mucolipidoses / Q000175:diagnosis / Q000473:pathology; D009083:Mucopolysaccharidoses / Q000175:diagnosis / Q000473:pathology; D012867:Skin / Q000473:pathology*; D013106:Sphingolipidoses / Q000175:diagnosis / Q000473:pathology