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 arc, however, a large number of different and in homogenous 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 undertermined number of pathological conditions is accompanied by the deposition of more or less defined storage materials in cutaneous tissue elements. II 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.