Morphological study of skin biopsy specimens: a contribution to the diagnosis of metabolic disorders with involvement of the nervous system.

Martin, Jean‐Jacques; Ceuterick, C.

doi:10.1136/jnnp.41.3.232

Cited by 45 publications

(8 citation statements)

References 53 publications

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“…The skin biopsy showed lysosomal storage in fibroblasts and Schwann cells of nonmyelinated nerves and in the vascular endothelium. The lysosomal content was pleiomorphic with the typical ring-like membranous profiles [6]. Eccrine glands were intact.…”

Section: Case Reportmentioning

confidence: 97%

“…Biopsy studies have shown constant involvement of skin fibroblasts, endothelial cells, and Schwann cells of unmyelinated nerve fibres [6] and prominent vacuolation of peripheral lymphocytes [10]. Studies of post-mortem tissues revealed significant involvement of mesenchymal cells, generally contrasting with discrete involvement of epithelial cells and neurons.…”

Section: Introductionmentioning

confidence: 99%

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Mucolipidosis type II with evidence of a novel storage site

Elleder

Martin

1998

Virchows Archiv

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In a case of infantile mucolipidosis type II (I-cell disease), storage was identified at autopsy in serous-type secretory cells in exocrine pancreas, in the tracheal and sublingual salivary glands and in the chief (zymogenic) cells of the gastric oxyntic glands, suggesting a systemic involvement of this type of secretory cells. The content of specific secretory granules was inversely proportional to the intensity of the storage process. The mucus-producing cells were not affected. The serous glandular system is a novel storage site in I-cell disease. Review of archival material in three further cases confirmed the findings.

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Section: Case Reportmentioning

confidence: 97%

Section: Introductionmentioning

confidence: 99%

Mucolipidosis type II with evidence of a novel storage site

Elleder

Martin

1998

Virchows Archiv

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“…7b). Such inclusions have been found in dermal macrophages and Schwann cells, but occasionally also in keratinocytes, Langerhans cells, Merkel cells, smooth muscle cells, endothelial cells, eccrine serous cells and lymphocytes (3,4,6,17).…”

Section: Example E: Ceroidlipofuscinosismentioning

confidence: 97%

“…Most of the inclusions measure less than 1 micron and belong to the membranous cytoplasmic body type. Zebra bodies, amorphous granules and concentric lamellar or vacuolar structures can also be found (3,6,10). The distribution pattern of the inclusion bodies in Sandhoffs disease is different frotn other lipidoses as for instances metachromatic leucodystrophy or Fabry's disease, and shows a widespread tissue involvement.…”

Section: Muco-and Sphingolipidosesmentioning

confidence: 99%

Heritable metabolic storage diseases

Gebhart

1985

J Cutan Pathol

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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.

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“…The value of the skin and rectal biopsies in lysosomal storage diseases has been proven in a very large number of cases (1,5,6,8,12,14). Evaluation of topographical and ultrastructural features of inclusions indicate a disease or a group of disorders.…”

Section: Discussionmentioning

confidence: 99%