Original Article

Journal of Investigative Dermatology (1996) 106, 70–74; doi:10.1111/1523-1747.ep12327267

Alteration of Matrix Macromolecule Synthesis by Fibroblasts from a Patient with Pachydermoperiostosis

Yanusz Wegrowski1, Philippe Gillery1, Hervé Serpier1,2, Nadine Georges1, Patrick Combemale3, Bernard Kalis2 and François-Xavier Maquart1

  1. 1Laboratoire de Biochimie-CNRS EP 89, Faculté de Médecine, Reims, France
  2. 2Laboratoire de Recherche Biomédicale en Dermatologie, Faculté de Médecine, Reims, France
  3. 3Clinique de Dermatologie, Hôpital d'lnstruction des Armées Desgenettes, Lyon, France

Received 4 April 1995; Revised 11 July 1995; Accepted 29 August 1995.

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Abstract

Pachydermoperiostosis (primary hypertrophic osteoarthropathy) is a very rare genetic disease characterized by pachydermia, periostosis, arthralgia and finger clubbing. Its pathophysiology is still unclear, but previous studies have reported connective tissue hypertrophy in the skin of these patients. We investigated the synthesis of collagen, fibronectin and proteoglycans by fibroblasts from affected and unaffected skin from one patient with pachydermoperiostosis and four normal donors. We found that collagen synthesis was largely decreased in fibroblasts from the diseased skin, whereas the synthesis of the small dermatan-sulfate-containing proteoglycan decorin strongly increased. Fibroblasts from the unaffected skin of the patient exhibited syntheses of these macromolecules similar to control fibroblasts from healthy donors. Northern blot and dot blot analyses showed decreased pro alpha1(I) collagen in patient's affected and unaffected skin fibroblasts whereas increased decorin mRNA levels were found in fibroblasts from the patient's affected skin. No change in cell proliferation was observed. These data demonstrate an alteration of fibroblast biosynthetic activity in the skin lesions of pachydermoperiostosis, which may be responsible, at least in part, for the patient's phenotype.

Keywords:

collagen, proteoglycans, decorin, Primary hypertrophic osteoarthropathy

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