Pachydermoperiostosis: analysis of the connective tissue abnormality in one family.

BACKGROUND

Pachydermoperiostosis (PDP) is a rare hereditary disease characterized by hyperostosis, clubbing of fingers, coarse skin, and abnormalities in other organs, such as the gastrointestinal tract. Previous studies have disclosed several abnormalities in the connective tissue in these patients.

OBJECTIVE

The purpose of the study was to investigate connective tissue abnormalities in one family with PDP.

METHODS

Clinical features were evaluated; x-ray, immunohistochemical, and electronmicroscopic studies were performed; and markers of collagen metabolism and lysosomal enzymes were determined.

RESULTS

Immunohistochemical and ultrastructural studies revealed accumulation of tenascin, glycosaminoglycans, and fibrillar material in apparently disorganized microfibrils of elastic fibers. Osteocalcin levels in the serum were increased, but synthesis and degradation markers of collagen in the serum were not altered. No evidence of a lysosomal enzyme deficiency was found.

CONCLUSION

Acidic mucopolysaccharides and some fibrillar material accumulate in the dermis of patients with PDP. Increased levels of osteocalcin in serum indicate higher osteoblastic activity. Markers of synthesis and degradation of collagen were not altered.