PACHYDERMOPERIOSTOSIS - ANALYSIS OF THE CONNECTIVE-TISSUE ABNORMALITYIN ONE FAMILY

Background: Pachydermoperiostosis (PDP) is a rare hereditary disease c haracterized by hyperostosis, clubbing of fingers, coarse skin, and ab normalities in other organs, such as the gastrointestinal tract. Previ ous studies have disclosed several abnormalities in the connective tis sue in these patients. Objective: The purpose of the study was to inve stigate connective tissue abnormalities in one family with PDP. Method s: Clinical features were evaluated; x-ray, immunohistochemical, and e lectronmicroscopic studies were performed; and markers of collagen met abolism and lysosomal enzymes were determined. Results: Immunohistoche mical and ultrastructural studies revealed accumulation of tenascin, g lycosaminoglycans, and fibrillar material in apparently disorganized m icrofibrils of elastic fibers. Osteocalcin levels in the serum were in creased, but synthesis and degradation markers of collagen in the seru m were not altered. No evidence of a lysosomal enzyme deficiency was f ound. Conclusion: Acidic mucopolysaccharides and some fibrillar materi al 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.