AI Article Synopsis
- Pachydermoperiostosis (PDP) is a rare genetic disorder marked by symptoms such as bone overgrowth, finger clubbing, rough skin, and potential gastrointestinal issues, with earlier studies noting issues in connective tissue.
- The study aimed to explore connective tissue changes in a specific family affected by PDP through various evaluations and tests, including imaging and biochemical analyses.
- Findings showed abnormal accumulation of certain proteins in connective tissue, with elevated serum osteocalcin suggesting increased bone activity, while collagen metabolism markers remained unchanged and no lysosomal enzyme deficiencies were detected.
Article Abstract
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.
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| http://dx.doi.org/10.1016/s0190-9622(94)70262-4 | DOI Listing |
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