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Primary Pachydermoperiostosis: A Case Report

Published on Feb 1, 2000in Journal of Dermatology3.377
· DOI :10.1111/j.1346-8138.2000.tb02130.x
Devinder Mohan Thappa24
Estimated H-index: 24
(JIPMER: Jawaharlal Institute of Postgraduate Medical Education and Research),
G Sethuraman5
Estimated H-index: 5
(JIPMER: Jawaharlal Institute of Postgraduate Medical Education and Research)
+ 1 AuthorsS. Elangovan1
Estimated H-index: 1
(JIPMER: Jawaharlal Institute of Postgraduate Medical Education and Research)
Abstract
Pachydermoperiostosis (PDP), a rare genodermatosis, occurred in a 38-year-old Indian male. He presented with progressive thickening of the skin on the face and scalp of 15 years duration. Widening of his wrists and ankles and broadening of the fingers and toes had also developed since then. He was born of a consanguineous marriage and had no family history of a similar disorder. He had the typical findings of complete form of PDP including cutis verticis gyrata, coarse facial features, clubbing of the digits in the skin, and periostosis and cortical thickening at the distal ends of long bones of the extremities and small bones of the hands and feet. PDP has two different forms—primary and secondary. These two entities are differentiated by family history and presence or absence of a primary lesion, usually in the lungs. Clinically, in secondary PDP, the cutaneous findings (pachydermia, seborrhoea, oiliness) are less severe than primary PDP; osteoarthropathy is more severe and painful in secondary PDP, especially with congenital heart disease. The present case was suffering from primary PDP that had expressed itself in its complete form.
  • References (11)
  • Citations (12)
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References11
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A 46-year-old man visited our department with masses on the face and a skin problem. Approximately 15 years ago, he had noticed marked thickening of the skin on the face and scalp, which had exaggerated progressively to produce deep wrinklings with seborrhea ( Fig. 1). He had profuse perspiration of the face, hands, feet, and the upper aspects of the trunk. Figure 1. Clinical features of pachydermoperiostosis, consisting of thickened skin folds and deep wrinkles on the forehead and scalp. A larg...
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Pachydermoperiostosis or primary hypertrophic osteoarthropathy (HOA) is a rare congenital growth disorder of connective tissue. We report a case of severe myelofibrosis in a patient with HOA. When cultured in vitro, patient bone marrow-derived fibroblasts displayed a high proliferative potential with a shortened doubling time (24 hours v 36 to 48 hours for normal fibroblasts). The role of platelet-derived growth factor (PDGF), previously implicated in the pathogenesis of secondary acquired myelo...
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#1Luca BianchiH-Index: 19
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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 electronmic...
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Hypertrophic Osteoarthropathy secondary to various causes is not a common entity but primary hypertrophic osteoarthropathy (also called Touraine-Solente-Gole Syndrome) is an extremely rare genetic disorder. It was first described in 1868 by Friedrich and has premier features of clubbing, periostosis and pachydermia. Based on clinical manifestations Touraine Solente and Gole distinguished it into three forms as complete, incomplete and fruste form. Most of the cases described up till now had onse...
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Pachydermoperiostosis is a rare genetic disease affecting both skin and bones. Excluding some secondary causes such as pulmonary or cardiac disease, young men with digital clubbing, pachydermia and periostosis should be considered to be suffering from pachydermoperiostosis. Key words: Pachydermoperiostosis; Diagnosis
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