Abstract
Primary hypertrophic osteoarthropathy (PHO), also known as pachydermoperiostosis, is a rare genetic disease with excessive proliferation of skin and bone at the distal parts of extremities. Features include clubbing of the digits, periostitis of the long bones, hydrarthrosis, facial skin thickening and coarse facial features. It mostly affects males and has a bimodal peak of onset: in the first year of life and around puberty. Secondary hypertrophic osteoarthropathy is associated with an underlying pulmonary, cardiac, hepatic, or intestinal disease, and is rarely found in children.
Highlights
Primary hypertrophic osteoarthropathy (PHO), known as pachydermoperiostosis, is a rare genetic disease with excessive proliferation of skin and bone at the distal parts of extremities.Features include clubbing of the digits, periostitis of the long bones, hydrarthrosis, facial skin thickening and coarse facial features
Secondary hypertrophic osteoarthropathy is associated with an underlying pulmonary, cardiac, hepatic, or intestinal disease, and is rarely found in children
A previously healthy 16 year-old adolescent was referred to the Pediatric Rheumatology Clinic with a one year history of painful and swollen knees, feet and arms
Summary
Primary hypertrophic osteoarthropathy (PHO), known as pachydermoperiostosis, is a rare genetic disease with excessive proliferation of skin and bone at the distal parts of extremities. Features include clubbing of the digits, periostitis of the long bones, hydrarthrosis, facial skin thickening and coarse facial features. It mostly affects males and has a bimodal peak of onset: in the first year of life and around puberty. Secondary hypertrophic osteoarthropathy is associated with an underlying pulmonary, cardiac, hepatic, or intestinal disease, and is rarely found in children
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