Features of the diagnosis of pachydermoperiostosis on the example of a clinical case

Pachydermoperiostosis (or primary hypertrophic osteoarthropathy) is a rare genetic disease that usually begins in childhood or adolescence. [1] Characterized by clinical signs: facial pachyderma (hypertrophy and hyperplasia of all skin layers), changes in the distal phalanges of the fingers of the "drum sticks" type, periostosis (non-inflammatory change of the periosteum) [1, 2] Diagnosis of pachydermoperiostosis is carried out on the basis of patient examination data, radiological and biochemical studies, study of hereditary history and molecular genetic analysis. There is no specific treatment for the disease, but symptomatic measures can restrain its development for a long time.