Pachydermoperiostosis

Pachydermoperiostosis
Classification and external resources
Specialty	rheumatology
ICD-10	L62.0, M89.4
ICD-9-CM	731.2, 757.39
OMIM	167100 259100
DiseasesDB	29069
eMedicine	derm/815
MeSH	D010004
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Pachydermoperiostosis (PDP) or primary hypertrophic osteoarthropathy (PHO) is a rare genetic disorder that affects both bones and skin. Other names are idiopathic hypertrophic osteoarthropathy or Touraine-Solente-Golé syndrome. It is mainly characterized by pachydermia (thickening of the skin), periostosis (excessive bone formation) and finger clubbing (swelling of tissue with loss of normal angle between nail and nail bed).

This disease affects relatively more men than women. After onset, the disease stabilizes after about 5–20 years. Life of PDP patients can be severely impaired. Currently, symptomatic treatments are NSAIDs and steroids or surgical procedures.

In 1868, PDP was first described by Friedreich as ‘excessive growth of bone of the entire skeleton’. Touraine, Solente and Golé described PDP as the primary form of bone disease hypertrophic osteoarthropathy in 1935 and distinguished its three known forms.

PDP is one of the two types of hypertrophic osteoarthropathy. It represents approximately 5% of the total hypertrophic osteoarthropathy cases. The other form is secondary hypertrophic osteoarthropathy (SHO). SHO usually has an underlying disease (e.g. cardiopulmonary diseases, malignancies or paraneoplastic syndrome). Unlike SHO, PDP does not have an underlying disease or malignancy.

PDP can be divided into three categories:

The cause of these differentiating pathologies is still unknown.

PDP is a rare genetic disease. At least 204 cases of PDP have been reported. The precise incidence and prevalence of PDP are still unknown. A prevalence of 0.16% was suggested by Jajic et Jajic.

PDP occurs more frequently in men than in women (ratio around 7:1). Moreover, men suffer from more severe symptoms (see table 1). African American people are affected to a higher extent.

Table 1. Distribution of different forms of PDP among 201 reported affected men and women (167 men and 34 women).

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