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Pachydermoperiostosis syndrome - Nail and Distal Digit
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Pachydermoperiostosis syndrome - Nail and Distal Digit

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Contributors: Bertrand Richert MD, Robert Baran MD
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Synopsis

Pachydermoperiostosis (PDP), also known as Touraine-Solente-Golé syndrome and primary hypertrophic osteoarthropathy, is a very rare genodermatosis marked by facial skin thickening, furrowing and oiliness (pachydermia), digital clubbing, and periostosis. Inheritance is either autosomal dominant (more common) with incomplete penetrance or autosomal recessive. The disease is markedly more common in males than females, with a peak age of onset occurring in adolescence. PDP has 3 clinical phenotypes: a complete form (periostosis and pachydermia), an incomplete form (without pachydermia), and a forme fruste (pachydermia with minimal skeletal changes). The complete phenotype is characterized by progressive pachydermia, periosteal bone formation in the long bones, digital clubbing, and painful joint swelling. Joint involvement may show hydrarthrosis or hemarthrosis. Associated skin findings include seborrhea, hyperhidrosis of the palm and soles, acne, blepharoptosis, eczema, and cutis verticis gyrata. Skin and bone manifestations tend to progress for 5–20 years before stabilizing.

Related topic: Secondary hypertrophic osteoarthropathy

Codes

ICD10CM:
M89.40 – Other hypertrophic osteoarthropathy, unspecified site

SNOMEDCT:
88220006 – Pachydermoperiostosis syndrome

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

  • Secondary hypertrophic osteoarthropathy (SHO), also called secondary pachydermoperiostosis or Pierre-Marie Bamberger syndrome, is the main differential diagnosis. SHO is most commonly secondary to pulmonary disorders (bronchogenic carcinoma, emphysema, bronchiectasis, lung metastases, Hodgkin's disease, pulmonary tuberculosis), though it is also associated with pleural, cardiac, abdominal, and miscellaneous disorders. SHO manifests with digital clubbing similar to that seen in PDP. The associated arthropathy of the large limb joints tends to be more severe and painful than in the primary form. There is also marked proliferative periostosis with cortical thickening at the distal ends of long bones and small bones of the hand and feet. Peripheral neurovascular disorders (local cyanosis, paresthesia) are not uncommon. As a paraneoplastic syndrome, symptoms may regress or disappear with successful therapy of the underlying tumor.
  • Acromegaly
  • Syphilitic periostitis
  • Lepromatous leprosy
  • Thyroid acropachy

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Therapy

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References

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Last Updated: 09/18/2017
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Pachydermoperiostosis syndrome - Nail and Distal Digit
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Pachydermoperiostosis syndrome : Nail clubbing, Thickened skin, Arthralgia, Chronic hyperhidrosis
Clinical image of Pachydermoperiostosis syndrome
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