CASE 26

By: Dr. Khalid Abdullah AL-Ismail MD and Dr. Nizar
Al-Nakshabandi MD, FRCPC

       

HISTORY: 25-year-old male with marked thickening of the skin of the extremities and the scalp.

What are your findings?

What is the differential diagnosis?

What are the causes?

FINDINGS:

AP views of the radius/ulna, and tibia tibia/fibula demonstrate shaggy periosteal bone formation in the long bones but also involving the metacarpals and metatarsals.  Note that the epiphysis is also involved in this form.  In addition, there is widening of the long bones.  The MRI of the brain [T1-weighted images] demonstrate shaggy thickening of the bone with marked thickening of the skin.

DIAGNOSIS:

Pachydermioperiostitis.

PEARLS AND DISCUSSION:

Pachydermioperiostitis is an autosomal dominant inherited disorder. It is self-limiting however, progresses for several years.

It is an osteoarthritic dermatopathic syndrome.

It is also known as primary hypertrophic osteoarthropathy because it is unrelated to lung disease.

Pachydermioperiostitis has been mapped to band 4 Q 33 and 4 Q 34.

Disease is common in patients of African descent, more then white. It is also common in Middle East patients as well.

Males get it 7 times more, then females.

Disease begins in childhood or early adolescence and progresses over the next 5-20 years before it stabilizes.

The disease typically seizes after 10 years but patients may be left with chronic debilitating complications which include kyphosis, restricted motion, and neurological manifestations.

Life expectancy can be normal.

Easiest way to diagnose PDP is when pachydermia, finger clubbing and periostitis of the long bones are present.  Radiology plays a key role in such a diagnosis.

Skin biopsy is another way to diagnose PDP. Hormonal studies must be done to exclude diseases such as myxedema and hypothyroidism.

No effective treatment for PDP is currently known.

Nonsteroidal anti-inflammatory drugs and corticosteroids can be used to decrease the inflammation. Retinoids are also used for skin manifestations. Surgical methods to improve facial appearances can be done.

FURTHER READING:

1. Rana RS, Wu JS, Eisenberg RL. Periosteal reaction. AJR Am J Roentgenol. 2009;193 (4): W259-72. 

2. Rastogi R, Suma GN, Prakash R et-al. Pachydermoperiostosis or primary hypertrophic osteoarthropathy: A rare clinicoradiologic case. Indian J Radiol Imaging. 19 (2): 123-6

3. Chew FS. Skeletal Radiology. Lippincott Williams & Wilkins. (2010) ISBN:1608317064