Case Author(s): Gregg D.Schubach, M.D. and Keith C. Fischer, M.D. , . Rating: #D3, #Q5

Diagnosis: Pachydermoperiostosis

Brief history:

45-year old man with diffuse aches, pains, and arthralgias.

Images:

Anterior and posterior delayed whole body images and spot views of the hands.

View main image(bs) in a separate image viewer

View second image(xr). Anterior view of femur

View third image(xr). AP view of hand

View fourth image(xr). Anterior view of tibia

Full history/Diagnosis is available below

Diagnosis: Pachydermoperiostosis

Full history:

45-year old man with a diagnosis of pachydermoperiostosis diagnosed at age 24. The patient currently presents with diffuse achiness and arthralgias. On physical examination, the patient has marked clubbing of the fingers, skin thickening (hyperkeratosis) of the palms of the hands and soles of the feet, as well as grossly enlarged joints at the wrists, knees, and ankles. Laboratory data is normal except for an elevated erythrocyte sedimentation rate. The patient has had multiple tendon release operations as treatment for joint pain. The patient is currently being treated with analgesics as needed.

Radiopharmaceutical:

Tc-99m MDP

Findings:

The delayed whole body bone scan demonstrates enlargement of the distal diaphyses and metaphyses of the femora. There is mildly increased radiopharmaceutical uptake along the periosteum of the distal femora, tibiae, and forearms bilaterally. There is also increased activity in the hands and feet as well as several other foci. These scintigraphic abnormalities correspond to the periosteal reaction noted on the plain radiographs. The plain radiographs demonstrate diffuse periosteal reaction about the distal femora, tibiae, radii, and spade-like tufts of the fingers.

Discussion:

Hypertrophic osteoarthropathy may be divided into primary (also called hereditary or idiopathic) and secondary. The primary form, which accounts for approximately 5% of all cases of hypertrophic osteoarthropathy, is also called pachydermoperiostosis. Secondary hypertrophic osteoarthropathy, also called pulmonary hypertrophic osteoarthropathy, is secondary to a variety of underlying cardiopulmonary diseases, such as bronchogenic carcinoma, mesothelioma, pulmonary abscess, emphysema, bronchiectasis, Hodgkin¹s disease, cyanotic congenital heart disease, cystic fibrosis, etc. Pachydermoperiostosis, which is inherited as an autosomal dominant, affects men much more frequently than women. This disease, which has a predilection for blacks, is characterized clinically by an insidious onset during adolescence of enlargement of the hands and feet and clubbing of the fingers and toes. Patients also suffer large skin folds on the face and scalp, excessive perspiration, enlargement of the extremities, and nonspecific pain in the bones and joints. Pachydermoperiostosis usually ceases after ten years of progression. Prior to the spontaneous arrest of progression, patients may suffer chronic disabling complications including restricted motion, severe kyphosis, and neurologic manifestations. Life expectancy, however, is normal. Radiographic abnormalities include enlargement of the paranasal sinuses, irregular periosteal proliferation of the phalanges and distal long bones beginning at the epiphyseal regions, cortical thickening without narrowing of the medullary cavity, clubbing, and occasional acro-osteolysis. Hypertrophic osteoarthropathy has a distinctive scintigraphic appearance. There is increased radiopharmaceutical uptake along the cortical margins of the diaphyses of long bones. The juxta-articular regions of the long bones may be involved, especially in the phalanges. The bone scan, which is asymmetric or irregular in about 15% of cases, shows frequently involvement of the scapulae, mandible, maxilla, clavicles, and patellae. The scintigraphic findings often precede the radiographic abnormalities. Specifically, radiopharmaceutical uptake may be increased secondary to hyperemia prior to periosteal new bone formation. Also, nuclear imaging of the hands and feet may show increased activity in the terminal phalanges prior to the development of clinically evident clubbing.

References:

1. Resnik. Bone and Joint Imaging, 1989

2. Wagner, et al. Principles of Nuclear Medicine, 2nd edition, 1995

Followup:

The family history reveals the patient¹s father, brother, and sister suffer from this condition. The patient has two brothers who are not affected. The patient has four young children without clinical evidence of pachydermoperiostosis at this time.

Major teaching point(s):

Hypertrophic osteoarthropathy should not be, and rarely is, confused with metastatic disease.

Differential Diagnosis List

The differential diagnosis for periosteal reaction includes trauma, infection (osteomyelitis), inflammatory disease (e.g., arthritis), neoplasm, congenital disorders (physiologic in the newborn), metabolic

ACR Codes and Keywords:

References and General Discussion of Bone Scintigraphy (Anatomic field:Skeletal System, Category:Organ specific)

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Case number: bs046

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