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OSTEOPOIKILOSIS

Introduction

Osteopoikilosis, first described in 1915 by Albers-Schonberg, is a sclerosing bony dysplasia, which is benign and usually does not involve severe pain.1,2 It is important to identify osteopoikilosis, to avoid misdiagnosis of more serious conditions, such as osteoblastic metastasis.3 Osteopoikilosis always has evidence in the hands, which will show definitively with a radiograph of the metacarpal bones.3,4

Pathophysiology

  • Osteopoikilosis is hereditary and autosomal dominant, becoming more common with each generation.2,4

Related Anatomy

  • Phalanges, carpal bones, metacarpals
  • Foot phalanges
  • Radius, ulna
  • Pelvis, hip joints
  • Humerus
  • Tibia, fibula

Incidence and Related Conditions

  • Related conditions include melorheostosis, synovial osteochondromatosis, spinal stenosis and Buschke-Ollendorff syndrome, which is a dermatological condition.

Differential Diagnosis

  • Osteoblastic metastasis
  • Rheumatoid arthritis (RA)
  • Melorheostosis
  • Infection
  • Tuberous sclerosis
  • Paget’s disease
Pathoanatomy Photos and Related Diagrams
OSTEOPOIKILOSIS
  • Osteopoikilosis right hand AP X-ray with a Boxer's fracture (arrow)
    Osteopoikilosis right hand AP X-ray with a Boxer's fracture (arrow)
Symptoms
Ask the patient for a medical history of osteopoikilo, including a family history of osteopoikilosis.
Joint pain
Abdominal pain
Typical History
  • The patient can be of any age, usually over 3 years, and may or may not have joint pain. The patient may present with a fracture; however, the presence of osteopoikilosis does not increase incidence of fracture.5
Positive Tests, Exams or Signs
Work-up Options
Images (X-Ray, MRI, etc.)
OSTEOPOIKILOSIS X-RAY
  • Osteopoikilosis right hand oblique X-ray with a Boxer's fracture
    Osteopoikilosis right hand oblique X-ray with a Boxer's fracture (arrow)
  • Osteopoikilosis right hand lateral X-ray with a Boxer's fracture
    Osteopoikilosis right hand lateral X-ray with a Boxer's fracture (arrow)
  • Osteopoikilosis right hand AP X-ray with a Boxer's fracture (arrow)
    Osteopoikilosis right hand AP X-ray with a Boxer's fracture (arrow)
Treatment Options
Treatment Goals
  • Establish and verify diagnosis
Conservative
  • Treat with NSAIDS, acetaminophen and avoid opioid analgesics.3
Operative
  • Operative treatment is not likely to be necessary in patients with osteopoikilosis but acquired secondary problems like fractures should be treated in a normal fashion.
Complications
  • Be vigilant, in case of coexisting conditions, for example premyelopathic syndrome due to spinal canal stenosis, hip fracture and malignant degeneration.4
Outcomes
  • Osteopoikilosis does not significantly affect bone healing or time for fracture union.5
Key Educational Points
  • Surgery is more likely to be needed in patients with melorheostosis than with osteopoikilosis, especially if the patient presents with large bone growths, nerve entrapments, joint impingement syndromes or major limb irregularities.6
  • Check for joint effusion in the phalanges, carpal bones, and metacarpals.2
  • Check range of motion in both hands.1
  • To distinguish osteopoikilosis from osteoblastic metastasis, check blood count, serum electrolytes, tumor markers and alkaline and acid phosphatase.1
References
  1. Paraskevas G, Raikos A, Stavrakas M, et al. Osteopoikilosis: a case report of a symptomatic patient. Musculoskeletal Radiology 2009;3(12):38-43. PMID: 22470634
  2. Negi Col RS, Manchanda Col KL, Sanga Lt Col S, et al. Med J Armed Forces India 2013;69:196-8. PMID: 24600101
  3. Woyciechowsky TG, Monticielo MR, Keiserman B, et al. Osteopoikilosis: what does the rheumatologist must know about it? Clin Rheumatol 2012;31:745-8. PMID: 22246417
  4. Carpintero P, Abad JA, Serrano P, et al. Clinical features of ten cases of osteopoikilosis. Clin Rheumatol2004;23:505-8. PMID: 15801069
  5. Bansal R, Pathak AC, Sheth B, et al. Traumatic fracture in a patient of osteopoikilosis with review of literature. J Orthop Case Rep 2013;3(2):16-20. PMID: 27298900
  6. Wordsworth P, Chan M. Melorheostosis and osteopoikilosis: a review of clinical features and pathogenesis. Calcified Tissue Int 2019;104:530-43. PMID: 30989250
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