Endgames Case Review

A child with a painless, deformed wrist

BMJ 2018; 360 doi: https://doi.org/10.1136/bmj.k246 (Published 14 February 2018) Cite this as: BMJ 2018;360:k246
  1. Christopher Mark Peake, CT2 trauma and orthopaedics,
  2. Katie Hughes, FY1 trauma and orthopaedics,
  3. Andrea Yeo, consultant trauma and orthopaedics, paediatric orthopaedics
  1. Trauma and orthopaedics department, St George’s University Hospitals NHS Foundation Trust, London, UK
  1. Correspondence to cmpeake{at}doctors.org.uk

A 7 year old boy presented to the emergency department after his mother noticed a painless deformity of his right wrist. The deformity had appeared the day after the child had tripped and fallen on to the wrist while playing at home. He had no known medical problems and was developing well. Specifically, he had experienced no previous injury or pain in his right wrist, although he was brought to the emergency department a few months previously for a minor injury to his right thumb. His father had noted a minor enlargement of the thumb, but the boy had not undergone radiography.

On examination, his right wrist was in radial deviation with prominence of the ulna. There were no areas of focal tenderness. The proximal phalanges of his thumb and index finger were wider in girth than the other fingers, with obvious bony protuberances. He could grasp an object using his fingers and thumb with good strength and no pain. He had a full range of movement of all joints of the hand and at the wrist. There were no skin changes or neurovascular abnormalities.

He was initially seen by the emergency team who took radiographs (fig 1) and referred him to the orthopaedic team for review.

Fig 1
Fig 1

Anterior-posterior and lateral radiographs of the patient’s right wrist and anterior-posterior radiograph of the right hand. An anterior-posterior radiograph of the left hand was taken for comparison (far right)


  • 1. What is the diagnosis?

  • 2. What are the complications of this disease?

  • 3. How should this patient be managed?


1. What is the diagnosis?

Short answer

The patient presented with a painless wrist deformity and bony lesions in the fingers. The radiographs show multiple, well defined, expansile lytic lesions involving the phalanges, and distal radius (fig 2). These features are suggestive of Ollier disease (enchondromatosis).

Fig 2
Fig 2

Anterior-posterior and lateral radiograph of the patient’s right wrist and anterior-posterior radiograph of the right hand showing radiological findings. (A) Radioluscent longitudinal streaks that involve the metaphysis and extend down into the diaphysis of the radius. (B) Multiple well defined lytic lesions within the medullary canal with thin overlying cortex. (C) The proximal and middle phalanges of the index finger appear shortened and grossly expanded. (D) Proximal and middle phalanges of the index finger appear shortened and grossly expanded


Multiple enchondromatosis is characterised by irregular distribution of multiple benign cartilaginous lesions within the bones. The phalanges, femur, and tibia are most commonly affected, with a tendency towards unilateral involvement. It is a rare, non-hereditary, congenital condition with estimated prevalence of one in 100 000.1

An enchondroma is a benign, generally asymptomatic tumour of hyaline cartilage originating from the physis, commonly occurring in the phalanges of the hand.2 The pathogenesis is not fully understood but theories include abnormal proliferation and differentiation of chondrocytes.2 Enchondromas can be solitary (they represent the second most common benign cartilage lesion after osteochondromas, and are usually diagnosed incidentally), multiple (Ollier), or multiple and associated with haemangiomas (Maffucci syndrome).

The presentation of Ollier disease, as this child showed, is typically of deformity in a limb or multiple painless bony lesions in the hands within the first decade of life.1 Radiographs typically show multiple well defined lytic lesions within the medullary canal with a thin overlying cortex. Calcification can also be seen within the lesion and the bone might be enlarged, shortened, and deformed. In this child, such lesions are seen in the proximal phalanges of the thumb, index, and ring fingers, and in the middle phalanx of the index finger. The affected phalanges of the index finger also appear shortened and grossly expanded. In the long bones, enchondromatosis is recognised as radiolucent longitudinal streaks that involve the metaphysis and extend down into the diaphysis, as shown in the radius of this child. Radiographic features are often diagnostic.

2. What are the complications of this disease?

Short answer

Complications of Ollier disease include growth disturbance resulting in limb length discrepancies or angular deformities and pathological fractures. Lesions can undergo malignant transformation to chondrosarcoma. Although lesions can grow and cause pain throughout childhood, they do not undergo malignant transformation until adulthood.


Ollier disease usually affects the appendicular skeleton such as the hands, but can also affect the trunk in severe cases.2 Complications are usually marked in long bones.

Expansion of the bony lesions can result in disruption to the physis, causing growth arrest.3 Deformity and enlargement of the fingers might impair normal function. The asymmetrical distribution of the lesions with the tendency to involve only one bone or one side of the body can lead to severe limb length discrepancies and angular deformities, typically genu varum. This child has an extensive lesion in the distal radius, resulting in growth arrest and disproportionate growth between the radius and ulna. Although asymptomatic now, in time the deformity is likely to worsen with probable ulnar impaction and functional difficulties.

Expansion of a lesion within the medullary space can result in thinning of the cortex and might lead to pathological fractures with pain and loss of function.1 Expanding lesions can also compress local peripheral nerves presenting as nerve palsies, but this complication is rare.4

Cartilaginous and non-cartilaginous malignancy can occur in multiple enchondromatosis in adulthood, but this is more commonly seen in Maffucci’s syndrome and does not occur in children. The incidence of this ranges from 5% to 50%.15 The most common malignancy seen in Ollier disease is chondrosarcoma, occurring in approximately 20%-45.8%, with an average age of diagnosis of around 40.6 Signs suggestive of malignant transformation include pain, increasing size of lesion, and cortical thinning.7 Lesions in the central skeleton (skull, pelvis, scapula, and ribs) are more likely to transform than those in the appendicular skeleton. Other malignant tumours associated with Ollier disease are osteosarcoma, leukaemia, and tumours of the central nervous system, lung, ovaries, and breast.2

3. How should this patient be managed?

Short answer

The patient has no functional impairment and can therefore be managed conservatively. He should be referred to a specialist multidisciplinary team for regular surveillance to monitor the rate of worsening deformity and functional deficit.


Initial history and examination should focus on eliciting the onset of symptoms and identifying functional deficits or other sites of bony involvement.

Plain radiographs typically suffice as first line investigation. Computed tomography, magnetic resonance imaging (MRI), and bone scintigraphy can be considered. In cases where polyostotic involvement is suspected, a skeletal survey can be useful. Standing leg length views (including the pelvis) can help to identify any lesions that might affect limb length or cause deformity. The implications of radiation exposure must be considered before performing radiological investigation. Due to the rarity of the condition, a specialist multidisciplinary team should be involved in surveillance and management. The team might comprise orthopaedic surgeons, paediatricians, physiotherapists, occupational therapists, childhood psychologists, and specialist nurses.

In patients without functional impairment, treatment is usually conservative with regular surveillance.2 The frequency of surveillance is dependent on the size and location of lesions and associated symptoms. Surgical management is reserved for patients with severe deformity, functional impairment from limb-length discrepancies, or malignant transformation. Operative interventions are typically required in childhood to restore mechanical alignment, and, at maturity, to maintain limb length and a normal gait.

There are many surgical options to manage the complications of Ollier disease. For lower limb lesions, typical management options include corrective osteotomies or hemiepiphysiodesis procedures for angular deformities, and limb equalisation surgeries such as limb lengthening and epiphysiodesis. Upper limb lesions can be managed with corticoplasty or diaphysectomy.8 Amputation, although extremely rare, might be considered for malignancy in adulthood.

In this case, the patient was initially investigated with MRI of the hand and wrist. Taking radiation exposure into account, he underwent radiographs of his hands and feet only. This revealed a small enchondroma in the proximal phalanx of the right second toe.

Poor prognostic factors in Ollier disease include an earlier age of onset of symptoms, grossly asymmetrical distribution of lesions, repeated corrective surgeries, and malignant transformation.2

Patient outcome

The local multidisciplinary team decided to manage the boy’s case conservatively with annual surveillance of his hands and feet, and any other areas that became symptomatic. Future surgical management of the growth discrepancy in his wrist will be considered when he becomes symptomatic.


  • We have read and understood BMJ policy on declaration of interests and declare no competing interests.

  • Patient consent obtained.


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