Multiple Enchondromatosis

 

Olliers HandOlliers forearmOlliers Femur

 

Conditions

 

1. Ollier's

-  enchondromas often unilateral

- skeletal dysplasia

 

2. Maffucci's syndrome

- enchondromas often bilateral

- skeletal dysplasia

- in association with hemangiomas / vascular anomalies

- cutaneous hemangiomas often first presentation

- vascular anomalies in viscera

- vascular pleboliths

 

Epidemiology

 

1/100,000

 

Not inherited

- post zygotic somatic mutation with mosaicism

 

Location

 

Femur / tibia / humerus

Hands > feet

Axial skeleton - more commonly affected in Maffucci's

 

Issues

 

Malignancy

 

Growth disturbance

- leg length discrepancy

- bowing

 

LLD Olliers

 

Malignancy

 

Malignant transformation to chondrosarcoma

- consider screening with whole-body MRI

 

Incidence of other cancers - brain, gonad, hematological, vascular

 

Verdegaal et al Oncologist 2011

- multi-centered study of 144 Ollier's and 17 Maffucci patients

- incidence of chondrosarcoma 40% Ollier's

- incidence of chondrosarcoma 53% Maffucci's

- 89 patients with chondrosarcoma

- femur (20%), feet (15.8%), pelvis (12.4%), humerus (11%), tibia (11%), hand (10%)

 

Abiad et al Am J Med Genet A 2020

- literature review

- prevalence malignancy Ollier's 53%, Maffucci's 49%

- median age Ollier's 25, Maffucci's 30

- incidence chondrosarcoma Ollier's 31%, Maffucci's 32%

- chondrosarcomas upper limb, lower limb, axial skeleton, visceral

- 20% incidence of brain cancer

 

Hand & Feet

 

Often present in first decade of life with palpable masses on hands and feet

- cosmetic issues / stiffness / pathological fractures

 

Olliers handOlliers Hand

 

Klein et al J Hand Surg Am 2018

- 10 pediatric patients with metacarpal or phalangeal enchondromas

- curettage and corticoplasty (trimming of excess bone) for hand enchondromas

- improved range of motion and cosmesis

 

Leg length discrepancy

 

Popkov et al Orthop Traumatol Surg Res 2010

- limb lengthening in Olliers

- external fixator versus external fixator + IM nail

- use of nail reduced external fixator time, complications, and fractures

 

Hosny et al J Pediatr Orthop B 2023

- 13 patients with LLD and angular deformity

- intralesional osteotomy and distraction osteotomy

- in conjunction with guided growth

- good correction and bone regeneration

 

Olliers femurOlliers LLDOlliers ankle valgus

 

Elbow and wrist bowing

 

Olliers elbowOlliers forearm bowing