Vascular anomalies

Question 1

What is Olliers disease?

Answer 1

OLLIERS DISEASE is characterised by MULTIPLE ENCHONDROMAS with SKELETAL ABNORMALITIES

• Rare ~1/100,000
• Sporadic
• Also involves multiple enchondromas but lower risk of malignant transformation than Maffucci syndrome
• NO associated vascular lesions
• BUT is associated with abnormal growth and skeletal abnormalities esp long bones, pelvis - may lead to limb length discrepancy or short stature.

Question 2

What is Maffucci syndrome?

Answer 2

MAFFUCCI SYNDROME is a rare congenital disorder characterised by MULTIPLE ENCHONDROMA with associated VENOUS MALFORMATIONS

• Typically sporadic
• Equal sex distribution
• Develops in childhood
• Multiple enchondroma (benign cartilaginous tumour)
  > typically on hands & feet
  > appear as lytic lesions within bony medulla, with expansion of overlying cortex
  > may present with pathological fractures
  > up to 40% risk of malignant transformation to chondrosarcoma
  (NB. Risk increases with increased numbers of enchondromas)
• Also develop venous malformations esp hands
• Also at risk of developing other malignant tumours
• Need monitoring