Maffucci's syndrome with extensive gastrointestinal involvement

Australas J Dermatol. 2005 Feb;46(1):33-7. doi: 10.1111/j.1440-0960.2005.00133.x.


A 10-year-old girl with cutaneous, oral and gastrointestinal vascular lesions was referred for consideration of laser treatment of her skin lesions. She was noted to have multiple venous malformations predominantly affecting the hands and feet, some of which had been present from birth. Her right hand was deformed by multiple venous malformations, and X-rays of this hand revealed enchondromata within metacarpal and phalangeal bones. She was known to have extensive involvement of her gastrointestinal tract by venous malformations, resulting in refractory iron-deficiency anaemia. In view of the multiple cutaneous and gastrointestinal vascular lesions, a diagnosis of blue rubber bleb naevus syndrome had been made many years earlier. However, after recognition of the characteristic enchondromata, this diagnosis has been revised to Maffucci's syndrome. In addition to her ongoing dermatological and paediatric follow up, she has now been referred to the orthopaedic surgeons for surveillance of her skeletal lesions.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Anemia, Iron-Deficiency / etiology
  • Child
  • Diagnosis, Differential
  • Enchondromatosis / complications
  • Enchondromatosis / congenital
  • Enchondromatosis / diagnosis*
  • Enchondromatosis / pathology
  • Female
  • Foot / pathology
  • Gastrointestinal Hemorrhage / complications
  • Gastrointestinal Hemorrhage / congenital
  • Gastrointestinal Hemorrhage / diagnosis*
  • Gastrointestinal Hemorrhage / pathology
  • Hand / pathology
  • Hand Deformities, Congenital / complications
  • Hand Deformities, Congenital / diagnosis*
  • Hand Deformities, Congenital / pathology
  • Humans