Maffucci's syndrome with extensive gastrointestinal involvement

Victoria Shepherd, Amanda Godbolt, Terence Casey
Australasian Journal of Dermatology 2005, 46 (1): 33-7
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.

Full Text Links

Find Full Text Links for this Article


You are not logged in. Sign Up or Log In to join the discussion.

Related Papers

Remove bar
Read by QxMD icon Read

Save your favorite articles in one place with a free QxMD account.


Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"

We want to hear from doctors like you!

Take a second to answer a survey question.