Best Clinical Practice Guidelines In Cancer Management In Eb

Jemima Mellerio, MD

Especially RDEB-patients carry a great risk getting Squamous Cell Carcinoma (SCC). 80% of people with RDEB have, as they reached the age of 45, experience with this for them very aggressive skin cancer-variation. The malicious cells are mostly found in the skin of the hands, elbows, feet and legs. And with EB-patients, having a lot of blisters and ulcers, it is hard to distinguish skin-cancer from these "normal" wounds.

The rarity of this genetic disease, in combination with the way SCC goes off in RDEB-patients strengthens the need to develop a practical guideline for cancer-management. The guide is being constructed with the same method Dr. Francis Pallisin showed in his introduction in the
morning session:

"The development of the guide is based on a systematic and careful review of all the literature published in the field. This is reviewed by an international committee of experts and a consensus of recomendations is generated, all approved by an international group of EB patients/parents. Finally, these are re-checked by the group of experts and published for world wide use."


Dr Mellerio informed the audience of her recommendations : how to obtain to make a quick diagnose of SCC:

  • Check every three months the skin of the RDEB patient, done by nurses and dermatologists with enough experience in this area .
  • Akl the mediacal team, and also the patients, parents or partners at home, to take photo' s of wounds, ulcers and blisters , just tot see how the skin is behaving
  • If the images give reason to be worried; take 4 mm biopsies
  • Instruct the patient in a clear, discreet and  and tactful way; help them in this way tot check their skin as careful as possible.
  • If surgery is the only option left; choose dermatologists, surgeons, oncologists and pathologists to compose  a team. After hat surgery histo-pathologists have to search for metastasis.
  • The removed texture has to be searched by a pathologist with RDEB experience.
  • Frequent checks of the lymphatic glands can be part of the treatment; but it is known that biopsies of these glands does not give any decisive answer on the subject of SCC.

There are still no succesful alternatives tot help in the struggle agianst SCC in RDEB-patients: A few known experiments:

  • Radio-therapy: unsure, not enough experience.
  • Chemotherapy: the results do vary a lot.
  • Tyrosine Kynase:  is only used in the case of metastasis
  • Aldare-cream: there is only one case-history of a patient using this cream.  (  Aldare-cream is used when skincells show deformities )
  • Using Cetuximab: Only one case is known. ( Cetuximab is a targeted therapy ; aims at slowing down cancer-cells.)

As long as there is no real cure or suitable therapies for healing SCC, removing the SCC-skin-fragments stays the best option.

More inquiries

Show less...

PDF Downloads: