Saturday, November 14, 2015

Recessive Dystrophic Epiermolysis Bullosa


We were sent the following case from Romania for suggestions.
Speranta is a 36 year-old woman from Romania who was diagnosed with Recessive Dystrophic Epidermolysis Bullosa (RDEB) at age of 6.  Initially vesicles appeared on the hands and body and then erosion and ulceration with mutilation of hands and feet. The lesions presented on the oral mucosa too. She also has difficulty with swallowing as oral feeding seems to exacerbate the lesions within the mouth. Currently the patient is cachectic. She was born in Romania and came to Germany to visit for 3 weeks. She presented in 2008 at the urgent clinic. She was referred to Freiburg University Clinic (specialized in EB) but due to the cost she was not able to stay and be treated. She does not have health insurance and she is treated only on emergency basis. For several days she has severe pain from her mutilated hands. She was treated with Flamexin powder (piroxicam) and with antiseptics. She c/o fever and chills. Over the course of the evaluation there was evidence of lesions of up to 10cm diameter, deep and greasy ulcerations, erythema and crusts on the torso, gluteal , V neck area, arms , legs and feet. There are mutilations on her feet but more severe on the hands, the fingers are unrecognizable. She has microstomia, her oral mucosa has multiple small erosions. Opening of mouth is almost impossible. Has multiple crusts over scalp.
 Bacteriology: from torso: stafilococus, multiple.  From feet and hands ulcerations: massive staf aureus.
This was a temporary inpatient visit for a patient who presented with severe pain and cachexia secondary to BE involving mucosa. She was treated with topical antiseptics and antibiotics, "antiseptic showers" and degreasing the integuments. Oral mucosa was washed with pantenol and external antiinflamtory. Due to urgent/temporary treatment and lack of insurance, genetic testing and a skin biopsy were not done. She received Clindamycin 300mg bid and due to severe pain the anesthesiologists were consulted.
Recommendations were for: a topical treatment with antibiotics: Fucidine unguent, Lomatuell, Mepithel. Oral swishes with pantenol. The pain medication to be adjusted as needed, high caloric intake d/t cachexia and control the abnormal lab values.

Social History: After she was diagnosed at age 6 Speranta was hospitalized multiple times for prolonged periods of time in hopes of finding a cure for her disease. One day when she was 16 yo she tried commit suicide by drinking a bottle of pills but her parents found her in time. Currently, she is married, bur her husband is gone most of the time from home because of his job. She is the primary care giver for her 2 little nephews (orphans from both parents) and for her sick mother and paralyzed father. What keeps her from committing suicide is that she needs to take care of her parents and these children.  Presently, she wants to be able to continue to afford her palliative medications and dressings that help her reduce the debilitating pain she has on a daily basis.  

Comment:  A few years back, we say a documentary, The Boy Whose Skin Fell Off. It was dramatic and memorable.  The woman presented here, at age 36, is lucky that she has not had invasive squamous cell carcinoma yet.  Her life must have been one long story of pain.  While we know a bit about her physical disease, we know nothing about her family or how she has managed to cope.  We suspect that her story may shed some light on her quality of life. 
 
A few of our VGRD members have a special interest in this disorder and their comments will be welcome.

Film:  Here is a link to a You-Tube of The Boy Whose Skin Fell Off. (2004, 49 minutes)

4 comments:

  1. from Khalifa Sharquie (Baghdad) : For the last 20year,I am treating patients with ELB by giving oral zinc sulfate around 5-10mg/Kg body weight a day in divided doses as this drug prevent fibrosis plus other functions like antioxidant,immunomodulator and antimicrobial .Zinc sulfate has been used in treatment of Behcets ds,oral aphthous,leishmaniasis,morphea,systemic sclerosis,keloid ,burn keloids and leg ulcers.

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    1. Liliana PanteaDecember 01, 2015

      Dr. Sharquie, could you tell me if there is a special form of zinc that works better then another . For how long period of time you treat and break for how long?..
      thank you,
      Liliana

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  2. Dressings that she applied appear to be adhesive dressing which she should avoid due to fragility of the skin. Non-adherent dressings would be much more gentle and less hurting. Usually it is recommended to apply emollient such as Vaseline Jelly or Aquaphor first, followed by non-adherent contact layer such as Mepilex dressing, followed by Rolled confirm as a 2nd layer and cover with a netting which will protect her skin better. There is a helpful resource for patients with dystrophic EB. Here is the website: http://www.debra.org/careproducts

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  3. From Rodrigo Santamarina: The only thing I can think that might be esoteric but in this cases any improvement might count Platelet enriched Plasma or even more possibly efficacious Bone marrow enriched plasma with same patient stem cells and inject into lesions, who knows, it might work.

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