"They also serve who only stand and wait."

presented by David J. Elpern, M.D.,

Williamstown, MA, USA

on September 29, 2001

Introduction:  Steven is a nine-year old boy with a disabling blistering disorder.  The product of a full-term normal gestation and delivery, he was noted at birth to have absent skin on both legs.  Also, shortly after birth, he was was observed to have erosions on the ears and over the next few days developed wide-spread erosions.  An initial diagnosis of Bart's Syndrome was made, but was later changed to Recessive Dystrophic Epidermolysis Bullosa (RDEB) based on pathology.  Steven lives with his mother and step-father, two normal siblings and a boa-constrictor.  He continues to develop bullae after the slightest trauma. He recently has been developing esophageal erosions which make swallowing difficult.  Weight gain and growth are a problem.  His weight is 35 lbs (16 kg).

Physical Exam: There are generalized erosions at all areas of trauma. Steven is always covered in layers of Xeroform gauze and Kerlex except for his head, neck, and hands. He has pseudosyndactyly of his hands and feet. Teeth are relatively normal. But gums are friable and he can't brush well because trauma initiates blisters.

Laboratory: None available, although we would like CBC, ferritin - Steven's mother is reluctant to have this done.

Pathology: Slides submitted to Dermatopathologist N. Scott McNutt, M.D. of Cornell Medical College for electron microscopy shortly after birth revealed a split below the basal lamina and an absence of anchoring fibrils, which are consistent with the diagnosis of recessive dystrophic epidermolysis bullosa (RDEB).

Treatment for the patient to consist of Bactroban, Xeroform gauze, and dry gauze wrap applied to open areas. He needs occasional antibiotics for pyogenic infections. Nurtition is supplemented with Pediasure, but he has trouble because of oral and esophageal erosions.

Discussion: Steven is a 9 year-old boy with RDEB. Epidermolysis Bullosa (EB) is a heterogeneous group of heritable disorders characterized by increased skin fragility. There are seventeen subtypes of Epidermolysis Bullosa now described based on clinical and histologic criteria. For a brief review of EB go to http://www.debra.org/about_eb.htm or http://www.emedicine.com/DERM/topic124.htm

The major questions we have are:

1) What to do about the psuedosyndactyly, and which surgeons have the necessary expertise?
2) Nutrition - value of a jpeg (feeding tube)
3) Role of human growth hormone
4) Artificial skin- http://archderm.ama-assn.org/issues/v136n10/ffull/ded00000.html

Has anyone had a long term therapeutic relationship with one of these patients? I have been trying to get Steven's parents to take him the the National EB Center at Chapel Hill - but they lack means and are reluctant to go. His mother is very protective and does not like to think of her son as a teaching case.

References:
Arch Dermatol 1999 Oct;135(10):1219-22 The use of tissue-engineered skin (Apligraf) to treat a newborn with epidermolysis bullosa. Falabella AF, Schachner LA, Valencia IC, Eaglstein WH. Department of Dermatology, University of Miami School of Medicine, Fla, USA.

BACKGROUND: Inherited epidermolysis bullosa (EB) is a mechanobullous disorder. The Dowling-Meara variant, a subtype of EB, is characterized by widespread blister formation that may include the oral cavity and nails. Many patients with the Dowling-Meara phenotype are at increased risk of sepsis and death during infancy. The treatment of EB is generally supportive. The tissue-engineered skin used (Apligraf) is a bilayered human skin equivalent developed from foreskin. It is the only Food and Drug Administration-approved skin equivalent of its kind. It is approved for the treatment of venous ulcers of the lower extremities. It has also been used to treat acute wounds, such as graft donor sites and cancer excision sites.

OBSERVATION: To our knowledge, we describe the first case in which a newborn with EB, Dowling-Meara variant, was treated with bilayered tissue-engineered skin. The areas treated with the tissue-engineered skin healed faster than the areas treated with conventional therapy. Most of the areas treated with tissue-engineered skin have remained healed, without developing new blisters. These areas appear to be more resistant to trauma.

CONCLUSIONS: Our early success with tissue-engineered skin in this patient may have a significant impact on the future treatment of neonates with EB simplex. Future studies are needed to determine if the beneficial effects of tissue-engineered skin are reproducible in other neonates with EB simplex and in patients of all ages with different subtypes of EB. Br J Plast Surg 1998 Dec;51(8):608-13 Related Articles, Books, LinkOut Surgical management of hands in children with recessive dystrophic epidermolysis bullosa: use of allogeneic composite cultured skin grafts. Eisenberg M, Llewelyn D. Sydney Children's Hospital, Randwick, NSW, Australia. Recessive dystrophic epidermolysis bullosa (RDEB) is characterised by progressive childhood hand syndactyly and flexion contractures, which can be managed surgically but require split thickness autografts to facilitate satisfactory postoperative healing. We report on the partial substitution, for autografts, of improved composite cultured skin (CCS) allografts. The structure and preparation of these CCSs is outlined and their application in the course of 16 operations performed on 7 RDEB children with syndactyly and flexor contractures of fingers is described. Hand contractures were released and web spaces were covered with local flaps and split thickness autografts, while adjacent sides of the digits and other areas, as well as donor sites were generally grafted with CCS. Morphologic and functional results with CCS were judged to be good to excellent, the average time to recurrence was increased approximately 2-fold and smaller autografts needed to be used. In addition, healed CCS-treated donor sites could provide superior donor sites for further surgery.

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