"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).
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.
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:
What to do about the psuedosyndactyly, and which surgeons have the
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