General Junctional Epidermolysis bullosa (JEB) is a rare genetic based skin disease in which the epidermal layer is unable to maintain connection with the underlying dermis, leading to large chronic wounds, blisters, and unbelievable pain. Children suffering from this disease have been eloquently named “butterfly” children, because their skin is considered to be as fragile as a butterfly's wings. The genetic cause of this disorder, is a mutation in one of the many specific regions within the hetero-chimeric protein laminin 322, including laminin (LAM) A3, B3, and C2. The child noted in this particular case study has a homozygous acceptor splice site mutation (C1977-1G> A, IVS 14-1G> A) within intron 14 of LAMB3; a region of laminin 322 responsible for the anchoring of epidermal cells to the dermis below. At 7 years old, he had complete epidermal loss on about 60% of his body, with blisters and sores covering another 25% and two life threatening bacterial infections. As a last hope, he was entered into a new clinical trial using a mixture of gene therapy and stem cell therapy to try to generate some “normal” skin for JEB patients. In the beginning of the trial in 2015, clinicians performed a biopsy from a 4 cm2 area of undamaged skin from the patients left inguinal region. From this culture, keratinocytes were isolated and expanded until they began to form cell sheets. These sheets were transduced with a retroviral vector expressing the full-length LAMB3 cDNA under the control of the Moloney leukaemia virus long terminal repeat 13. Once the cells sheets were fully expanded, 0.85m2 of transgenic epidermal graft was transplanted along the patients body on a properly prepared dermal wound bed. Within a matter of weeks, the newly placed cell sheets adhered directly to the patients underlying dermis with normal morphology, elasticity, wound healing behavior, and most importantly, normal levels of LAMB3. When this article was being written, the authors also noted that the patient’s skin transplant is still functioning normally and the little boy is happier then he has ever been.
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