Epidermolysis bullosa (EB) is a group of rare medical conditions that result in easy blistering of the skin and mucous membranes.

Loss or diminished function of type VII collagen leads to weakness in the structural architecture of the dermal–epidermal junction (DEJ) and mucosal membranes.

[citation needed] Junctional epidermolysis bullosa (JEB) is an inherited disease affecting laminin and collagen.

This disease is characterized by blister formation within the lamina lucida of the basement membrane zone[13]: 599  and is inherited in an autosomal recessive manner.

In individuals with healthy skin, there are protein anchors between these two layers (dermo-epidermal junction) that prevent them from moving independently from one another (shearing).

[17] EB individuals manifest unremitting skin blistering that evolves into chronic wounds, inflammation, and fibrosis.

External eye, esophagus, upper airway, and genitourinary tract are the epithelial surfaced tissues that are at particular risk.

[20] EB can be diagnosed either by a skin (punch) biopsy at the edge of a wound with immunofluorescent mapping, or via blood sample and genetic testing.

Many of these genes share substantial structural and functional similarity, but they are specialized to cell type and/or conditions under which they are normally produced.

[23] However, the immune suppression that bone marrow transplantation requires causes a risk of serious infections with large scale blisters and skin erosion.

[24] Indeed, at least four people have died in the course of either preparation for or institution of bone marrow transplantation for EB, out of only a small group of patients treated so far.

[25] A pilot study performed in 2015 suggests that systemic granulocyte-colony stimulating factor (G-CSF) may promote increased wound healing in people with dystrophic EB.

[26] Transplanting skin derived from genetically modified stem cells onto the wound surfaces has been studied with a report of improvements in one person.

[34] The most common side effects include wound complications such as skin reactions at the application site, infections, pruritus (itching), and hypersensitivity.

[33] The Epidermolysis Bullosa Disease Activity and Scarring index (EBDASI) is a scoring system that objectively quantifies the severity of EB.

The EBDASI was developed and validated by Professor Dedee Murrell and her team of students and fellows at the St George Hospital, University of New South Wales, in Sydney, Australia.

[47] The condition was brought to public attention in 2004 in the UK through the Channel 4 documentary The Boy Whose Skin Fell Off, chronicling the life and death of Jonny Kennedy, an Englishman with EB.

[49] In Canada, The Sports Network's award-winning documentary on Jonathan Pitre led to extensive coverage on the boy's disease, treatment, and death.