BackgroundEpidermolysis bullosa (EB) and autoimmune blistering diseases (AIBD) describe a group of rare chronic dermatoses characterized by cutaneous fragility and blistering. Although uncommon, significant ocular surface disease (OSD) may occur in both and require ophthalmological assessment. Disease scoring systems have a critical role in providing objective and accurate assessment of disease severity. The objectives of this report were, firstly, to document the prevalence and severity of ocular involvement in EB/AIBD. Secondly, to review and evaluate existing ocular and systemic scoring systems for EB/AIBD. Finally, to identify areas where further development of ocular specific tools in EB/AIBD could be pursued.MethodsA literature search was performed in October 2017 utilising Medline, Embase, and Scopus databases. The results were restricted by date of publication, between 01.01.1950 and 31.10.2017. The reference lists of these articles were then reviewed for additional relevant publications. Articles of all languages were included if an English translation was available. Articles were excluded if they were duplicates, had no reference to ocular involvement in EB/AIBD or described ocular involvement in other diseases.ResultsDescriptions of ocular involvement in EB/AIBD were identified in 88 peer-reviewed journal articles. Findings reported include but are not limited to: cicatrising conjunctivitis, meibomian gland dysfunction, dry eye disease, trichiasis, symblepharon, fornix fibrosis, keratopathy, ectropion/entropion, ankyloblepharon, corneal ulceration, visual impairment and blindness. Although scoring systems exist for assessment of OSD in mucous membrane pemphigoid, no such tools exist for the other AIBD subtypes or for EB. Several systemic scoring systems exist in the dermatological literature that are efficacious in grading overall EB/AIBD severity, but have limited inclusion of ocular features. To the best of our knowledge, there is no recognised or validated scoring systems which comprehensively stages or grades the spectrum of ocular manifestations in EB/AIBD.ConclusionsThere are a range of ocular complications documented in EB and AIBD. Development of a comprehensive ocular scoring system for EB/AIBD which incorporates the delineation between ‘activity’ and ‘damage’ would facilitate more objective patient assessment, improved longitudinal monitoring, comparison of intervention outcomes, and provide commonality for discussion of these patients due to the multidisciplinary nature of their care.

Epidermolysis bullosa (EB) refers to a group of rare genodermatoses characterized by mucocutaneous fragility with blistering and erosions on minimal trauma. 1 There are four main types: EB simplex (EBS), dystrophic EB (DEB), junctional EB (JEB) and Kindler type .EB is phenotypically heterogeneous, and common clinical manifestations include cutaneous vesiculobullous lesions, and many multi-organ system complications, 2 including malnutrition, 3-5 anaemia, 6 pubertal delay 7 and failure to thrive. 8,9 EB patients often have decreased physical activity as a result of painful blistering affecting pressure-prone areas, 10 debilitating digit deformities such as pseudosyndactyly and chronic fatigue from anaemia. 6 Decreased physical activity from childhood 11,12 can compromise peak BMD, which is typically achieved by the third decade of life. 13 This can increase the lifetime risk of osteoporosis and fractures. 14

Autoimmune blistering diseases negatively impacts upon work productivity and activity. Stigmatization was common in the workplace which leads to increased stress, itself a stimulator of pemphigus.