Stevens Johnson syndrome: A review of a vision and life-threatening mucocutaneous disease including histopathology with updates on pathogenesis and genetic risk factors.

BACKGROUND

The Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) spectrum of diseases are devastating blistering disorders involving mucosal surfaces with ocular sequelae that manifest particularly profound long-term morbidity. Advances in deoxyribonucleic acid (DNA) sequencing, genome-wide association studies, and both molecular and pharmacogenetics have helped clarify genetic susceptibility and characterize the iatrogenic risk of SJS for a given patient.

METHODS

A review of peer reviewed publications featured on PubMed pertaining to the clinical, pathologic, pharmacogenetic and molecular genetic features of SJS/TEN was conducted. Propose: To provide an in-depth clinicopathologic description of the ocular, ocular adnexal, and cutaneous findings in SJS/TEN, summarize pathogenesis and related conditions, and provide an update on the molecular genetic modifications that contribute to the phenotypic variations and genetic susceptibilities of SJS.

CONCLUSIONS

HLA subtyping and other genetic testing may eventually be valuable in the appropriate context to prevent the debilitating ocular sequelae of SJS, particularly as it relates to medication use.