Novel KIT mutation presenting as marked lentiginosis.

Although lentigines are usually benign, they can be associated with a number of genetic syndromes in which neoplasms and other multi-system pathological processes occur. Here, we report the case of a 6-year-old girl who presented with atypical lentiginosis and hyperpigmentation caused by a de novo genetic variant in the KIT gene.

Stevens Johnson syndrome and toxic epidermal necrolysis - an Australian analysis of treatment outcomes and mortality.

Background: Stevens Johnson Syndrome (SJS) and Toxic Epidermal Necrolysis (TEN) are rare diseases with devastating consequences on morbidity and mortality. There are currently no standardized guidelines for treatment of SJS/TEN in Australia. Method: Retrospective chart review of all SJS/TEN cases treated at the Royal Adelaide Hospital from 2000 to 2017. Result: A total of 42 patients were identified (SJS = 18, TEN = 24). The average age of presentation for SJS was 45.8 years and 54.9 years for TEN. The overall mortality rate was 19%. Comparing the data between 2000-2009 and 2010-2017, there was an improvement in mortality in those who were treated with intravenous immunoglobulin (IVIg) compared to those who were treated with systemic steroids (mortality rate 27.2% vs. 50%). There were a total of 12 TEN patients admitted to the Burns unit, with only 2 observed deaths (mortality rate 16.7%). Conclusion: There was an improvement in mortality in those who were treated with IVIg and supportive care compared to those who were treated with systemic steroids and supportive care. Early admission into burns unit may also improve mortality outcomes. However, treatment paradigms in skin care and supportive measures have improved over the length of the study period, which makes definitive conclusions difficult.