A case of lamellar ichthyosis due to a novel TGM1 mutation associated with Parkinson's disease

The transglutaminase 1 (TGM1) gene is a major causative gene of autosomal recessive congenital ichthyoses (ARCI), including lamellar ichthyosis (LI), congenital ichthyosiform erythroderma, self-healing/self-improving collodion baby, and bathing suit ichthyosis (BSI) [1, 2]. Additionally, a mutation in the epidermal lipase N gene (LIPN) was found to cause a late-onset form of ARCI [3]. To date, 12 genes responsible for ARCI have been identified: TGM1, ALOX12B, ALOXE3, ABCA12, CYP4F22, NIPAL4, SDR9C7, [...]