John Libbey Eurotext

European Journal of Dermatology

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

Illustrations

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Auteurs
1 Department of Dermatology,
Nagoya University Graduate School of Medicine, 65 Tsurumai-cho,
Showa-ku,
Nagoya 466-8550,
Japan
2 Center for Advanced Medicine and Clinical Research,
Nagoya University Hospital,
Nagoya,
Japan
3 Department of Pediatrics,
Nagoya University Graduate School of Medicine,
65 Tsurumai-cho,
Showa-ku,
Nagoya 466-8550,
Japan
4 Hoshino Clinic of Dermatology,
Nagoya,
Japan
a These authors contributed equally

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, [...]