Article
Phenotypic suppression of acral peeling skin syndrome in a patient with autosomal recessive congenital ichthyosis.
Experimental dermatology - 1 Aug 2020
Mohamad Janan, Nanda Arti, Pavlovsky Mor, Peled Alon, Malchin Natalia, Malovitski Kiril, Pramanik Rashida, Weissglas-Volkov Daphna, Shomron Noam, McGrath John, Sprecher Eli, Sarig Ofer
Abstract excerpt
Autosomal recessive congenital ichthyosis (ARCI) manifests with generalized scaling often associated with generalized erythema. Mutations in at least 13 different genes have been reported to cause ARCI. Acral peeling skin syndrome (APSS) is a rare autosomal recessive disorder manifesting with peeling over the distal limbs and dorsal surfaces of hands and feet. APSS is mostly due to mutations in TGM5, encoding...
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