ichthyosis congenital autosomal recessive TGM1-related

(redirected from ARCI-TGM1)

ichthyosis congenital autosomal recessive TGM1-related

A disorder (OMIM:242300) of keratinisation with abnormal differentiation and desquamation of the epidermis linked to defects of TGM1, which encodes a transglutaminase, causing two major clinical entities:
(1) Lamellar ichthyosis; and
(2) Non-bullous congenital ichthyosiform erythroderma.