Novel TGM1 mutation in a Pakistani family affected with severe lamellar ichthyosis

Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of cornification disorders comprising the  following three clinical subtypes: lamellar ichthyosis (LI; OMIM#146750), harlequin ichthyosis (HI; OMIM#242500), and congenital ichthyosiform erythroderma (CIE; OMIM#242100).1 LI is a rare form of ARCI (prevalence 1:200,000) presenting with a collodion membrane at birth along with erythema that l ater develops into thick brown-colored scales accompanied by palmoplantar keratoderma, ectropion, eclabium, alopecia, and hypohidrosis.

Source: Pediatrics and Neonatology - February 3, 2018 Category: Perinatology & Neonatology Authors: Madiha Rasheed, Noreen Karim, Faiez Ahmed Shah, Muhammad Naeem Tags: Short Communication Source Type: research