Novel TGM1 Missense Mutation p.Arg727Gln in a Case of Self-healing Collodion Baby

Abstract

Collodion babies are newborns encased in a glistening membrane that cracks in a characteristic manner within 48 h and desquamates in large lamellae after a few days. Most collodion babies later develop one of the several types of autosomal recessive congenital ichthyoses (ARCI), such as lamellar ichthyosis (LI) or congenital ichthyosiform erythroderma; however, about 10% heal spontaneously (1). This healing condition is known as “self-healing collodion baby” or “self-improving collodion baby” (SHCB/SICB). Raghunath et al. (1) showed that this phenotype is possibly a hydrostatic pressuresensitive phenotype of TGM1 mutations. The SHCB/ SICB phenotype was subsequently reported in patients with ALOX12B and ALOXE3 mutations (2). To date, few reports on SHCB/SICB cases with TGM1 mutations have been published (1–4). TGM1 is the most commonly involved gene in ARCI, and encodes transglutaminase-1 (TGase-1) (1, 5–8). Here, we describe an ARCI patient with a novel TGM1 mutation who presented at birth with a collodion membrane but spontaneously healed within 2 months without any skin manifestations.