The South African “Bathing Suit Ichthyosis” Is a Form of Lamellar Ichthyosis Caused by a Homozygous Missense Mutation, p.R315L, in Transglutaminase 1

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The South African “Bathing Suit Ichthyosis” Is a Form of Lamellar Ichthyosis Caused by a Homozygous Missense Mutation, p.R315L, in Transglutaminase 1 Ken Arita, Witold K. Jacyk, Vesarat Wessagowit, Elizabeth Jansen van Rensburg, Tracy Chaplin, Charles A. Mein, Masashi Akiyama, Hiroshi Shimizu, Rudolf Happle, John A. McGrath Journal of Investigative Dermatology Volume 127, Issue 2, Pages 490-493 (February 2007) DOI: 10.1038/sj.jid.5700550 Copyright © 2007 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Clinical features of individuals with BSI. Coarse brown/black skin scaling is restricted to (a) trunk and (b) scalp, sparing the face, (c) buttocks, and extremities. Journal of Investigative Dermatology 2007 127, 490-493DOI: (10.1038/sj.jid.5700550) Copyright © 2007 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 DNA sequencing demonstrates that BSI is due to a homozygous missense mutation in TGM1 and is therefore allelic to lamellar ichthyosis. (a) Sequencing reveals a homozygous single-nucleotide transversion in TGM1 (NM_000359 c.944G>T) in the affected individuals which converts an arginine residue (CGT) to leucine (CTT), designated p.R315L. (b) Illustration of all previously reported mutations in TGM1 within the postulated sub-domains of the transglutaminase 1 protein (Candi et al., 2005). The resultant clinical phenotypes are indicated by different colors: black, lamellar ichthyosis; blue, non-bullous congenital ichthyosiform erythroderma; green, both lamellar ichthyosis and non-bullous congenital ichthyosiform erythroderma; red, the mutation defined in BSI, although a case of classical lamellar ichthyosis with this mutation has also been reported (ref. Tok et al., 1999). *Self-healing collodion baby as well as lamellar ichthyosis has been reported for this mutation (Raghunath et al., 2003). **A case of lamellar ichthyosis sparing the face and extremities, with some clinical similarities to BSI, has been reported for this mutation (Petit et al., 1997). ***Self-healing collodion baby with no residual scaling has been reported for this mutation (Raghunath et al., 2003). One further unrepresented mutation in the promoter region (−86C>T) has been reported in a case of lamellar ichthyosis (Cserhalmi-Friedman et al., 2001). Journal of Investigative Dermatology 2007 127, 490-493DOI: (10.1038/sj.jid.5700550) Copyright © 2007 The Society for Investigative Dermatology, Inc Terms and Conditions