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New KRT10 gene mutation underlying the annular variant of bullous congenital ichthyosiform erythroderma with clinical worsening during pregnancy

Bullous congenital ichthyosiform erythroderma (BCIE) is a rare autosomal dominant disease of cornification due to mutations in the keratin 1 or 10 genes. Phenotypic heterogeneity is often seen in BCIE and various distinct clinical variants have been documented. One particular subtype of BCIE was first reported in 1992 by Sahn et al. who described a family with annular and polycyclic erythematous plaques over the proximal extremities and trunk. Based on the clinicopathological features, the authors named this variant ‘annular epidermolytic ichthyosis’. A second family with similar annular plaques was subsequently reported; their disease was shown to be due to a heterozygous missense mutation in the KRT10 gene, p.R422E, which occurs within the 2B helical segment of keratin 10. Four further cases of this clinical variant of BCIE have been described. The pathogenic mutations in the affected individuals have comprised: p.I446T and p.A156P in KRT10,