KRT10 – Congenital Reticular Ichthyosiform Erythroderma

Congenital reticular ichthyosiform erythroderma (CRE) is a rare autosomal-dominant genodermatosis characterized by extensive erythroderma and a reticular scaling pattern from birth. Frameshift mutations in KRT10 or KRT1 typically underlie the phenotype via dominant-negative effects and revertant mosaicism. In a cohort of 26 families, the first patient with CRE carrying a non-arginine-rich KRT10 missense variant c.1345T>C (p.Tyr449His) was reported in a de novo setting, expanding the mutational spectrum beyond frameshifts ([PMID:26581228]). Only a single proband has been described, with no additional segregation data, supporting a Limited level of genetic evidence.

Clinical features in CRE extend beyond skin findings to include intellectual disability (HP:0001249), spasticity (HP:0001257), and symblepharon (HP:0430007), highlighting the utility of genetic diagnosis in guiding multidisciplinary management. Functional studies specific to KRT10 in CRE remain lacking, and no in vitro assays have confirmed the pathogenic mechanism of p.Tyr449His. Key take-home: Genetic testing for KRT10 should be considered in patients with CRE, especially when novel missense variants are identified, to enable accurate diagnosis and familial counselling.

References

• Acta dermato-venereologica • 2016 • Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis. PMID:26581228

Evidence Based Scoring (AI generated)