Thelansis

  Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of keratinization disorders recognized by abnormal skin scaling over the entire body and classified as non-syndromic and syndromic forms of ichthyosis. ABCA12, ALOX12B, ALOXE3, CASP14, CERS3, CYP4F22, LIPN, NIPAL4, PNPLA1, SDR9C7, SLC27A4, and TGM1 are the twelve genes known to be involved with ARCI; at least 15% of affected families do not have pathogenic variants in any of the known genes. 60% to 70% of the patients have severe symptoms such as collodion membrane at birth. The two main phenotypes are lamellar ichthyosis and congenital ichthyosiform erythroderma; however, phenotypic overlap can occur in the same patient or patients from the same family. Some patient exhibits nonlamellar, non-erythrodermic ichthyosis. It also includes harlequin ichthyosis, acral self-healing collodion baby, self-healing collodion baby, and bathing suit ichthyosis. The estimated prevalence at birth of 1 per 100 000 popul...