Case report on Lamellar ichthyosis with a novel frameshift/truncating NIPAL4 mutation
13-month old female child with history of collodion membrane at birth, followed by generalised scaling and pruritus On examination, generalised thick brown adherent scales, palmoplantar keratoderma was present and diagnosed to be lamellar ichthyosis.On investigation, Vitamin D level was normal. Targeted exome sequencing was done and detected to be a homozygous single base pair deletion in exon 4 of the the Nipa-like Domain-Containing 4 (NIPAL4) gene (chr5:g.157468808del, GRCh38) resulting in frameshift and premature truncation of the protein at codon 141 (c.529Ter; p. Ile141Ter) , variant classified as pathogenic variantTreatment given: 10,000 IU vitamin D3 per day for 10 daysTreatment response: Reduction in scaling and pruritus since day 8 and sustained at 4 months review.