Based on clinical examination and genetic testing, a diagnosis of SICB was confirmed, with mutations identified in genes commonly associated with autosomal recessive congenital ichthyosis, such as ALOX12B, TGM1, ALOXE3, CYP4F22, and PNPLA1. The gene discussed is PNPLA1; the disease is autosomal recessive congenital ichthyosis.