Thelansis

  Lamellar ichthyosis (LI) is a genetically heterogeneous keratinization disorder inherited in an autosomal recessive manner. It is classified as a subtype of autosomal recessive congenital ichthyosis (ARCI), a spectrum of nonsyndromic ichthyoses caused by genetic mutations in various genes. The disease course of LI varies from mild to severe, with severe cases involving complications such as ectropion, eclabium, scarring alopecia of the scalp and eyebrows, and palmar and plantar hyperkeratosis. The presenting feature of LI in neonates is a collodion membrane, which eventually dries and peels away, leaving behind a brown, plate-like scale that covers the entire body. The underlying genetic mutations that cause LI have been identified in various genes, including TGM1, ABCA12, ALOX12B, and NIPAL4. Most mutations are found in the TGM1 gene, which encodes transglutaminase 1, a protein forming the epidermal cornified cell envelope. Patients with LI have a normal life expectancy. Howev...

Lamellar ichthyosis (LI) is a genetically heterogeneous keratinization disorder inherited in an autosomal recessive manner. It is classified as a subtype of autosomal recessive congenital ichthyosis (ARCI), a spectrum of nonsyndromic ichthyoses caused by genetic mutations in various genes. The disease course of LI varies from mild to severe, with severe cases involving complications such as ectropion, eclabium, scarring alopecia of the scalp and eyebrows, and palmar and plantar hyperkeratosis. The presenting feature of LI in neonates is a collodion membrane, which eventually dries and peels away, leaving behind a brown, plate-like scale that covers the entire body. The underlying genetic mutations that cause LI have been identified in various genes, including TGM1, ALOX12B, ABCA12, and NIPAL4. Most mutations are found in the TGM1 gene, which encodes transglutaminase 1, a protein forming the epidermal cornified cell envelope. Patients with LI have an average life expectancy. However, sk...