Thelansis

  Congenital recessive ichthyoses manifest as a diverse set of disorders marked by skin scaling and a thickened stratum corneum. Clinically, they present with symptoms such as red, dry, and rough skin, often adorned with large or fine white scales. Variability exists in scale appearance, ranging from delicate white to dark brown with deep cracks. The palms and soles may exhibit excessive thickening of the skin. These manifestations are mutations in genes like TGM1, which encodes transglutaminase 1, pivotal in forming the epidermal cornified cell envelope. Additionally, ABCA12, ALOX12B, ALOXE3, and CYP4F22 genes play lipid metabolism and transport roles. Complications can arise from severe cases, including skin dryness, tightness, and inelasticity, leading to cracking and fissures, particularly problematic in movement and daily tasks. Treatment of ichthyosis primarily focuses on hydration, lubrication, and keratolysis, achievable through topical agents or systemic retinoids for ke...