Congenital Nonbullous Ichthyosiform Erythroderma (CNE) is a rare and inherited skin disorder characterized by the abnormal appearance and function of the skin. It is considered nonbullous because it typically does not produce blisters.
People affected by CNE have dry, scaly skin with a red appearance (erythroderma), giving the skin the appearance of fish scales (ichthyosis). The scaling is most prominent on the trunk, extremities, and sometimes the face. The severity and distribution of the scaling can vary widely among individuals with CNE. The constant shedding of skin can lead to itching and discomfort. Additionally, patients with severe CNE may experience hair loss and thickened, brittle nails.
CNE is an inherited condition and is usually caused by mutations in certain genes, particularly in the ALOX12B, ALOXE3, and TGM1 genes, which play important roles in the production and maintenance of the skin's protective barrier.
The condition typically appears at birth or shortly thereafter and persists throughout life, although it may improve with age. CNE is usually diagnosed based on a clinical examination of the skin and genetic testing.
There is no cure for CNE, but treatment focuses on managing the symptoms and preventing complications. Daily skin care routines consisting of regular bathing, moisturizing, and exfoliation can help reduce scaling and dryness. Prescription creams containing urea, salicylic acid, or lactic acid may also be used to promote skin shedding. In more severe cases, oral retinoids may be prescribed to manage symptoms. Additionally, avoiding triggers like harsh soaps, extreme temperatures, and certain fabrics can help prevent flare-ups. Regular monitoring and support from dermatologists can significantly improve the quality of life for individuals with
