LOR Gene

The LORICRIN gene is a protein coding gene located on chromosome 1q21.3. So far, several clinical pictures with mutations of the loricrin gene have been described:

• Keratosis palmoplantaris mutilans with mutation in loricin (Camisa type) (mutilating palmoplantar keratosis with cobblestone-like hyperkeratoses and ichthyosis).
• the "loricrin keratoderm" (a patchy palmoplantar keratosis associated with mild ichthyosis) first described by Takahashi and coworkers in 1999.

The LORICRIN gene encodes loricrin, a major protein component of the cornified cell envelope found in terminally differentiated epidermal cells (see loricrin below).