Lamellar Ichthyosis

Lamellar Ichthyosis
Today a gentleman from UK came to me with photographs of his cousin with a rare autosomal recessive condition called ‘Lamellar Ichthyosis’ which I have posted in my Dermatology Blog. A review of literature shows that patients with lamellar ichthyosis have accelerated epidermal turnover with proliferative hyperkeratosis, in contrast to retention hyperkeratosis which is more common. This involves a mutation in the gene for transglutaminase 1 (TGM1). The transglutaminase 1 enzyme is involved in the formation of the cornified cell envelope. Please comment on the scope of exploring the TGM1 mutations with respect to this rare form of proliferative hyperkeratosis.