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.
Doctor turned coder, Information Systems PhD, OpenMRS & OSCAR EMR wizard, loves Canadian wine and beer, believes in coding to save lives. [Resume]
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