Applied Bimatics - An Informatics & eHealth Blog

I am a clinician with a passion for informatics. This blog is about my eHealth journey exploring interoperability in Electronic Medical Records (EMR/EHR), Patient Safety, Pharmacovigilance, Data Analytics, Clinical Research and Bioinformatics in a clinical context. Comparing Canadian, Indian and Middle Eastern healthcare systems and services. Join our open facebook group here: https://www.facebook.com/groups/clinical.bioinformaticians/


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.


Post a Comment

All comments, questions and criticisms welcome. Relevant comments with hyperlinks will be accepted. Though this form is not CommentLuv enabled, interesting and useful comments will be acknowledged with DoFollow links in the body of the post. Irrelevant comments and spam will be deleted.

Links to this post:

Create a Link

<< Home

About Me

As a Dermatologist and Informatician my research mainly involves application of bioinformatics techniques and tools in dermatological conditions. However my research interests are varied and I have publications in areas ranging from artificial intelligence, sequence analysis, systems biology, ontology development, microarray analysis, immunology, computational biology and clinical dermatology. I am also interested in eHealth, Health Informatics and Health Policy.

Address

Bell Raj Eapen
Hamilton, ON
Canada