Dermatopathology and Molecular Genetics

March 2008 in “ Journal of The American Academy of Dermatology ”

Reuven Bergman

epidermolysis bullosa ectodermal dysplasia/skin fragility syndrome congenital alopecias immunohistochemistry KRT5 KRT14 PKP1 CDH3 hypotrichosis with juvenile macular dystrophy vitamin D receptor VDR hairless gene EB EDSFS HJMD

TLDR Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.

In the 2008 review, the integration of dermatopathology and molecular genetics was shown to have significantly improved the diagnosis and understanding of inherited skin diseases, including epidermolysis bullosa (EB), ectodermal dysplasia/skin fragility syndrome (EDSFS), and congenital alopecias. Immunohistochemistry on paraffin sections was found to be effective in diagnosing EB, with an 85% diagnostic rate in a study of 39 cases. Histopathologic clues were used to identify mutations in genes like KRT5, KRT14, and PKP1. Advances in molecular genetics have also led to more precise classifications of congenital alopecias, with mutations in the CDH3 gene identified as the cause of hypotrichosis with juvenile macular dystrophy (HJMD). Similar clinical and histologic features in alopecias associated with mutations in the vitamin D receptor (VDR) and the hairless gene suggest an interaction between these genes. The review underscores the enhanced role of dermatopathology in diagnosing skin diseases due to molecular genetics.

View this study on jaad.org →

Discuss this study in the Community →

Cited in this study

4 / 4 results

research Histopathological and Ultrastructural Study of Ectodermal Dysplasia/Skin Fragility Syndrome

31 citations , August 2005 in “The American Journal of Dermatopathology”

The study concluded that PKP1 is essential for skin integrity and hair growth, and its dysfunction causes the symptoms of ectodermal dysplasia/skin fragility syndrome.

research Histopathology of Hypotrichosis with Juvenile Macular Dystrophy

19 citations , June 2004 in “The American Journal of Dermatopathology”

The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.

research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy

52 citations , November 2003 in “Journal of Investigative Dermatology”

Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.

research Atrichia Caused by Mutations in the Vitamin D Receptor Gene Is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene

139 citations , September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology”

Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.

1 / 1 results

research Evidence-Based Clinical Guidelines for Treatment: Acne and Androgenetic Alopecia

1 citations , March 2012 in “Journal of Dermatology and Cosmetic”