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GlossaryDesmoplakin (DSP gene)

protein essential for cell adhesion in skin and heart tissues

Desmoplakin is a protein crucial for the structural integrity of cells, particularly in tissues that experience mechanical stress, like the skin and heart. It is a key component of desmosomes, which are specialized cell structures that anchor cells together. Mutations in the DSP gene, which encodes desmoplakin, can lead to conditions such as arrhythmogenic right ventricular cardiomyopathy and certain skin disorders.

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research A Novel Homozygous Variant in the DSP Gene Underlies the First Case of Non-Syndromic Form of Alopecia

2 citations, July 2015 in “Archives of Dermatological Research”

A new gene variant in the DSP gene is linked to a unique type of hair loss.

DSP c.6310delA p.(Thr2104Glnfs*12) Associates With Arrhythmogenic Cardiomyopathy, Increased Trabeculation, Curly Hair, and Palmoplantar Keratoderma

research DSP c.6310delA p.(Thr2104Glnfs*12) Associates With Arrhythmogenic Cardiomyopathy, Increased Trabeculation, Curly Hair, and Palmoplantar Keratoderma

1 citations, March 2023 in “Frontiers in Cardiovascular Medicine”

A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.

research Current Genetics in Hair Diseases

1 citations, February 2013 in “InTech eBooks”

Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.

research A Scandinavian Case of Skin Fragility, Alopecia, and Cardiomyopathy Caused by DSP Mutations

11 citations, December 2013 in “Clinical and experimental dermatology”

A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.

research Successful Use of Topical Minoxidil in the Treatment of Hypotrichosis Associated with Desmoplakin Mutations

1 citations, August 2019 in “Pediatric dermatology”

Topical minoxidil helped an 8-year-old boy with a genetic hair disorder grow hair.

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community People treat me so different when I was bald compared to my comb over.

in Chat 226 upvotes 2 months ago

The user feels treated better with a comb-over than when bald due to cancer. They are considering a hair transplant and using finasteride and minoxidil for hair loss.