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GlossaryEctodermal Dysplasia

genetic disorders affecting skin, hair, nails, teeth, and sweat glands

Ectodermal Dysplasia (ED) refers to a group of genetic disorders that affect the development of the ectodermal layer, which is responsible for forming the skin, hair, nails, teeth, and sweat glands. Individuals with ED often experience symptoms such as sparse hair, missing or malformed teeth, and an inability to sweat properly, which can lead to overheating.

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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 A Novel Pathogenic Variant of NECTIN4 Gene in a Child With Ectodermal Dysplasia-Syndactyly Syndrome

January 2023 in “Indian dermatology online journal”

A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.

Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs

research Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs

28 citations , February 2012 in “PLoS ONE”

A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.

research Ankyloblepharon-Ectodermal Dysplasia-Clefting Syndrome: Surgical and Medical Management in an Infant with Bilateral Corneal Perforations

June 2022 in “Indian Journal of Ophthalmology/Indian journal of ophthalmology”

Early and aggressive treatment is crucial for preserving vision in infants with AEC syndrome.

research A General Pediatric Approach to Ankyloblepharon–Ectodermal Dysplasia–Cleft Lip/Palate Syndrome in Infancy: A Case Report

February 2025 in “Journal of Paediatrics and Child Health”

Genetic analysis is crucial for diagnosing ectodermal dysplasia syndromes, and new therapies may help improve skin issues.

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community Hair loss research is a money grab

in Chat 227 upvotes 3 months ago

Hair loss is linked to DHT, with treatments like finasteride and minoxidil being common but not definitive. Economic interests influence research, and there is potential for new treatments like PP405 and RU58841.

community OFFICIAL Multi-Center Verteporfin Trial Recruitment

in Research/Science 251 upvotes 8 months ago

Recruitment for a verteporfin trial and a separate hair cloning trial using verteporfin and other methods is underway, with locations in Jordan, NYC, Beverly Hills, and Memphis. Dr. Bloxham is conducting the hair cloning trial, and interested participants are encouraged to contact him directly.

community Verteporfin and Microneedling

in Treatments 1 year ago

Clinical studies by Dr. Barghouthi and Dr. Bloxham indicate that Verteporfin, when used with FUE and FUT hair transplantation methods, shows promise in hair follicle regeneration and minimal scarring due to its ability to inhibit Yes-associated protein (YAP). Microneedling at depths of 3-3.5mm, combined with Verteporfin, could potentially reactivate dormant follicles, although the optimal dosage and application method are still under investigation. Concerns remain about the DHT sensitivity of regenerated follicles, highlighting the need for further research to optimize trauma levels and Verteporfin concentrations to achieve effective and scar-free hair regeneration.