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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.

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 Novel Biallelic RIPK4 Mutations Cause Ectodermal Dysplasia with Cutaneous Syndactyly

September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology”

New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.

research Rapp-Hodgkin Syndrome: A Review of Hair and Hair Color Aspects

25 citations, September 2005 in “Journal of the American Academy of Dermatology”

Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.

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community Verteporfin and Microneedling

in Treatments 4 months 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.