Search

for
Search:

GlossaryHypohidrotic Ectodermal Dysplasia

genetic disorder causing sparse hair, missing teeth, and reduced sweating

Hypohidrotic Ectodermal Dysplasia (HED) is a genetic disorder that affects the development of the skin, hair, nails, teeth, and sweat glands. Individuals with HED often have sparse hair, missing or malformed teeth, and an inability to sweat properly, which can lead to overheating. This condition is also known as anhidrotic ectodermal dysplasia or Christ-Siemens-Touraine syndrome.

Related Terms

Learn

0 / 0 results

— no results

Research

5 / 162 results

research Orai1 Expression Pattern in Tooth and Craniofacial Ectodermal Tissues and Potential Functions During Ameloblast Differentiation

15 citations , July 2015 in “Developmental Dynamics”

Orai1 protein is crucial for tooth development and affects enamel thickness and mineralization.

research Store-Operated Calcium Channels in Skin

6 citations , October 2022 in “Frontiers in Physiology”

Calcium channels are vital for normal skin function and their dysfunction can lead to skin issues.

research Genotype-Phenotype Correlation in Boys with X-Linked Hypohidrotic Ectodermal Dysplasia

35 citations , April 2014 in “American Journal of Medical Genetics”

Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.

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.

research Edar Signaling in the Control of Hair Follicle Development

71 citations , November 2005 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings”

Edar signaling is crucial for proper hair follicle development and function.

View more "anhidrotic ectodermal dysplasia" in research →

Community Join

0 / 0 results

— no results