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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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WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes

research WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes

197 citations , June 2009 in “American journal of human genetics”

WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.

research Uncombable hair syndrome: Observations on response to biotin and occurrence in siblings with ectodermal dysplasia

101 citations , July 1985 in “Journal of the American Academy of Dermatology”

Biotin improved hair growth and combability in one child with uncombable hair syndrome.

research WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation

96 citations , June 2017 in “Nature Communications”

A WNT10A gene mutation leads to ectodermal dysplasia by disrupting cell growth and differentiation.

research A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type

60 citations , March 2006 in “Journal of Medical Genetics”

A mutation in the KRTHB5 gene causes hair and nail issues.

research Ectodermal Dysplasia: Otolaryngologic Manifestations and Management

37 citations , June 2002 in “The Laryngoscope”

Ectodermal dysplasia causes various symptoms and early treatment is important for eye, dental, and skin issues.

research Salivary gland function in persons with ectodermal dysplasias

32 citations , September 2003 in “European journal of oral sciences”

People with ectodermal dysplasias often have reduced saliva production and should get saliva tests.

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.

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.

Alopecia in Congenital Hidrotic Ectodermal Dysplasia Responding to Treatment with a Combination of Topical Minoxidil and Tretinoin

research Alopecia in congenital hidrotic ectodermal dysplasia responding to treatment with a combination of topical minoxidil and tretinoin

20 citations , January 2009 in “International Journal of Dermatology”

Hair loss in Clouston's syndrome improved with minoxidil and tretinoin treatment.

research Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation

11 citations , July 2010 in “European Journal of Dermatology”

The condition is linked to chromosome 12, but no mutations were found in the known genes.

research KID Syndrome: Report of a Case and Support for Its Reclassification as an Ectodermal Dysplasia

6 citations , May 2000 in “Pediatric Dermatology”

KID syndrome should be reclassified as an ectodermal dysplasia.

research Hair shaft structures in EDAR induced ectodermal dysplasia

5 citations , September 2015 in “BMC Medical Genetics”

The EDAR gene mutation leads to thinner and more deformed hair shafts.

research Child with De Novo t(1;6)(p22.1;p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delay

5 citations , February 2003 in “American Journal of Medical Genetics Part A”

A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.

research Topical cetirizine and oral vitamin D: a valid treatment for hypotrichosis caused by ectodermal dysplasia

4 citations , August 2016 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology”

Using cetirizine on the skin and taking vitamin D can help increase hair growth in children with hair loss from ectodermal dysplasia.

research Molecular mechanisms of ectodermal dysplasia syndromes

3 citations , June 2004 in “Työväentutkimus Vuosikirja”

Ectodermal dysplasia syndromes are caused by disruptions in key signaling pathways affecting tooth and hair development.

research A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia

2 citations , May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology”

A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.

research Ectodermal Dysplasia: Variable Expressions

November 2025 in “Indian Journal of Dermatology”

Early diagnosis and multidisciplinary care are crucial for improving the quality of life in patients with ectodermal dysplasia.

research Lichen Planopilaris with Pili Torti and Ectodermal Dysplasia: a hair curling case report.

July 2025 in “Case Reports in Dermatology”

Early detection and treatment are crucial to prevent irreversible hair loss in Lichen Planopilaris.

research Alopecia areata in a patient with WNT10A heterozygous ectodermal dysplasia

June 2021 in “Dermatology Online Journal”

A girl with a rare genetic condition affecting hair and nails also developed a common type of hair loss, suggesting a possible genetic link.

research 092 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 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR

April 2016 in “Journal of Investigative Dermatology”

Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.

research Genetic characterization of congenital defects in dogs : caudal dysplasia, ectodermal dysplasia and mucopolysaccharidosis VII

September 2013 in “Helda (University of Helsinki)”

Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.

research Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14

January 2026 in “Frontiers in Medicine”

A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.