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Did you mean Hypohidrotic Ectodermal Dysplasia?

Glossary Hypohidrotic 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.

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research Anhidrotic Ectodermal Dysplasia: Predisposition to Bronchial Disease

32 citations , January 1971 in “Annals of Internal Medicine”

This study observed that severe bronchitis may occur in individuals with anhidrotic ectodermal dysplasia when exposed to a dusty environment, potentially due to abnormalities in the bronchial mucosa.

research Genotype-phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasia

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

The study reported a significant genotype–phenotype correlation in prepubescent males with XLHED, particularly in the severity of skin and hair manifestations between those with different EDA mutations.

research Orai1 expression pattern in tooth and craniofacial ectodermal tissues and potential functions during ameloblast differentiation

15 citations , July 2015 in “Developmental Dynamics”

This study highlights the role of Orai1 in ameloblast differentiation and maturation, showing that its down-regulation affects cell proliferation and enamel formation during tooth development.

research Store-operated calcium channels in skin

6 citations , October 2022 in “Frontiers in Physiology”

This review discusses the roles of store-operated Ca 2+ entry proteins in skin cell function and their links to various skin diseases, but it reports no new results.

research Scleromyxedema with neurologic involvement: Therapy with intravenous immunoglobulin

February 2010 in “Journal of the American Academy of Dermatology”

This case report describes a 4-month-old boy with anhidrotic ectodermal dysplasia and immunodeficiency who showed minimal improvement with initial treatments but significant improvement after an umbilical cord blood transplantation.

Mutational Spectrum in 101 Patients with Hypohidrotic Ectodermal Dysplasia and Breakpoint Mapping in Independent Cases of Rare Genomic Rearrangements

research Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements

30 citations , June 2016 in “Journal of Human Genetics”

This study found pathogenic mutations in genes EDA, EDA1R, and EDARADD in 101 out of 124 hypohidrotic ectodermal dysplasia patients, revealing 23 novel mutations and indicating genetic variability.

research Molecular basis of hypohidrotic ectodermal dysplasia: an update

85 citations , August 2015 in “Journal of Applied Genetics”

This review discusses recent insights into the molecular mechanisms of hypohidrotic ectodermal dysplasia linked to TNFα-related signaling pathway mutations but reports no new experimental results.

Interplay Between EDA-EDAR and WNT Signaling Pathways in the Development of Skin Appendages in Hypohidrotic Ectodermal Dysplasia

research Interplay between EDA-EDAR and WNT signalling pathways in the development of skin appendages in hypohidrotic ectodermal dysplasia

1 citations , April 2025 in “Pediatria i Medycyna Rodzinna”

This research re-analyzed single-cell gene expression data from a mouse model, confirming that certain genes involved in the EDA-EDAR and WNT pathways are crucial for skin appendage development, suggesting that their restoration may mitigate the effects of hypohidrotic ectodermal dysplasia in children.

research Advances in the genetic understanding of hypohidrotic ectodermal dysplasia

1 citations , November 2017 in “Expert opinion on orphan drugs”

This review discusses the genetic basis of ectodermal dysplasia, highlighting that identification of gene pathologies enhances diagnosis and supports prenatal DNA testing, but it reports no new clinical results.

Mutational Spectrum of EDA, EDAR, EDARADD, and WNT10A Genes in the Largest Cohort of Russian Patients With Hypohidrotic Ectodermal Dysplasia

research Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia

February 2026 in “Orphanet Journal of Rare Diseases”

This study identified pathogenic or likely pathogenic gene variants in 70.1% of Russian families affected by hypohidrotic ectodermal dysplasia, expanding knowledge of causative mutations.

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”

This case report observed that after 6 months of treatment with topical cetirizine and oral vitamin D, hair density and quality improved in three girls with congenital hypotrichosis due to ectodermal dysplasia.

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

96 citations , June 2017 in “Nature Communications”

This study identified WNT10A as crucial for adult epithelial cell proliferation and differentiation, suggesting β-catenin pathway activation may help address regenerative defects in WNT10A mutation patients.

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”

This case report describes a patient with Clouston's syndrome and alopecia who responded positively to topical treatment with minoxidil and tretinoin.

research Hair shaft structures in EDAR induced ectodermal dysplasia

5 citations , September 2015 in “BMC Medical Genetics”

In this study, individuals with a c.1072C > T mutation in the EDAR gene showed more hair shaft deformations compared to non-mutation carriers, highlighting EDAR's role in hair follicle development.

research Ectodermal Dysplasia: Otolaryngologic Manifestations and Management

37 citations , June 2002 in “The Laryngoscope”

This study describes the otolaryngologic manifestations and multidisciplinary management strategies for 12 patients with ectodermal dysplasia, emphasizing the importance of early recognition for effective treatment.

research An Interesting Case of X-linked Hypohidrotic Ectodermal Dysplasia

October 2024 in “Cureus”

This report describes a patient with X-linked hypohidrotic ectodermal dysplasia who lacked the usual hair growth issues, highlighting the challenge of diagnosing this condition due to atypical presentations and underscoring the need for awareness to improve management and future planning.

Significant Correction of Disease After Postnatal Administration of Recombinant Ectodysplasin A in Canine X-Linked Ectodermal Dysplasia

research Significant Correction of Disease after Postnatal Administration of Recombinant Ectodysplasin A in Canine X-Linked Ectodermal Dysplasia

109 citations , October 2007 in “American Journal of Human Genetics”

This study found that postnatal treatment with recombinant EDA normalized adult teeth, improved sweating, and restored normal lacrimation in dogs with XLHED, suggesting its potential as a treatment for the condition.

Characterization of X-Linked Hypohidrotic Ectodermal Dysplasia Hair and Sweat Gland Phenotypes Using Phototrichogram Analysis and Live Confocal Imaging

research Characterization of X‐linked hypohidrotic ectodermal dysplasia (XL‐HED) hair and sweat gland phenotypes using phototrichogram analysis and live confocal imaging

15 citations , May 2013 in “American Journal of Medical Genetics - Part A”

People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.

research A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family

August 2025 in “BMC Pregnancy and Childbirth”

In this study, prenatal ultrasonography was found to be a valuable tool for screening ectodermal dysplasia during pregnancy, and a new EDA gene variant associated with X-linked hypohidrotic ectodermal dysplasia was identified, aiding in more accurate diagnoses and reproductive decision-making.

research Ectodermal Dysplasia: Variable Expressions

November 2025 in “Indian Journal of Dermatology”

This study reports a rare cluster of four patients with ectodermal dysplasia, highlighting its typical dental and dermatological manifestations and the necessity of multidisciplinary management.

research EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia

June 2024 in “Genes”

This study identified a missense variant in the EDA gene of a male cat, which likely caused hypohidrotic ectodermal dysplasia, characterized by hair and teeth abnormalities; this represents the first report of such a genetic condition in cats.

research Hypohidrotic Ectodermal Dysplasia with c.28delG Mutation in Ectodysplasin A Gene and Severe Atopic Dermatitis Treated Successfully with Tofacitinib

4 citations , November 2020 in “Acta Dermato Venereologica”

In this study, patients with specific skin and scalp conditions, including eczematous lesions, showed significant improvement after two weeks of oral tofacitinib treatment, as evidenced by changes in the trunk lesions.

research X-linked Recessive Ectodysplasin A Mutations Induced Hypohidrotic Ectodermal Dysplasia and Severe Atopic Dermatitis Successfully Treated with Dupilumab

January 2026 in “Acta Dermato Venereologica”

This source reports that four weeks of dupilumab treatment led to notable improvement in skin lesions, including multiple erythematous patches and papules on the face, back, and limbs.

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 Unraveling the Link Between Ectodermal Disorders and Primary Immunodeficiencies

9 citations , March 2015 in “International reviews of immunology”

This review discusses the relationship between ectodermal alterations and immunodeficiencies, particularly the roles of hyper-IgE syndrome, ectodermal dysplasia, and FOXN1 gene mutations, but it presents no new research findings.

research Identification of Ectodysplasin Target Genes Reveals the Involvement of Chemokines in Hair Development

48 citations , January 2012 in “The journal of investigative dermatology/Journal of investigative dermatology”

This study identified chemokine receptor ligands cxcl10 and cxcl11 as new hair-specific transcriptional targets of the Eda pathway, suggesting chemokine signaling plays a role in primary hair follicle patterning.

research Biology and Genetics of Hair

89 citations , September 2010 in “Annual Review of Genomics and Human Genetics”

This review discusses the genetic factors involved in hair follicle morphogenesis and cycling and reports no new clinical results; it emphasizes the role of genes in hereditary hair diseases.

research Ectodysplasin research—Where to next?

30 citations , June 2014 in “Seminars in Immunology”

This review discusses recent advances in understanding the Eda pathway's role in developmental biology, and highlights ongoing trials and areas for further research, including Eda's potential involvement in cell processes and disease.

research Inherited Disorders of the Hair

2 citations , January 2013 in “Elsevier eBooks”

The document explains the genetic causes and characteristics of inherited hair disorders.

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.