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hypohidrotic ectodermal dysplasia (HED) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypohidrotic ectodermal dysplasia

MONDO:0016535

Also known as:HEDanhidrotic ectodermal dysplasiaanhidrotic ectodermal dysplasia 1

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Overview

A genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency).

Clinical Trials2 registered · 1 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Abnormality of the dentition, Hypoplasia of the maxilla, Dry skin, and Thin skin and others; and common findings: Nephrotic syndrome, Xerostomia, Sinusitis, and Anteverted nares and others. 31 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	7	Dry skin, Thickened, rough skin (hyperkeratosis), Thin skin

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

No guidelines regarding diagnostic criteria for hypohidrotic ectodermal dysplasia (HED) have been developed.

Suggestive Findings

HED should be suspected in an individual with:

Source: GeneReviews — "Hypohidrotic Ectodermal Dysplasia"

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for hypohidrotic ectodermal dysplasia. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with hypohidrotic ectodermal dysplasia (HED), the evaluations summarized (if not performed as part of the evaluation that led to diagnosis) are recommended.

Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with Hypohidrotic Ectodermal Dysplasia

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations in are recommended. Table 6. Recommended Surveillance for Individuals with Hypohidrotic Ectodermal Dysplasia

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

2 clinical trials registered, 1 recruiting. Interventions under study include other interventions and biologic therapy. Pipeline includes 1 PHASE2. Research is sponsored by a mix of industry and academic institutions.

131 publications have been identified in PubMed for hypohidrotic ectodermal dysplasia. Kisho has analyzed 96 by research type. Research spans Case Report / Case Series (41%), Review / Meta-Analysis (20%), and Basic Science / Preclinical (18%).

Research Type	Count	% of Total
Patient case studies	39

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:238468

GARD

Genetic and Rare Diseases Info Center

GARD:76

Questions for Your Care Team

→Are any of the 2 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Differential Diagnosis

Numerous types of ectodermal dysplasia exist . Hypodontia with a vague history of heat intolerance or slight sparseness of the hair is particularly common and includes a broad differential diagnosis. The presence of onychodysplasia (inherent abnormalities of nail development) and other developmental abnormalities favor diagnoses other than hypohidrotic ectodermal dysplasia (HED). Ectodermal dysplasias that need to be considered in the differential diagnosis of HED are summarized in . Table 3. Ectodermal Dysplasias in the Differential Diagnosis of Hypohidrotic Ectodermal Dysplasia

Gene(s)	Disorder	MOI	Clinical Characteristics
Hair	Skin	Dental	Nails
DLX3	Trichodentoosseous syndrome (OMIM 190320)	AD	Kinky or curly hair
GJB2	Keratitis-ichthyosis-deafness syndrome (OMIM 148210)	AD	Sparse hair
Hidrotic ectodermal dysplasia 2	AD	Sparse hair or alopecia	Normal sweating ability, palmoplantar hyperkeratosis
HOXC13	Ectodermal dysplasia 9, hair/nail type (OMIM 614931)	AR	Hypotrichosis
IKBKG	Hypohidrotic ectodermal dysplasia w/immunodeficiency (OMIM 300291)	XL	Sparse hair
Incontinentia pigmenti	XL	Atrophic hair	Normal sweating ability, 4-stage skin rash,1 pigmentary involvement
KRT74	Ectodermal dysplasia 7, hair/nail type (OMIM 614929)	AR	Hypotrichosis
KRT85	Ectodermal dysplasia 4, hair/nail type (OMIM 602032)	AR	Hypotrichosis
MSX1	Witkop tooth nail syndrome (OMIM 189500)	AD	Normal hair
NFKBIA	Anhidrotic ectodermal dysplasia w/Tcell immunodeficiency (OMIM 612132)	AD	Sparse hair
TSPEAR	Ectodermal dysplasia 14 (OMIM 618180)	AR	Hypotrichosis of scalp, esp anterior

Source: GeneReviews — "Hypohidrotic Ectodermal Dysplasia"

Kisho

hypohidrotic ectodermal dysplasia

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Classic Hypohidrotic Ectodermal Dysplasia

Explore clinical features

Differential Diagnosis

Dental

Respiratory

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

The first report of hypohidrotic ectodermal dysplasia caused by a novel mutation and accompanied with pathological femoral neck fracture: A case report.

A growth-adjusted digital prosthetic protocol for a child with X-linked hypohidrotic ectodermal dysplasia: a 5-year longitudinal clinical report.

hypohidrotic ectodermal dysplasia

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Classic Hypohidrotic Ectodermal Dysplasia

Explore clinical features

Differential Diagnosis

Dental

Respiratory

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

The first report of hypohidrotic ectodermal dysplasia caused by a novel mutation and accompanied with pathological femoral neck fracture: A case report.

A growth-adjusted digital prosthetic protocol for a child with X-linked hypohidrotic ectodermal dysplasia: a 5-year longitudinal clinical report.