Autosomal Recessive Anhidrotic (Hypohidrotic) Ectodermal Dysplasia (ARHED)

Autosomal recessive anhidrotic/hypohidrotic ectodermal dysplasia (ARHED) is a rare inherited condition where parts of the body that come from the outer layer of the embryo (the ectoderm) do not form normally. The most affected body parts are the sweat glands, hair, teeth, skin, and sometimes nails. “Anhidrotic” means no sweating; “hypohidrotic” means reduced sweating. Most people with ARHED have little or no ability to sweat, sparse hair, and missing or cone-shaped teeth. Because sweating helps the body cool down, affected children can overheat easily, especially in hot weather or during a fever. ARHED happens when a child inherits two non-working copies of certain genes from their parents. Parents are usually healthy carriers. The main genes are EDAR, EDARADD, and WNT10A, which control a signal (the EDA/EDAR/NF-κB pathway) that tells early skin cells how to form sweat glands, hair follicles, and teeth. When the signal is weak or absent, those structures do not form normally. BioMed Central+3NCBI+3MedlinePlus+3

AR-HED is a rare genetic condition that affects body parts that grow from the “ectoderm,” such as skin, hair, teeth, nails, and sweat glands. The main signs are very few or no sweat glands (so the person overheats easily), very little or no teeth or teeth that are cone-shaped, thin or sparse hair, and dry skin and eyes. “Autosomal recessive” means a child is affected when they inherit a non-working copy of the gene from both parents. In AR-HED, the genes most often involved are EDAR, EDARADD, or WNT10A; these genes take part in a signaling pathway that helps ectoderm tissues form before birth. When the pathway is weak, sweat glands, teeth, hair, and glands that keep the eyes and mouth moist do not develop normally. NCBI+2nfed.org+2

People with AR-HED have little or no sweat, so their bodies cannot release heat well. This puts infants and children at high risk of dangerous fevers and heat illness, especially in hot weather or during exercise. The problem is lifelong, but careful planning, cooling, and hydration can prevent emergencies. NCBI Many children have missing teeth (hypodontia or anodontia), small or cone-shaped teeth, dry mouth, and sometimes jaw growth differences. Early dental care with dentures, partials, and later dental implants after growth can greatly improve biting, speech, nutrition, and appearance. nfed.org+2nfed.org+2

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Other names

• Autosomal recessive hypohidrotic ectodermal dysplasia (AR-HED)

• Autosomal recessive anhidrotic ectodermal dysplasia

• HED, autosomal recessive form

• EDAR-related HED (when due to EDAR)

• EDARADD-related HED (when due to EDARADD)

• WNT10A-related HED / WNT10A-related ectodermal dysplasia
  All of these describe the same overall problem: poor development of sweat glands, hair, and teeth caused by recessive variants in the EDA/EDAR signaling pathway. NCBI+1

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Types

Doctors group hypohidrotic/anhidrotic ectodermal dysplasia mainly by inheritance pattern and gene:

1. X-linked HED (XLHED) – caused by EDA variants on the X chromosome; the most common worldwide, but not autosomal recessive. Mentioned here to contrast types. NCBI

2. Autosomal recessive HED (ARHED) – the focus of this article. Usually due to EDAR, EDARADD, or WNT10A variants inherited from both parents. MedlinePlus+1

3. Autosomal dominant HED (ADHED) – some EDAR/EDARADD/WNT10A variants act in a dominant way; typically milder than XLHED/ARHED. rarediseases.info.nih.gov

Clinically, all three share the classic triad (reduced/absent sweating, sparse hair, missing/cone-shaped teeth), but ARHED can look similar to XLHED and often requires genetic testing to tell apart. NCBI+1

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Causes

In ARHED, “causes” are different genetic/mechanistic ways the EDA/EDAR/NF-κB pathway can be disrupted. The child must inherit two disease-causing variants (one from each carrier parent).

1. Biallelic loss-of-function variants in EDAR (e.g., nonsense/frameshift) that abolish EDAR receptor signaling. NCBI+1

2. Biallelic EDAR missense variants that change the receptor’s shape and reduce ligand binding or downstream signaling. BioMed Central

3. EDAR splice-site variants causing abnormal RNA splicing and truncated protein. BioMed Central

4. Small EDAR deletions/insertions that shift the reading frame. BioMed Central

5. Larger EDAR gene deletions removing key exons. BioMed Central

6. Biallelic EDARADD loss-of-function variants that block the adaptor protein needed for EDAR to signal to NF-κB. NCBI

7. EDARADD missense variants that weaken assembly of the EDAR–EDARADD complex. MDPI

8. WNT10A biallelic variants (common in some populations) reducing WNT signaling essential for tooth, hair, and gland development; can cause ARHED or HED-like ED. MedlinePlus+1

9. Compound heterozygosity (two different pathogenic variants in the same HED gene). BioMed Central

10. Promoter/regulatory variants that lower EDAR/EDARADD/WNT10A expression. (Observed in cohorts; mechanism consistent with reduced pathway output.) BioMed Central

11. Missense variants affecting EDAR death domain, impairing downstream NF-κB activation. MDPI

12. Variants affecting EDAR ligand-binding domain, preventing EDA-A1 docking. MDPI

13. EDARADD truncations that remove the death domain required for signaling to TRAF6/NF-κB. NCBI

14. WNT10A variants with hypomorphic effect, producing milder dental-predominant phenotypes that still meet ARHED criteria in biallelic state. BioMed Central

15. Pathway-level failure of EDA/EDAR/NF-κB signaling during early ectoderm morphogenesis (final common pathway). Frontiers

16. Consanguinity increasing the chance both parents carry the same rare recessive variant (an epidemiologic cause of AR inheritance clusters). (General genetics principle reflected across orphan disease cohorts.) orpha.net

17. Undetected structural variants in EDAR/EDARADD/WNT10A not captured by older tests (explains some “gene-negative” ARHED families). Europe PMC

18. Digenic/oligogenic contributions within the pathway (rare; suggested in research when a single variant seems insufficient). BioMed Central

19. Population founder variants (e.g., recurring WNT10A alleles) that raise local ARHED frequency. BioMed Central

20. Post-zygotic mosaicism in a carrier parent leading to recurrent affected children (rare mechanism seen in genetic disorders broadly; considered when segregation seems unusual). (Inference consistent with genetics practice; used when classic testing is unrevealing.) Europe PMC

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Symptoms and signs

1. Heat intolerance – the child overheats easily because they cannot sweat normally, so they get flushed, hot, and irritable in warm rooms or with fever. NCBI

2. Very little or no sweating (anhidrosis/hypohidrosis) – skin stays dry even during exercise; fevers can be higher and last longer. NCBI

3. Sparse scalp and body hair – hair is thin, light, and grows slowly; eyebrows/eyelashes may be scant. NCBI

4. Missing teeth (hypodontia/anodontia) – fewer baby and adult teeth; teeth that do erupt are often cone-shaped or small. PMC+1

5. Delayed tooth eruption – teeth come in late, which affects chewing and speech in early childhood. PMC

6. Dry skin – reduced oil and sweat make the skin rough, scaly, and itchy. NCBI

7. Frequent skin infections or rashes – cracked dry skin can get infected more easily. NCBI

8. Characteristic facial features – frontal bossing, depressed nasal bridge, thin lips, and periorbital darkening (dark circles). Frontiers

9. Nail changes – nails may be thin, brittle, or grow slowly. (Ectodermal involvement is variable.) orpha.net

10. Eye symptoms – dry eyes or recurrent irritation because oil glands of the eyelids may be reduced. (Common across EDs.) PMC

11. Nasal/sinus problems – dry nose, crusting, or frequent infections; sinuses may be under-developed. (Reported in ED cohorts.) PMC

12. Earwax problems and ear infections – thick or dry wax; occasional otitis due to altered gland function. (Described across ED reviews.) PMC

13. Respiratory dryness – dry airway secretions can predispose to cough or infections. (General ED feature.) NCBI

14. Feeding and speech difficulties – missing teeth and dry mouth affect chewing, nutrition, and articulation; often improves with dental care. PMC

15. Psychosocial impact – visible differences in hair/teeth and overheating limits may affect confidence and daily activities; family support and early dental treatment help. (Consistently emphasized in clinical reviews.) PMC

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Diagnostic tests

A) Physical examination

1. Skin and hair exam – doctor looks for dry skin, sparse hair, reduced eyebrows/eyelashes, and signs of scratching or infection. This quick bedside check raises early suspicion when overheating is reported. NCBI

2. Dental exam – counting erupted teeth and noting cone-shaped incisors; very helpful in toddlers when teeth should be present but are few or absent. PMC

3. Nails and glands check – brittle nails and reduced skin oil/sweat suggest ectodermal involvement. orpha.net

4. Facial features assessment – the pattern of frontal bossing, depressed nasal bridge, and periorbital darkening supports ED. Frontiers

5. Temperature/overheating history – targeted questions about heat intolerance, fevers, and hot-weather behavior (seeking cool floors, avoiding play outside). This history is often the first “test.” NCBI

B) Manual/office tests

6. Minor’s starch-iodine sweat test – iodine and starch are applied to the skin; areas that sweat turn dark. In ARHED, color change is reduced or absent, mapping sweat loss. (Classic bedside test used across HED.) NCBI

7. Thermoregulatory sweat test (TST) – whole-body assessment in a warm room; shows how much and where the body sweats. Helpful to document anhidrosis objectively. (Standard in dysautonomia/ED centers.) NCBI

8. Dental charting and models – impressions or digital scans to plan dentures, partials, or implants; also documents delayed eruption. PMC

9. Trichoscopy/dermoscopy – magnified look at hair shafts and scalp openings; shows reduced follicles and miniaturized hairs consistent with ED. (Described in ED evaluations.) NCBI

10. Dry-eye/tear tests (Schirmer/tear breakup time) – simple strips and slit-lamp checks to confirm reduced tears causing eye irritation. (Common supportive tests in ED care.) PMC

C) Laboratory & pathological tests

11. Genetic testing panel for HED – sequencing EDAR, EDARADD, WNT10A (and sometimes EDA to exclude XLHED) is the gold standard to confirm ARHED and identify the exact gene. Finding two pathogenic variants fits autosomal recessive inheritance. NCBI+2MedlinePlus+2

12. Deletion/duplication analysis – looks for larger missing or extra pieces of these genes if sequencing is negative. Europe PMC

13. Exome/genome sequencing – used when targeted tests are negative to find rare or novel variants or pathway genes. (Recommended in GeneReviews when first-line testing is unrevealing.) Europe PMC

14. Skin biopsy with sweat-gland count – pathology can show reduced or absent eccrine glands, supporting the diagnosis when genetic testing isn’t available. NCBI

15. Hair-shaft microscopy – documents hair thinning and structural changes typical of ectodermal disorders. (Supportive, not diagnostic alone.) NCBI

16. Salivary flow testing – measures mouth dryness (hyposalivation) contributing to dental caries and infections; supports need for saliva substitutes/fluoride. PMC

D) Electrodiagnostic/autonomic tests

17. QSART (quantitative sudomotor axon reflex test) – measures sweat output from small skin areas using mild stimulation; shows decreased or absent sweating in ARHED. (Used widely for sudomotor assessment.) NCBI

18. Sympathetic skin response (SSR) – records skin electrical changes with stimuli; in ARHED, responses related to sweating may be reduced, supporting anhidrosis. (Adjunctive in sweat-function labs.) NCBI

E) Imaging tests

19. Panoramic dental X-ray (OPG) – shows missing teeth, tooth buds that never formed, and jaw development; guides dental planning. PMC

20. Cone-beam CT (CBCT) / craniofacial CT – provides 3D detail for implant planning and shows under-developed sinuses sometimes seen in ED. (Used by dental teams in ED.) PMC

Non-pharmacological treatments

1. Heat-smart daily plan. Keep living spaces cool, use air-conditioning, schedule outdoor time in early morning/evening, and rest often. This prevents dangerous rises in core temperature by reducing heat exposure when sweat is absent. PMC

2. Cooling wearables. Use cooling vests, neck wraps, and misting fans in hot weather or during activity. These remove heat by evaporation and conduction from skin since sweating is limited. PMC

3. Aggressive hydration. Offer frequent cool fluids (water; oral rehydration when sweating or fever). Hydration supports blood flow for heat loss and prevents cramps, confusion, and fainting. PMC

4. Fever action plan. Caregivers should learn early signs (flushed skin, irritability, hot to touch) and start rapid external cooling (cool room, tepid sponging, fans) and fluids, then seek urgent care if no quick improvement. The plan lowers core temperature before heat injury occurs. NCBI+1

5. Sun and heat-safe clothing. Wear light-colored, loose, breathable fabrics and a wide-brim hat; use shade. Loose garments enhance air flow and convective heat loss. PMC

6. Skin barrier routine. Twice-daily gentle bathing with lukewarm water plus bland emollients (petrolatum or ceramide creams) reduces dryness, itching, and cracking by sealing water in the outer skin layer. NCBI

7. Eyelid hygiene and warm compresses. Daily lid wipes and brief warm compresses help unblock meibomian glands to improve the oily layer of the tear film and reduce evaporative dry eye. AAO+1

8. Humidify air. Using a bedroom humidifier and saline sprays reduces nose, throat, and eye dryness by adding moisture to inhaled air. NCBI

9. Punctal occlusion (eye-care procedure). When drops are not enough, tiny plugs in the tear drain holes conserve tears on the eye, improving comfort and surface health. aaojournal.org+1

10. Scleral contact lenses for severe dry eye. Large rigid lenses vault the cornea and hold a liquid reservoir over the eye, providing continuous lubrication and surface protection. PMC+1

11. Early pediatric dental prostheses. Removable partial or complete dentures in childhood restore chewing and speech and guide jaw growth; they are updated as the child grows. nfed.org

12. Orthodontic care. Braces and growth-guidance devices can align jaws and teeth that do form, improving bite and speech prior to definitive prosthetic or implant work. nfed.org

13. Implant-supported teeth (timed to growth). Implants are usually delayed until jaw growth is finished (late teens), though limited early implants in the lower front jaw may be considered in special cases. nfed.org+1

14. Speech and feeding therapy. Therapists help children adapt to oral dryness and missing teeth, improving feeding, weight gain, and clear speech through training and adaptive tools. NCBI

15. Nasal care routine. Daily saline rinses and softening of crusts reduce nosebleeds and infections by rehydrating the nasal lining. NCBI

16. Genetic counseling. Families learn inheritance risks, carrier testing options, and planning for future pregnancies in a supportive, informed way. NCBI

17. School and sports accommodations. Extra water breaks, cooling access, shaded play, and modified PE prevent overheating and allow safe participation. PMC

18. Skin infection prevention. Short nails, gentle cleansers, moisturizers, and quick care of cracks lower the risk of bacterial entry and cellulitis. NCBI

19. Eye protection. Wraparound sunglasses and hats reduce wind and sun that increase tear evaporation and irritation. AAO

20. Psychosocial support. Peer groups and counseling help with self-image and social stress linked to visible features and frequent care needs. Advocacy organizations (e.g., NFED) provide resources and expert referrals. NCBI

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Drug treatments

Notes: (a) Doses below are examples from FDA labels for the approved indication; clinicians adjust by age, weight, and condition. (b) In AR-HED these medicines are typically used to treat symptoms (dry eye, eczema, infections, fever) rather than the genetic cause. (c) Always review each label and your local guidelines.

1. Cyclosporine ophthalmic 0.05% (RESTASIS/RESTASIS Multidose).
   Class: Topical calcineurin inhibitor. Dose/Time: 1 drop in each eye BID (~12 h apart). Purpose: Increase tear production in inflammatory dry eye. Mechanism: Reduces T-cell–driven ocular surface inflammation, improving lacrimal function. Side effects: Ocular burning, irritation; avoid contact lenses during dosing. (Approved for dry eye; used in AR-HED dry eye). FDA Access Data+1

2. Cyclosporine ophthalmic 0.1% (VEVYE).
   Class: Topical calcineurin inhibitor. Dose/Time: 1 drop BID. Purpose/Mechanism: Same class; higher concentration option for signs and symptoms of dry eye. Side effects: Instillation site pain/irritation. (Approved for dry eye). FDA Access Data

3. Lifitegrast ophthalmic 5% (XIIDRA).
   Class: LFA-1 antagonist. Dose/Time: 1 drop BID. Purpose: Reduce signs/symptoms of dry eye. Mechanism: Blocks LFA-1/ICAM-1 interaction, decreasing ocular surface inflammation. Side effects: Dysgeusia, eye irritation. (Approved for dry eye). FDA Access Data+1

4. Hydrocortisone topical (1–2.5%).
   Class: Low-potency corticosteroid. Dose/Time: Thin layer 1–2× daily short term for flares. Purpose: Calm eczematous skin. Mechanism: Anti-inflammatory via glucocorticoid receptors. Side effects: Skin atrophy with prolonged use; avoid on infected skin. (Label examples). FDA Access Data+1

5. Triamcinolone acetonide topical 0.1%.
   Class: Mid-potency corticosteroid. Dose/Time: Thin layer 1–2× daily short term on thicker plaques. Purpose/Mechanism: Stronger anti-inflammatory for dermatitis flares. Side effects: Atrophy/striae with chronic use. FDA Access Data+1

6. Tacrolimus ointment 0.03%/0.1% (PROTOPIC).
   Class: Topical calcineurin inhibitor. Dose/Time: Thin layer BID for eczema; 0.03% age ≥2; 0.1% ≥16. Purpose: Steroid-sparing control of atopic dermatitis common in HED. Mechanism: Blocks calcineurin to reduce T-cell activation. Side effects: Local burning, rare infection reactivation; boxed warning regarding possible cancer risk—use as directed. FDA Access Data+1

7. Pimecrolimus cream 1% (ELIDEL).
   Class: Topical calcineurin inhibitor. Dose/Time: Thin layer BID; stop when clear. Purpose/Mechanism: Steroid-sparing option for mild-to-moderate AD. Side effects: Local burning; avoid on infected skin. FDA Access Data+1

8. Cetirizine oral (ZYRTEC).
   Class: H1 antihistamine. Dose/Time: Children/adults per label once daily. Purpose: Itch relief in eczema/allergies that worsen barrier injury. Mechanism: H1 receptor blockade. Side effects: Drowsiness in some users. FDA Access Data

9. Acetaminophen (paracetamol).
   Class: Analgesic/antipyretic. Dose/Time: Weight-based; refer to label (IV and oral labels available). Purpose: Fever control during heat stress or infections. Mechanism: Central COX inhibition to lower set-point fever. Side effects: Hepatotoxicity in overdose; check total daily dose. FDA Access Data

10. Ibuprofen (children’s formulations).
    Class: NSAID. Dose/Time: Weight-based every 6–8 h per label. Purpose: Fever/pain relief. Mechanism: COX-1/2 inhibition decreasing prostaglandins. Side effects: GI upset; avoid dehydration. FDA Access Data

11. Amoxicillin (AMOXIL).
    Class: Aminopenicillin antibiotic. Dose/Time: Per label and local guidelines. Purpose: Treat skin/airway bacterial infections that can follow barrier dryness. Mechanism: Inhibits bacterial cell wall synthesis. Side effects: Rash, diarrhea. Use only when infection is likely/confirmed. FDA Access Data

12. Amoxicillin-clavulanate (AUGMENTIN).
    Class: β-lactam + β-lactamase inhibitor. Dose/Time: Per label; take with food. Purpose: Broader coverage for sinusitis/skin infections if indicated. Mechanism: Cell wall inhibition plus β-lactamase blockade. Side effects: GI upset, candidiasis. FDA Access Data

13. Mupirocin ointment/cream (BACTROBAN).
    Class: Topical antibiotic. Dose/Time: 2–3× daily for limited days. Purpose: Treat localized impetigo/skin infection at cracks. Mechanism: Inhibits isoleucyl-tRNA synthetase. Side effects: Local irritation; avoid prolonged use. FDA Access Data+1

14. Ofloxacin ophthalmic 0.3% (OCUFLOX).
    Class: Fluoroquinolone eye antibiotic. Dose/Time: Per label for conjunctivitis/keratitis. Purpose: Treat bacterial eye infections that are more likely with dry eye. Mechanism: Inhibits DNA gyrase/topoisomerase. Side effects: Local irritation. Use only for bacterial infection. FDA Access Data

15. Erythromycin ophthalmic ointment.
    Class: Macrolide antibiotic. Dose/Time: Per label. Purpose: Nighttime lubrication plus antibacterial coverage for blepharitis/conjunctivitis. Mechanism: Inhibits protein synthesis. Side effects: Blurry vision post-application. DailyMed

16. Hydrocortisone/acetic acid otic (if recurrent otitis externa).
    Class: Topical steroid/acidifying ear drops. Dose/Time: Per label. Purpose: Treat inflamed, dry ear canals prone to infection. Mechanism: Lowers pH, reduces swelling. Side effects: Stinging. (Representative FDA ear-drop labels may vary; clinician discretion required.) FDA Access Data

17. Saliva-stimulating agents — Pilocarpine (SALAGEN).
    Class: Muscarinic agonist. Dose/Time: Per label (approved for xerostomia in Sjögren’s/radiation). Purpose (off-label in HED): Increase saliva if residual function exists. Mechanism: M3 stimulation of salivary glands. Side effects: Sweating, flushing, GI upset—caution given heat-intolerance. MedlinePlus

18. Cevimeline (EVOXAC).
    Class: Muscarinic agonist. Dose/Time: Per label for Sjögren’s xerostomia. Purpose (off-label in HED): Symptomatic saliva increase. Mechanism: M3 selective agonism. Side effects: Sweating, nausea; weigh risks in hypohidrosis. orpha.net

19. Nasal saline sprays/irrigations.
    Class: Medical device/OTC solution. Dose/Time: As needed daily. Purpose: Moisten nasal lining and remove crusts in dry airway. Mechanism: Mechanical lavage and humidification. (OTC; follow product labeling.) NCBI

20. Short courses of medium-potency topical steroids for dermatitis flares (e.g., triamcinolone as above) alternating with calcineurin inhibitors for maintenance to limit steroid exposure. This step-up/step-down pattern controls inflammation while protecting thin skin from steroid damage. (See individual labels above for dosing/risks.) FDA Access Data+1

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Dietary molecular supplements

1. Omega-3 fatty acids (fish oil). Some people report symptom relief in dry eye, but a large randomized trial did not show benefit over placebo. Use only if your clinician agrees. Typical doses 1–3 g/day EPA+DHA. Possible GI upset and bleeding risk at high doses. AAP Publications

2. Vitamin D (repletion if low). Correcting deficiency may help skin barrier and immune balance; dose per blood levels and guidelines. Avoid excess. NCBI

3. Biotin (only if deficient). Supports hair/nail keratin; true deficiency is uncommon—high doses can skew lab tests (e.g., thyroid, troponin). Keep doses modest and supervised. NCBI

4. Vitamin A (safe dietary intake). Crucial for epithelial health and tear film; avoid high-dose supplements due to toxicity—prefer food sources. NCBI

5. Zinc (if deficient). Aids wound healing and immunity; excess causes copper deficiency—use short courses under supervision. NCBI

6. Probiotics (selected strains). May help eczema in some children; product quality varies; discuss strain/dose with clinician. NCBI

7. Evening primrose oil (GLA). Mixed evidence for eczema itch; try limited trial if clinician approves; watch for GI upset. NCBI

8. Hyaluronic acid (oral or eye drops). Eye drops are standard; oral forms have limited data—eye drops remain primary route. AAO

9. Antioxidant-rich diet (fruits/vegetables). Supports overall epithelial and immune health; focus on whole foods rather than pills. NCBI

10. Fluoride exposure (dietary when water is low). Not a “supplement” in the usual sense of capsules, but important: when community water is low in fluoride, clinicians may prescribe fluoride to prevent cavities in high-risk children; dosing follows age and water levels. uspreventiveservicestaskforce.org+1

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Immunity booster / regenerative / stem cell drugs

There are no FDA-approved “immunity booster,” regenerative, or stem cell drugs for AR-HED. The FDA warns that many stem-cell products advertised to families are unapproved and potentially unsafe. Do not seek stem cell infusions outside regulated trials. Discuss vaccines, nutrition, and infection prevention with your care team instead.

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Surgeries/procedures

1. Dental implant placement (usually after growth). Replaces missing teeth with osseointegrated titanium posts to support fixed teeth, improving chewing and speech; timing protects results from jaw growth changes. prosthodontics.org+1

2. Bone grafting/ridge augmentation for implants. Adds bone where tooth buds never formed, creating a stable base for implants and prosthetics. prosthodontics.org

3. Punctal plug insertion (office procedure). Blocks tear drainage to keep more tears on the eye; used when drops alone are not enough. AAO+1

4. Thermal cautery of puncta (selected severe cases). Permanently closes the tear drains when plugs repeatedly fall out and severe dryness persists. FishmanVision

5. Prosthodontic reconstruction (comprehensive). Staged dentures/partials in childhood, then implant-supported fixed restorations in adulthood for function, growth guidance, and quality of life. nfed.org+1

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Preventions

1. Avoid overheating: plan cool environments and shaded travel. PMC

2. Hydrate before/during activity; bring a water bottle everywhere. PMC

3. Use cooling gear during sports or heat waves. PMC

4. Daily skin moisturizers to prevent cracks and infections. NCBI

5. Eye protection and lubricants to prevent abrasions/infections. AAO

6. Nasal saline/humidifier to reduce crusts and infections. NCBI

7. Early dental home by first tooth/first birthday; fluoride as indicated. uspreventiveservicestaskforce.org

8. Vaccinations on schedule to lower infection risk. NCBI

9. Written heat-illness plan for school/caregivers. PMC

10. Regular specialist follow-up (derm, dental, ophthalmology, genetics). NCBI

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When to see a doctor

Immediately (emergency): Hot, dry skin with confusion, fainting, severe headache, vomiting, or temperature that is not dropping despite active cooling—this can be heat stroke. Call emergency services. PMC

Urgently: Fever not responding to home cooling/fluids, signs of dehydration (no urine, sleepiness), spreading skin redness or pus, eye pain/light sensitivity with vision changes, or mouth sores that prevent drinking. NCBI

Routine: New or worsening eczema, persistent dry eye symptoms despite drops, dental problems, or questions about school/sports plans; schedule regular visits with dermatology, ophthalmology, dentistry/prosthodontics, and genetics. NCBI

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What to eat and what to avoid

What to eat: Water as the main drink; fruits/vegetables for vitamins A and C; lean proteins and healthy fats to support skin repair; soups/stews and moist foods if dry mouth makes chewing hard; sugar-free xylitol gum or lozenges to stimulate saliva (if safe for age). These choices support barrier tissues and hydration. NCBI

What to avoid (or limit): Very hot spicy foods if they trigger flushing; acidic or very dry, crumbly foods if mouth is dry and unprotected; sugary snacks and drinks that raise cavity risk; alcohol mouthwashes that sting and dry. These steps lower irritation and dental decay risk. AAPD

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Frequently asked questions

1. Is AR-HED the same as “hypohidrotic” ED? Yes—“anhidrotic/hypohidrotic” describes very little or no sweating. “Autosomal recessive” refers to the inheritance pattern. NCBI

2. Which genes cause AR-HED? Most often EDAR, EDARADD, or WNT10A (biallelic variants). NCBI

3. Why are teeth missing? The same pathway that forms sweat glands also guides tooth buds; when signaling is weak, many teeth never form or are cone-shaped. NCBI

4. Can overheating be prevented? Yes—cool spaces, hydration, cooling gear, and a rapid cooling plan work very well. PMC

5. Will my child need dentures or implants? Many children start with removable prostheses; implants are typically placed after growth is complete. nfed.org+1

6. What about a cure? Supportive care is standard today. Experimental newborn protein therapy (Fc-EDA) has shown promise but is not standard or approved. nfed.org

7. Are stem cell treatments available? No—FDA warns against unapproved stem-cell products; avoid clinics offering them.

8. How do we manage dry eye? Start with lubricants and eyelid hygiene; consider cyclosporine or lifitegrast; add punctal plugs or scleral lenses for severe cases. PMC+3FDA Access Data+3FDA Access Data+3

9. Is eczema common? Yes; gentle skincare, moisturizers, and targeted medicines (topical steroids or calcineurin inhibitors) help. FDA Access Data+1

10. Are antihistamines useful? They can reduce itch and scratching that worsens eczema, but they do not treat the cause; use as needed. FDA Access Data

11. Do we need special dental fluoride? Children at risk should receive fluoride varnish and, when water is low in fluoride, clinician-guided supplements. uspreventiveservicestaskforce.org+1

12. Are infections more likely? Dry, cracked skin and mucosa can raise risk; prompt skin/eye/dental care and antibiotics when indicated reduce complications. NCBI

13. Can kids play sports? Yes—with heat precautions: cool environment, hydration, rest breaks, and a quick-cool plan. PMC

14. What specialists should we see? Dermatology, dentistry/prosthodontics, ophthalmology, ENT (as needed), and genetics; start early and review yearly. NCBI

15. Where can families find support? The National Foundation for Ectodermal Dysplasias (NFED) offers education, dentists familiar with HED, and peer support. NCBI

Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical  history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.

The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members

Last Updated: October 07, 2025.

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