Aplasia of the Lacrimal and Salivary Glands

Aplasia of the lacrimal and salivary glands means that the tear glands and saliva glands did not grow properly before birth. They are partly formed, very small, or completely missing. Because of this, the eyes do not make enough tears and the mouth does not make enough saliva. This causes very dry eyes (like dry eye disease) and very dry mouth (called xerostomia). It is a rare condition and is often found in children when they start to have eye irritation and many dental problems. [1]

Aplasia of the lacrimal and salivary glands is a rare birth condition where the tear glands (lacrimal glands) and one or more major salivary glands do not form properly or are completely absent. This causes lifelong dry eyes (no or very few tears) and dry mouth (very little saliva). People can have burning eyes, eye infections, trouble eating dry food, dental decay, and oral infections. It is often linked to changes in a gene called FGF10 and may overlap with LADD (lacrimo-auriculo-dento-digital) syndrome. [1]

Other names

Doctors may use different names for this problem. Some other names are:

• “Lacrimal and salivary gland aplasia”

• “Congenital agenesis of lacrimal and salivary glands”

• “Congenital absence of major salivary glands with alacrima (no tears)”

• “Salivary gland aplasia with absence of lacrimal puncta”

• When part of a syndrome: “Lacrimo-auriculo-dento-digital (LADD) syndrome” or other ectodermal dysplasia syndromes. [2]

In simple words, all these names mean that the child was born with missing or very under-developed glands that should make tears and saliva.

Types

Doctors can describe different “types” based on which glands are missing and how:

1. Isolated lacrimal gland aplasia – only the tear glands are missing or very small, but the saliva glands are normal. [3]

2. Isolated salivary gland aplasia – one or more major saliva glands (parotid, submandibular, sublingual) are missing, but the tear glands are normal. [4]

3. Combined lacrimal and salivary gland aplasia – both tear glands and some or all major salivary glands are absent, so eyes and mouth are both very dry. [5]

4. Unilateral aplasia – glands are missing only on one side of the face (right or left), so symptoms may be worse on that side. [6]

5. Bilateral aplasia – glands are missing on both sides of the face, so dryness is usually severe in both eyes and the whole mouth. [7]

6. Syndromic aplasia – the gland aplasia is part of a bigger genetic syndrome, such as LADD syndrome, Down syndrome with gland aplasia, or other ectodermal dysplasia conditions. [8]

7. Non-syndromic aplasia – the glands are absent but the child does not have other clear birth defects or syndromes. [9]

In all types, the key problem is the same: the body cannot produce enough tears and saliva to keep the eyes and mouth healthy.

Causes

Aplasia is usually a development problem before birth, not something the person did. Many times the exact cause is unknown, but doctors know several possible reasons.

1. Genetic mutations in gland-growth genes – Changes in genes that control growth of glands (for example FGF10 or FGFR2 in LADD syndrome) can stop lacrimal and salivary buds from forming, so the glands never develop. [10]

2. Autosomal dominant inheritance – In some families, the condition is passed from parent to child in an autosomal dominant way. One changed copy of the gene is enough to cause absent glands, and different family members can be affected with different severity. [11]

3. Part of LADD (lacrimo-auriculo-dento-digital) syndrome – In this syndrome, the lacrimal and salivary systems are often missing or blocked, together with ear, teeth, and finger abnormalities. [12]

4. Other ectodermal dysplasias – The skin, hair, nails, teeth, and glands all come from the same embryonic layer (ectoderm). Disorders of this layer can affect tear and saliva glands, leading to aplasia or severe hypoplasia. [13]

5. Down syndrome associations – Some reports describe missing or under-developed major salivary glands in children with Down syndrome, likely related to broader developmental changes in the craniofacial region. [14]

6. Triple A (Allgrove) and other autonomic syndromes – Conditions like triple A (achalasia, alacrima, adrenal insufficiency) show poor tear production from very small or dysfunctional glands, sometimes with structural defects. [15]

7. Non-syndromic isolated developmental error – Many cases have no known family history or syndrome. Doctors think a random error during early face development stopped the glands from forming. [16]

8. Disturbed blood supply during early pregnancy – If the tiny blood vessels that feed developing glands are damaged very early, the buds may not grow, leading to agenesis. This is mainly a theory based on how other malformations occur. [17]

9. Maternal infections in early pregnancy – Some severe infections in the first trimester can damage forming facial structures and glands. This is not proven for every case, but is a possible contributing factor. [18]

10. Maternal exposure to certain medicines – Strong drugs that affect cell division or blood vessels in early pregnancy (for example some cancer drugs or high-dose retinoids) may increase the risk of congenital gland malformations, although this is rare. [19]

11. Maternal alcohol abuse – Heavy alcohol use during early pregnancy can disturb craniofacial development. In some reports, children with multiple facial anomalies also have gland aplasia. [20]

12. Maternal poorly controlled diabetes – High blood sugar around the time organs form can increase the risk of several birth defects, possibly including gland malformations. [21]

13. Chromosomal abnormalities other than Down syndrome – Extra or missing chromosome parts can change the way face and glands develop. These cases are often part of complex syndromes with many features. [22]

14. Local tissue fusion problems – As the face forms, little folds of tissue must fuse and grow in a very exact way. If this process is disturbed, the ducts and gland buds of tear and saliva systems may not appear. [23]

15. Radiation exposure in early pregnancy – Strong radiation can damage dividing cells. Very high doses at crucial times might affect forming glands, although this would be extremely rare and usually part of broader damage. [24]

16. Unknown environmental teratogens – There may be other chemicals in the environment that disturb development of glands, but these are not yet clearly proven in studies because the condition is so rare. [25]

17. Shared ectodermal defect for eye and mouth glands – Because tear and saliva glands are “sister” structures from the same embryonic tissue, any broad defect of this tissue can affect both at the same time. [26]

18. Developmental arrest at early bud stage – Sometimes the glands start to form but stop very early. Imaging may show tiny rests or complete absence. This “arrest” can happen for genetic or unknown reasons. [27]

19. Associated craniofacial malformations – Clefts, ear anomalies, or jaw malformations can occur with gland aplasia, suggesting that a common early patterning problem affected many nearby structures. [28]

20. Truly idiopathic cause – In some children, no genetic, family, or environmental cause can be found even after careful testing. Doctors then call it idiopathic (cause unknown). [29]

Symptoms

Because tears and saliva protect and lubricate the eye and mouth, the main symptoms are dry eye and dry mouth problems.

1. Burning or stinging in the eyes – The eyes feel hot, burning, or like they are “on fire,” especially in wind, air-conditioning, or when reading or using screens for a long time. [30]

2. Gritty or sandy feeling in the eyes – People often say it feels like sand or dust is stuck in the eye all the time. This is called foreign-body sensation and comes from a rough, dry eye surface. [31]

3. Red, inflamed eyes – The white part of the eye can look red and irritated because the surface stays dry and inflamed for long periods. [32]

4. Sensitivity to light (photophobia) – Bright sunlight, car headlights, and screens may hurt the eyes or cause squinting because the dry surface makes light more painful. [33]

5. Blurred or fluctuating vision – Vision can come and go, becoming blurry when the eye surface dries out and clearing for a short time after blinking or using artificial tears. [34]

6. Reflex watery eyes – Paradoxically, very dry eyes can produce sudden streams of tears. These are “reflex tears,” not the normal steady lubrication tears, and they do not solve the dryness. [35]

7. Frequent eye infections – Lacking normal tears makes it easier for bacteria and viruses to infect the eye, causing conjunctivitis or even corneal problems if not treated. [36]

8. Mouth feeling very dry and sticky – People feel they need to sip water all the time. The tongue may stick to the roof of the mouth, especially at night, because saliva is almost absent. [37]

9. Difficulty chewing and swallowing dry food – Bread, crackers, and meat may be hard to chew and swallow, because saliva is needed to soften food and help it slide down the throat. [38]

10. Trouble speaking for long periods – Talking for a long time without water becomes hard, as the mouth dries, the tongue sticks, and speech becomes hoarse or unclear. [39]

11. Bad breath (halitosis) – Without saliva to wash the mouth, food particles stay in place, bacteria grow more easily, and this leads to persistent bad breath. [40]

12. Many dental caries (tooth decay) – Xerostomia from salivary gland aplasia often causes rampant tooth decay in young children, sometimes affecting almost every tooth, because saliva normally protects teeth against acid and bacteria. [41]

13. Fungal and other mouth infections – Dry mouth makes it easy for yeast (Candida) and other germs to grow, causing white patches, burning, and soreness in the mouth. [42]

14. Cracked lips and mouth sores – The lips may become dry, cracked, and painful, and the lining inside the mouth can develop ulcers or fissures from constant dryness and friction. [43]

15. Reduced or altered taste – People often say food “has no taste” or tastes different, because saliva is important for dissolving food molecules and carrying them to taste buds. [44]

Not every person will have all these symptoms, but most will have several eye and mouth problems together.

Diagnostic tests – overview

Doctors use several groups of tests to confirm that the glands are abnormal and to rule out other causes of dryness, such as autoimmune diseases where glands are present but damaged. Tests are usually grouped as physical exam, manual tests, laboratory and pathological tests, electrodiagnostic tests, and imaging tests. [45]

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Physical examination tests

1. Comprehensive eye examination

An eye doctor (ophthalmologist) carefully looks at the eyelids, eyelashes, and the front of the eye with a light and sometimes a slit lamp microscope. They check for redness, tiny breaks on the cornea, mucous strands, and poor tear film. This exam helps show that the surface looks like dry eye and that there is little or no tear fluid in the normal places. [46]

2. Comprehensive oral examination

A dentist or oral medicine doctor looks inside the mouth for dryness, lack of saliva pooling under the tongue, sticky mucosa, dental caries, gum disease, and fungal infections. They may gently touch the mucosa and tongue with a cotton swab to see how dry it feels. In salivary aplasia, the mouth often looks unusually dry even when the person has just drunk water. [47]

3. Facial palpation of salivary glands

The doctor gently feels (palpates) the areas in front of the ears (parotid glands), under the jaw (submandibular glands), and under the tongue (sublingual glands). In aplasia, there may be no normal gland fullness to feel. Sometimes nearby tissues may be slightly enlarged to compensate. This simple bedside check gives an early clue that the glands are smaller or missing. [48]

4. General hydration and skin/mucosa exam

The doctor also checks the skin, lips, and inside of the nose for signs of dryness, and may look for other physical signs of syndromes such as abnormal ears, fingers, teeth, or facial shape. These clues help decide whether the gland aplasia is part of a wider congenital syndrome or an isolated finding. [49]

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Manual tests

5. Schirmer tear test

In this simple test, a small strip of filter paper is placed inside the lower eyelid of each eye. The paper soaks up tears for 5 minutes. The doctor then measures how many millimetres of the strip became wet. In people with lacrimal gland aplasia, the strips often show almost no wetting, indicating extremely low tear production. [50]

6. Tear break-up time (TBUT)

A drop of dye (such as fluorescein) is placed on the eye, and the person is asked not to blink. Using a cobalt blue light, the doctor watches how long it takes for dry spots to appear on the cornea. In normal eyes, the tear film stays smooth for at least 10 seconds. In people with very poor tear production, the tear film “breaks up” very quickly, often in just a few seconds. [51]

7. Fluorescein corneal staining

Fluorescein dye highlights damaged areas on the cornea. After the dye is placed, the doctor looks with a blue light. In dry eye from gland aplasia, the cornea often shows many small bright spots where the surface is injured from long-standing dryness. The pattern and severity of staining help grade how serious the damage is. [52]

8. Unstimulated and stimulated sialometry

Sialometry measures how much saliva the mouth produces. For unstimulated sialometry, the person lets saliva drip into a cup for a set time (for example, 5 minutes) without chewing or tasting anything. For stimulated sialometry, they chew something like paraffin wax or taste citric acid and spit into a container. In salivary gland aplasia, these tests often show almost zero saliva even with stimulation. [53]

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Laboratory and pathological tests

9. Autoimmune antibody panel

Blood tests such as ANA, anti-SSA (Ro), and anti-SSB (La) help detect Sjögren’s syndrome and other autoimmune diseases that can also cause dry eye and dry mouth. In gland aplasia, these antibodies are usually negative, which tells the doctor that the dryness is not due to an immune attack on present glands, but to missing glands. This helps separate aplasia from common autoimmune causes. [54]

10. Basic blood tests (CBC, ESR, CRP)

A full blood count and inflammation markers like ESR and CRP help check for infection, anaemia, or systemic inflammation. These tests are usually normal in pure gland aplasia, but they are important to rule out other diseases that might mimic or worsen dryness symptoms. [55]

11. Metabolic and endocrine panel

Tests for blood sugar (glucose, HbA1c), thyroid hormones, and other endocrine values look for diabetes or thyroid disease, which can also cause dry eye and dry mouth. If these tests are normal, they support the idea that a structural gland problem, not a metabolic disease, is the main cause. [56]

12. Genetic testing for related syndromes

If the child has other anomalies (ear shape, teeth problems, finger changes, growth delay), genetic testing may be done. This can look for gene changes known in LADD syndrome or other ectodermal dysplasias. A positive genetic test confirms that gland aplasia is part of a specific syndrome, which also helps with family counselling and risk for future children. [57]

13. Minor salivary gland biopsy

If some minor salivary glands (such as small glands in the lip) are present, a tiny piece can be taken under local anaesthetic and examined under the microscope. In aplasia of major glands, minor glands may be normal, small, or reduced in number. Biopsy can help rule out autoimmune damage (as in Sjögren’s), where there are many immune cells attacking the glands instead of complete absence. [58]

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Electrodiagnostic tests

14. Nerve conduction studies

Sometimes, especially when alacrima (no tears) is part of a wider neurological or autonomic disorder, nerve conduction tests and EMG (electromyography) are done. These measure how fast electrical signals travel in nerves and muscles. Normal results suggest that the dryness comes mainly from missing glands, not from major nerve damage. Abnormal results may point to broader nerve problems that also affect gland function. [59]

15. Autonomic function testing

The autonomic nervous system controls tear and saliva production. Tests such as tilt-table testing, heart-rate variability, blood pressure changes, and sweat response (QSART) help check if this system is working properly. In some syndromes with alacrima and asialia, autonomic tests can be abnormal, showing that both glands and their nerve control are affected. [60]

16. Blink reflex testing

The blink reflex is tested by gently stimulating the cornea or trigeminal nerve and measuring muscle responses around the eye with EMG. Dry eye and corneal damage from gland aplasia may change the blink reflex pattern. This test is not done in every patient but can help in complex neurological cases. [61]

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Imaging tests

17. Orbital ultrasound, CT, or MRI for lacrimal glands

Imaging of the eye sockets (orbits) is very important. Ultrasound, CT, or MRI can show whether the lacrimal glands are present, small, or completely absent. In lacrimal gland aplasia, imaging shows no normal gland tissue in the usual location. MRI is especially good at showing soft tissue detail and confirming agenesis. [62]

18. Salivary gland ultrasound

Ultrasound of the parotid and submandibular areas is a simple, non-invasive way to look for salivary glands. The sonographer moves a probe over the skin, and the glands normally appear as soft, oval structures. In aplasia, these structures cannot be seen, or they are very small and abnormal. Ultrasound can also help rule out other problems like stones or tumours. [63]

19. CT or MRI of salivary glands and nearby structures

CT and MRI scans give detailed pictures of the salivary gland regions and the jaws, teeth, and surrounding bones. They help confirm that the glands are missing and not just shrunken by chronic disease. They also look for any compensatory enlargement of smaller glands or other facial anomalies that may be part of a syndrome. [64]

20. Sialography or MR sialography

In sialography, a contrast dye is gently injected into the salivary duct and X-rays are taken. In MR sialography, special MRI sequences show the ducts without contrast. In salivary gland aplasia, the usual duct system may be very small or absent, because there is no gland to drain. These tests help confirm the structural absence of the salivary system and distinguish aplasia from blockage or scarring. [65]

Non-Pharmacological Treatments (Therapies and Others)

(Supportive care is the “core” of management in this condition. Below are key non-drug strategies. In real life, your specialist will pick and combine only some of them for you.)

1. Frequent Preservative-Free Artificial Tears
These are sterile eye drops that copy natural tears and keep the eye surface wet. You use them many times a day, especially when reading, using screens, or in air-conditioned rooms. They reduce burning, grittiness, and the risk of corneal damage. Preservative-free single-use vials are safer for very frequent use and for sensitive eyes. They are the basic, first-line treatment for congenital dry eye from lacrimal gland aplasia. [3]

2. Lubricating Eye Ointment at Night
Thick eye ointments made from mineral oil or petrolatum stay on the eye surface for many hours. They blur vision, so they are best used at bedtime. At night they protect the cornea from drying, tiny scratches, and recurrent erosions. This is especially important in children who may sleep with their eyes slightly open, which worsens corneal dryness in people with lacrimal gland aplasia. [4]

3. Eyelid Hygiene and Warm Compresses
Warm compresses soften the oily secretions of the eyelid glands. Gentle lid cleaning removes crusts and bacteria. Even when lacrimal glands are absent, keeping the eyelid margin healthy improves the quality of the tear film that still comes from other smaller glands. This can reduce irritation, redness, and risk of blepharitis-related corneal problems. [5]

4. Moist Chamber Goggles and Humidified Environment
Special moisture-chamber goggles or glasses trap humidity around the eyes. Using room humidifiers and avoiding direct air from fans or AC also reduce evaporation. This is very helpful in people whose eyes cannot make tears at all because even small amounts of environmental moisture can protect the cornea from drying and ulceration. [6]

5. Punctal Occlusion (Temporary or Permanent)
When puncta (tear drainage openings) are present, doctors may block them with soft plugs or surgical closure. This prevents the few tears and artificial tears from draining quickly and keeps them longer on the eye surface. In congenital absence of puncta this option may not be possible, but when present, punctal occlusion is a strong supportive measure to reduce symptoms and protect the cornea. [7]

6. Scleral or Prosthetic Replacement of the Ocular Surface (PROSE) Lenses
Large rigid contact lenses (scleral or PROSE devices) hold a reservoir of fluid over the cornea all day. They are very useful in severe dry eye and exposure keratopathy. For some patients with lacrimal gland aplasia, they can greatly reduce pain and photophobia and protect the cornea from ulceration and perforation, but they require expert fitting and very careful hygiene. [8]

7. Protective Eyewear and Sun/ Wind Control
Wraparound sunglasses or side-shield glasses protect the eyes from wind, dust, and bright light. This reduces evaporation, irritation, and risk of foreign-body damage to a fragile cornea. For a child with congenital dry eye, parents are often advised to use protective glasses outdoors regularly. [9]

8. Saliva Substitutes and Oral Moisturizing Gels
For dry mouth from salivary gland aplasia, artificial saliva sprays, gels, and lozenges coat the mouth and throat. They make chewing and talking easier, improve swallowing of dry food, and reduce soreness. Many preparations include carboxymethylcellulose or mucin-like polymers to mimic the slipperiness of natural saliva. Regular use can reduce dental and oral infections linked with xerostomia. [10]

9. Sugar-Free Chewing Gum or Lozenges
When some minor salivary gland function remains, sugar-free gum or xylitol lozenges can stimulate saliva flow. The chewing action plus taste activates reflex secretion. Xylitol also helps prevent dental caries. This is a simple, low-risk, home-based measure that can be used many times a day and teaches children to manage their own symptoms. [11]

10. Intensive Fluoride and Dental Care Programs
Dry mouth strongly increases the risk of tooth decay, gum disease, and oral infections. Dentists may prescribe high-fluoride toothpaste, fluoride varnishes, and regular professional cleanings. Education in gentle brushing, interdental cleaning, and early treatment of caries is essential. In ALSG, such preventive dental programs are a core part of long-term management, not an “extra.” [12]

11. Voice and Swallow Therapy
Speech-language therapists can teach safer swallowing techniques and ways to handle dry, crumbly food. They may suggest texture modification and positioning strategies that make eating less tiring and reduce choking risk. For children with severe xerostomia, this support can improve growth, nutrition, and school participation. [13]

12. Psychological and Educational Support
Living with a visible eye condition and chronic discomfort can affect mood, school performance, and self-image. Counseling, school education plans, and support groups can help children and families cope. Learning that the problem is genetic and not their “fault” often reduces anxiety and improves adherence to complex treatment routines. [14]

(In real-life care, many more simple measures such as sipping water, avoiding tobacco and alcohol, and using room humidifiers are also advised.)

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Drug Treatments

Important safety note: The medicines below are examples used for severe dry eye and dry mouth in general. They are not a self-treatment guide. Dose and choice must be made by your doctor, especially in children.

1. Cyclosporine Ophthalmic Emulsion 0.05% (e.g., RESTASIS/generic)
Cyclosporine eye drops are topical immunomodulators. They reduce inflammation in the eye surface and help increase tear production in patients whose tear production is suppressed by inflammation, such as keratoconjunctivitis sicca. Usual use is one drop in each eye twice daily, about 12 hours apart. Common side effects include burning on instillation and eye redness. In lacrimal gland aplasia, they may help when there is inflammatory damage of remaining accessory glands or ocular surface. [15]

2. Cyclosporine Higher-Strength Formulations (e.g., 0.09% Emulsion)
Newer cyclosporine formulations use higher concentration or different vehicles to improve penetration and comfort. They are also used twice daily for dry eye disease to improve signs and symptoms. Side effects are similar—mainly temporary eye irritation. Because these are prescription products, the ophthalmologist chooses them when standard 0.05% preparations are not enough. [16]

3. Lifitegrast 5% Ophthalmic Solution (Xiidra)
Lifitegrast is a small-molecule drug that blocks LFA-1, reducing immune-cell binding and inflammation on the ocular surface. It is FDA-approved to treat signs and symptoms of dry eye disease, with one drop in each eye every 12 hours. Common side effects are eye irritation, altered taste, and blurred vision. In severe congenital dry eye, it may be considered when inflammation worsens surface damage. [17]

4. Short-Course Topical Corticosteroid Eye Drops
Low-potency steroids such as loteprednol may be used short-term to calm severe ocular surface inflammation or after surgery. They can rapidly relieve redness and pain but carry risks like raised eye pressure and cataract if over-used. Therefore, they are only used under strict ophthalmologist supervision, often together with cyclosporine or lifitegrast to control long-term inflammation. [18]

5. Autologous Serum Eye Drops
These drops are made from the patient’s own blood serum, diluted and processed in a sterile manner. Serum contains growth factors, vitamins, and proteins similar to natural tears. In severe dry eye with persistent epithelial defects, autologous serum can promote corneal healing and reduce pain. It is usually used several times per day in specialized centers. [19]

6. Platelet-Rich Plasma (PRP) or Plasma Rich in Growth Factors Eye Drops
PRP-based eye drops are prepared from the patient’s blood and are rich in growth factors. They may help heal corneal ulcers and improve ocular surface health in very severe dryness. These products are experimental in many countries and are used when conventional treatments fail, always under specialist supervision. [20]

7. Oral Cevimeline (Evoxac)
Cevimeline is a muscarinic agonist that stimulates any remaining salivary tissue to produce more saliva. It is FDA-approved for dry mouth in Sjögren’s syndrome, usually taken three times a day, with dose and timing adjusted by the doctor. Side effects include sweating, nausea, flushing, and possible heart rhythm effects in at-risk patients. In salivary gland aplasia, it is only useful when some gland tissue still exists. [21]

8. Oral Pilocarpine (Salagen and Generics)
Pilocarpine is another muscarinic agonist used to stimulate salivary flow in xerostomia. It is usually taken several times daily with meals. Side effects include sweating, flushing, urinary frequency, and risk of bronchospasm or heart issues in susceptible people. As with cevimeline, usefulness in complete gland aplasia is limited, but it may help in partial agenesis or coexisting autoimmune dryness. [22]

9. High-Fluoride Toothpaste and Varnish Preparations
Prescription fluoride pastes and dentist-applied varnishes are technically “drug” products that strengthen tooth enamel and reduce decay risk in dry-mouth patients. Used once or twice daily at home and periodically in the dental clinic, they are essential for preventing tooth loss in ALSG. Side effects are minimal when used correctly, but swallowing large amounts should be avoided, especially in small children. [23]

10. Topical Antimicrobial Mouth Rinses (e.g., Chlorhexidine)
In some patients with recurrent oral infections, dentists may prescribe antimicrobial mouth rinses. Chlorhexidine reduces bacterial load and helps prevent gingivitis and caries. It is usually used in short courses because long-term use can stain teeth and change taste. In congenital dry mouth, it is an adjunct, not a replacement for fluoride and mechanical cleaning. [24]

(In practice, other medicines like pain relievers, antibiotics, or anti-allergic drugs may be used for specific complications. All should be guided by specialists.)

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Dietary Molecular Supplements

Note: Evidence for supplements in this rare congenital condition is indirect. They support eye and oral surface health in general but do not replace medical care.

1. Omega-3 Fatty Acids (Fish Oil or Algal Oil)
Omega-3 fatty acids may help reduce ocular surface inflammation and improve meibomian gland function in some forms of dry eye. Typical doses in adults are a few hundred to a thousand milligrams of EPA/DHA daily, as advised by a doctor. They work by shifting inflammatory pathways toward less inflammatory mediators. Side effects are usually mild, such as stomach upset or fishy after-taste, but bleeding risk may increase at high doses. [25]

2. Vitamin A
Vitamin A is essential for maintaining healthy corneal and conjunctival epithelium. Oral supplementation is only used when deficiency is diagnosed, because excess vitamin A can be toxic. The function is to support normal mucous production and epithelial differentiation. In some cases, ophthalmologists may also use topical vitamin A ointment at night to aid epithelial healing. [26]

3. Vitamin D
Vitamin D modulates immune responses and bone health. Low vitamin D has been linked with autoimmune dry eye in some studies. In ALSG, adequate vitamin D status supports general immunity and oral health. Doses are tailored to blood levels and age. Mechanistically, vitamin D affects T-cell function and epithelial barrier integrity. [27]

4. Probiotics
Probiotic supplements aim to balance gut microbiota, which may indirectly influence immune function and inflammation. For people with recurrent oral infections or frequent antibiotics, probiotics may help maintain mucosal health. Doses depend on the product (usually billions of CFUs daily). Evidence is still evolving, so they are considered an optional supportive measure. [28]

5. Xylitol-Containing Lozenges
Xylitol is a sugar alcohol that bacteria cannot easily ferment. Lozenges used several times daily reduce dental caries risk and can modestly stimulate saliva. Typical use is one lozenge every few hours while awake. Mechanistically, xylitol reduces oral Streptococcus mutans and supports remineralization when combined with fluoride. [29]

6. Antioxidant-Rich Nutritional Formulas
Some oral formulas provide vitamins C and E, lutein, zeaxanthin, and other antioxidants. These may support ocular surface and retinal health and help limit oxidative stress in tissues already stressed by dryness. Doses follow product labels and medical advice. The mechanism is scavenging free radicals and supporting cellular repair pathways. [30]

7. Calcium and Phosphate Supplements (When Needed)
If diet is restricted or growth is affected, doctors may prescribe calcium and phosphate, sometimes combined with vitamin D. These minerals support bone and tooth mineralization, which is especially important when chronic dry mouth increases caries risk. Doses are tailored to age and blood levels. [31]

8. Zinc
Zinc plays roles in wound healing and immune function. Mild zinc deficiency can worsen taste and appetite, making nutrition harder in people who already struggle with dry mouth. When deficiency is proven, low-dose zinc supplements can support mucosal repair and immune responses. Overuse can cause nausea and interfere with copper metabolism, so medical guidance is needed. [32]

9. B-Complex Vitamins
B vitamins support nerve function and energy metabolism. Deficiency can cause glossitis (inflamed tongue), burning mouth, and neuropathic pain. Correcting deficiencies with B-complex tablets can help with oral comfort and nutritional status. Doses follow standard daily requirements unless a specific deficiency is diagnosed. [33]

10. Oral Rehydration Solutions (ORS) for Dehydration Risk
In children who drink poorly because of oral discomfort, ORS can help maintain fluid and electrolyte balance. They are not drugs in the classic sense but contain balanced salts and glucose to support absorption. Used during illness or hot weather under medical guidance, they help prevent dehydration in patients who cannot rely on normal saliva and thirst cues. [34]

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Immunity-Boosting, Regenerative, and Stem-Cell-Related Therapies

These options are advanced or experimental and never self-managed. They are given only by specialist teams, often in research settings.

1. Autologous Serum Eye Drops as Regenerative Therapy
Beyond simple lubrication, serum drops contain growth factors like epidermal growth factor and fibronectin that support corneal epithelial regeneration. Regular instillation can help heal persistent epithelial defects and reduce scarring, acting like a biologic “regenerative” treatment made from the patient’s own blood. Dosing schedules vary (often many times a day). [35]

2. Platelet-Rich Plasma Eye Drops
PRP eye drops are rich in platelet-derived growth factors. They encourage cell proliferation, migration, and extracellular matrix production on the ocular surface. In refractory severe dry eye, they may reduce pain and promote corneal clarity. Dose and frequency are adjusted by tertiary-care corneal specialists. [36]

3. Cultivated Limbal Epithelial Stem Cell (CLET) Therapies
In eyes with severe corneal damage and limbal stem cell deficiency, surgeons may transplant lab-grown limbal epithelial cells. This is cutting-edge therapy used in selected cases, sometimes when dryness has led to scarring, vascularization, and vision loss. It aims to restore a healthier corneal surface but does not directly fix the lack of tears, so lubrication is still needed. [37]

4. Systemic Immunomodulatory Drugs for Overlapping Autoimmune Disease
If a patient with ALSG also has autoimmune disease that worsens dry eye or dry mouth, drugs like hydroxychloroquine or other systemic immunosuppressants may be used. They modulate overactive immune responses that damage glands and mucosa. Doses, blood-test monitoring, and side-effect management must be handled by rheumatology or immunology specialists. [38]

5. Hematopoietic Stem Cell Transplantation in Complex Syndromic Cases
Very rarely, ALSG may coexist with serious bone marrow or immune disorders where hematopoietic stem cell transplant is done for the underlying disease. While this does not repair lacrimal or salivary aplasia, it can normalize immunity and reduce some infections. This is high-risk, highly specialized treatment, never done solely for dry eye or dry mouth. [39]

6. Future Gene-Targeted Therapies (Research Concept)
Because mutations in FGF10 and related pathways are linked with ALSG and LADD, future gene-based or growth-factor-based therapies may be developed. Today they are still research concepts and not routine care. Families should understand that current treatment remains supportive, while research may bring new options later. [40]

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Surgical Treatments (Procedures and Why They Are Done)

1. Permanent Tarsorrhaphy (Partial Eyelid Closure)
In this surgery, the outer parts of the upper and lower eyelids are partially stitched together, narrowing the eyelid opening. This reduces exposure of the cornea and slows evaporation. It is used in extreme cases where the cornea repeatedly breaks down despite drops, ointments, and scleral lenses. The main goal is preserving the eye and vision, even if appearance changes slightly. [41]

2. Punctal Occlusion Surgery
If punctal plugs are not possible or keep falling out, surgeons can permanently close the tear drainage openings with cautery or sutures. This improves retention of both natural and artificial tears. The procedure is relatively small but has a big impact on tear preservation in patients who still have some tear production or rely heavily on lubricants. [42]

3. Salivary Gland Duct Transposition or Microvascular Transplant
In a few highly specialized centers, surgeons can move or transplant functioning salivary gland tissue (usually a minor gland) into the eye area to supply continuous moisture to the ocular surface. These complex micro-surgical procedures are reserved for severe, treatment-resistant dry eye. The goal is to provide “biologic” lubrication when artificial drops are not enough. [43]

4. Dental Restorative and Reconstructive Surgeries
Advanced tooth decay and tooth loss from chronic dry mouth may require fillings, crowns, implants, or dentures. These procedures restore chewing function, speech, and appearance. In ALSG, dentists aim not only to repair damage but also to design restorations that are easy to clean in a very dry mouth environment. [44]

5. Corneal Transplantation or Keratoprosthesis
If the cornea becomes badly scarred or perforated despite treatment, surgeons may perform corneal transplantation or, in extreme cases, artificial cornea (keratoprosthesis). These high-risk surgeries are done only when vision is severely affected. Long-term lubrication and protection are still essential afterward because the underlying dryness does not go away. [45]

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Prevention and Long-Term Self-Care

1. Avoid eye and mouth dryness triggers such as cigarette smoke, strong wind, and air blowing directly onto the face. [46]

2. Use prescribed eye lubricants and oral moisturizers every day, not only when symptoms are severe. Consistency protects tissues. [47]

3. Maintain excellent dental hygiene, including fluoride toothpaste, flossing/ interdental brushes, and regular professional cleanings. [48]

4. Schedule routine eye exams to detect corneal damage early, even if the child seems comfortable. [49]

5. Drink small sips of water frequently during the day instead of large amounts at once, unless restricted by another condition. [50]

6. Avoid alcohol-based mouthwashes, which can worsen dryness and irritation. [51]

7. Protect eyes outdoors with wraparound glasses to reduce wind and dust exposure. [52]

8. Do not rub the eyes, because this can damage an already fragile corneal surface. Pat gently if they itch and use prescribed drops. [53]

9. Follow all specialist follow-up plans, including dentistry, ophthalmology, and possibly genetics and rheumatology. [54]

10. Educate teachers and caregivers so they understand why the child needs eye drops in class, water bottle access, and frequent dental visits. [55]

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What to Eat and What to Avoid

What to Eat

1. Soft, moist foods like soups, stews, and yogurt to make chewing and swallowing easier. [56]

2. Fresh fruits and cooked vegetables for vitamins and fiber, cut into small pieces to reduce chewing effort. [57]

3. Sugar-free dairy products (if tolerated), such as milk, cheese, and yogurt, to support teeth and bone health. [58]

4. Whole grains like oatmeal and soft whole-grain bread for energy and fiber, served with spreads or sauces to keep them moist. [59]

5. Protein-rich foods (eggs, fish, beans, lentils) prepared with sauces or gravies to make them less dry and easier to swallow. [60]

What to Avoid or Limit

6. Very dry, crumbly foods such as crackers, chips, and dry biscuits that are hard to chew and swallow without saliva. [61]

7. Sugary snacks and drinks, including sweets and sodas, because they quickly cause tooth decay in a dry mouth. [62]

8. Acidic foods and drinks like citrus juices and cola, which can erode tooth enamel and sting dry oral mucosa. [63]

9. Caffeine and energy drinks in large amounts, as they may worsen overall dehydration and can irritate a dry mouth. [64]

10. Alcohol and tobacco, which are very drying and increase risk of oral cancer and gum disease—especially dangerous in people with chronic xerostomia. [65]

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When to See a Doctor

You should see an eye specialist and dentist regularly if you or your child has aplasia of the lacrimal and salivary glands, even when symptoms seem stable. Urgent review is needed if there is sudden vision change, strong eye pain, light sensitivity, a white spot or ulcer on the cornea, or trauma to the eye. You should also see your dentist or doctor quickly for mouth ulcers, signs of infection, difficulty eating, or unexplained weight loss. Early care helps prevent permanent vision loss and major dental damage. [66]

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FAQs

1. Is aplasia of lacrimal and salivary glands curable?
No. The missing glands cannot be regrown with current treatments. Management focuses on replacing tears and saliva, protecting eyes and teeth, and treating complications early so that quality of life and vision remain as good as possible. [67]

2. Is this condition hereditary?
Yes, many families show autosomal dominant inheritance, often linked to mutations in FGF10 or related genes. This means each child of an affected parent has a chance to inherit the condition, though severity can vary widely even within the same family. Genetic counseling can help families understand their risk. [68]

3. How is the diagnosis made?
Doctors use history (very early dry eye and dry mouth), eye exam, imaging of glands, and sometimes MRI or CT to show absent glands. Dental evaluation reveals caries and enamel problems. Genetic testing may confirm mutations like FGF10. Other causes of dry eye or dry mouth must be ruled out. [69]

4. Can children wear contact lenses for this condition?
Some older children and adults may benefit from scleral or PROSE lenses that protect the cornea with a fluid reservoir. They require very careful fitting and hygiene and are not the same as standard soft cosmetic lenses. The corneal specialist decides if they are safe. [70]

5. Will my child go blind?
Most patients do not go blind if they receive regular specialist care, use lubricants properly, and treat corneal problems early. However, the risk of serious corneal damage is higher than in the general population, so ongoing monitoring and quick treatment of problems are essential. [71]

6. Are dry-eye prescription drops safe for long-term use?
Drugs like cyclosporine and lifitegrast are designed for long-term use and have been studied in chronic dry eye. They can cause irritation or other side effects, so follow-up is needed, but they are generally safe when used exactly as prescribed by an eye doctor. [72]

7. Do salivary-stimulating tablets help if the glands are absent?
Medicines like cevimeline and pilocarpine only help if there is some functioning gland tissue. In complete aplasia, benefit may be limited or absent, and side effects may outweigh benefits. The specialist will decide after assessing imaging and residual function. [73]

8. Is there a link with other body problems?
Yes. ALSG can overlap with LADD syndrome, where people may also have ear, dental, finger, or kidney anomalies. Some patients also have autoimmune diseases that worsen dryness. This is why multidisciplinary assessment is recommended. [74]

9. Can normal school or work life be achieved?
With consistent lubrication, dental care, and appropriate aids like protective glasses and water bottles, many patients study and work normally. They may need accommodations like flexible break times for drops or oral care, which can be arranged through school or workplace support. [75]

10. Are there special precautions for surgery or anesthesia?
Yes. During any surgery or anesthesia, the eye surface and mouth should be carefully protected from drying (lubricating ointments, taping eyelids, humidified oxygen). It is important to tell the anesthetist and surgeon about the condition in advance. [76]

11. Should siblings be tested?
If the condition is confirmed genetically or strongly suspected, siblings should be examined for early signs of dryness, dental problems, or related anomalies. Early detection allows protective care to start before serious complications occur. Genetic counseling can guide testing decisions. [77]

12. Is research ongoing?
Yes. Researchers are studying the role of FGF10 and related pathways in gland development and exploring better dry-eye treatments and regenerative approaches. Families may be able to join registries or studies through tertiary centers or rare disease networks. [78]

13. Can diet alone fix dry eye and dry mouth?
No. Diet can support general health and oral health but cannot replace missing glands or fully prevent dryness. A healthy diet is an important partner to medical and dental care, not a substitute. [79]

14. Are herbal or “natural” remedies recommended?
Some herbal products claim to help dry eye or dry mouth, but strong scientific evidence is limited, and some can interact with medicines. Always discuss any supplement or herbal product with your doctor or pharmacist before use, especially in children. [80]

15. What is the most important thing families should remember?
The most important point is that early, regular, and combined care from eye doctors, dentists, and other specialists can greatly reduce long-term problems. Simple daily habits—using drops, protecting teeth, staying hydrated, and attending follow-ups—make a huge difference over many years. [81]