aplasia of lacrimal and salivary glands

Aplasia of Lacrimal and Salivary Glands (ALSG): A Rare Autosomal Dominant Disorder

Aplasia of the lacrimal and salivary glands, also known as ALSG, is a rare autosomal dominant disorder characterized by aplasia, atresia, or hypoplasia of the lacrimal and salivary glands. This condition leads to varying features since infancy, including:

• Recurrent eye infections
• Irritable eyes
• Epiphora (constant tearing)
• Xerostomia (dryness of the mouth)
• Dental caries
• Dental erosion
• Oral inflammation

ALSG is a rare disorder with scarce cases described in the recent literature. The pattern of genetic inheritance is autosomal dominant with variable expressivity.

Symptoms and Complications

The symptoms and complications associated with ALSG can vary depending on the severity of the condition. Some common features include:

• Irritable eyes and epiphora due to lacrimal gland aplasia
• Xerostomia and dryness of the mouth due to salivary gland aplasia
• Increased risk of dental erosion, dental caries, periodontal disease, and oral infections due to reduced saliva production

References

• [1] Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation. [1]
• [2] Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation. [2]
• [11] Aplasia of lacrimal and salivary glands (ALSG) is a rare autosomal dominant condition characterized by irritable eyes, epiphora (constant tearing), and xerostomia (dryness of the mouth), which increases risk of dental erosion, dental caries, periodontal disease, and oral infections. [11]
• [12] Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation. [12]
• [14] Aplasia of lacrimal and salivary glands (ALSG) is a rare autosomal dominant condition characterized by irritable eyes, epiphora (constant tearing), and xerostomia (dryness of the mouth), which increases risk of dental erosion, dental caries, periodontal disease, and oral infections. [14]
• [15] Aplasia of lacrimal and salivary glands (ALSG) is a rare autosomal dominant condition characterized by irritable eyes, epiphora (constant tearing), and xerostomia (dryness of the mouth), which increases risk of dental erosion, dental caries, periodontal disease, and oral infections. [15]

Aplasia of lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy.

The signs and symptoms of ALSG include:

• Recurrent eye infections [1]
• Irritable eyes [2][3][4]
• Epiphora (constant tearing) [5][6]
• Xerostomia (dryness of the mouth) [7][8]
• Dental caries [9][10]
• Dental erosion [11][12]
• Oral inflammation [13]

In some cases, individuals with ALSG may also experience:

• Atresia of nasolacrimal duct [14]
• Absence of the lacrimal puncta [15]
• Congenital lacrimal obstruction [16]

It's worth noting that the clinical signs and symptoms of ALSG can improve with treatment, such as plugging the left upper punctum and topical lubricants [17]. However, failure to make an early diagnosis may result in inappropriate lacrimal surgery and dry eye [18].

References:

[1] Context 1 [2] Context 2 [3] Context 6 [4] Context 8 [5] Context 5 [6] Context 12 [7] Context 8 [8] Context 14 [9] Context 10 [10] Context 11 [11] Context 10 [12] Context 11 [13] Context 3 [14] Context 10 [15] Context 11 [16] Context 9 [17] Context 9 [18] Context 9

Diagnostic Tests for Aplasia of Lacrimal and Salivary Glands

Aplasia of lacrimal and salivary glands is a rare genetic disorder characterized by the absence or underdevelopment of these glands. Diagnostic tests are essential to confirm this condition.

• Imaging tests: Imaging tests such as MRI (Magnetic Resonance Imaging) are necessary to confirm the lack of formation of salivary glands and alteration of lacrimal system [2]. MRI is an excellent alternative means for evaluating this disorder, especially when genetic testing is unavailable [4].
• Ultrasound: Ultrasound provides a safe and rapid diagnostic test for suspected salivary gland agenesis in children [10].
• Genetic testing: While genetic testing for ALSG (Aplasia of Lacrimal and Salivary Glands) is currently unavailable, full gene sequencing can be performed to identify the underlying genetic mutation [1].

It's essential to note that a combination of imaging tests and clinical evaluation may be necessary to confirm the diagnosis.

References:

[1] Aplasia of lacrimal and salivary glands: Full gene sequencing. GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory...

[2] by D Neagu · 2018 · Cited by 6 — Imaging tests are necessary to confirm the lack of formation of salivary glands and alteration of lacrimal system.

[4] by DB Chapman · 2009 · Cited by 31 — Unfortunately, genetic testing for this disorder is currently unavailable. However, MRI is an excellent alternative means for evaluating this disorder and also...

[10] by RCS ShahFDS · 2001 · Cited by 30 — In a child with suspected salivary gland agenesis, ultrasound provides a safe and rapid diagnostic test...

Treatment Options for Aplasia of Lacrimal and Salivary Glands

Aplasia of the lacrimal and salivary glands (ALSG) is a rare condition characterized by the underdevelopment or absence of these glands. While there is no cure for ALSG, various treatment options can help manage its symptoms.

Topical Therapies

According to search results [5], topical therapies are easily available for salivary gland aplasia. These include:

• Saliva substitutes and lubricants like glycerin, lemon, carboxyl methyl cellulose
• Regular application of topical fluoride to prevent tooth decay

These treatments can help alleviate symptoms such as dry mouth and tooth decay.

Symptomatic Treatment

Search result [1] mentions that symptomatic treatment was indicated for a patient with ALSG. However, no cholinergic agent like Pilocarpine was prescribed due to the patient's asthma medical history.

Consultation with a Healthcare Professional

It is essential to consult with a healthcare professional for personalized medical advice and treatment. Search result [3] emphasizes this point, stating that patients should seek medical attention for proper diagnosis and management of ALSG.

References

For more information on ALSG, including associated genes, mutations, phenotypes, pathways, drugs, and more, please refer to search result [6].

Note: The above answer is based on the provided context and search results.

The differential diagnosis for aplasia of lacrimal and salivary glands (ALSG) includes several conditions that can present with similar symptoms.

• Sjögren's syndrome: This is an autoimmune disorder characterized by inflammation of the exocrine glands, including the lacrimal and salivary glands. It can cause dry eyes (xerophthalmia), dry mouth (xerostomia), and other systemic symptoms [10][12].
• Chronic sialadenitis: This is a condition characterized by chronic inflammation of the salivary glands, which can lead to swelling, pain, and dysfunction of the glands.
• Sialolithiasis: This is a condition where small stones (calculi) form in the salivary glands, leading to obstruction of saliva flow and symptoms such as pain and swelling.
• Benign lymphoepithelial lesions: These are benign growths that can occur in the salivary glands, particularly in individuals with autoimmune disorders like Sjögren's syndrome.
• Diabetes mellitus: This is a metabolic disorder that can cause dry mouth (xerostomia) and other systemic symptoms.
• Xerostomia associated with medication: Certain medications can cause dry mouth as a side effect, which can be mistaken for ALSG.

It's essential to note that the differential diagnosis of ALSG also includes conditions like aplasia or hypoplasia of the lacrimal gland, parotid gland agenesis, and other ectodermal defects [6][7].

In addition, mutations in the gene encoding fibroblast growth factor 10 have been associated with ALSG, which can help in the differential diagnosis [11]. A minor salivary gland biopsy can also confirm the diagnosis of ALSG, particularly if the parotid gland is enlarged [10].

A thorough evaluation and consideration of these conditions are necessary to accurately diagnose and differentiate ALSG from other similar conditions.