aplasia of lacrimal and salivary glands

Aplasia of the lacrimal and salivary glands (ALSG) is a rare disorder that primarily affects the development of the tear and saliva-producing glands. It is characterized by the underdevelopment or absence (aplasia, atresia, or hypoplasia) of these glands, leading to symptoms such as recurrent eye infections and dry mouth. Changes in the FGF10 gene are implicated in the condition, which follows an autosomal dominant inheritance pattern. The condition typically manifests in infancy, and its presentation can vary among affected individuals.

Individuals with aplasia of the lacrimal and salivary glands may experience a range of symptoms that affect both the eyes and the oral cavity. Early in life, children can present with recurrent eye infections, irritable and watery eyes (epiphora), and signs of discomfort due to inadequate tear production. In the oral cavity, features such as dry mouth (xerostomia), dental caries, dental erosion, and oral inflammation are common. Not all individuals experience all features, and severity varies considerably.

The condition is primarily caused by alterations in the FGF10 gene, which plays a crucial role in the development of the lacrimal and salivary glands. It is inherited in an autosomal dominant pattern, meaning that a single altered copy of the gene is sufficient to cause the disorder. This also implies that an affected individual has a 50% chance of passing the variant to their offspring. Given the variability in clinical presentation, genetic counseling is recommended for families to understand the implications of the genetic change.

Currently, management focuses on supportive care and symptom management, with treatment tailored to the needs of each individual. While there are no FDA-approved or foundational therapies specifically for this condition, treatment often involves a multidisciplinary team that may include ophthalmologists, dentists, and other specialists to address the ocular and oral manifestations. In this context, interventions such as regular eye care, dental hygiene measures, and moisture replacement therapies can help reduce symptoms. Patients should discuss treatment options with their healthcare team and consider genetic counseling to gain further insights into management strategies.

Outcomes for individuals with aplasia of the lacrimal and salivary glands vary widely, and long-term quality of life depends on the severity of symptoms and access to supportive care. With current standards of care, many individuals manage their symptoms well into adulthood, although the condition may require ongoing management. Outcomes described in medical literature continue to evolve as standards of care improve. Families are encouraged to connect with specialists and genetic counselors to understand potential implications and to receive guidance on managing the condition over time.