Region Jnkpings ln Odontologiska Institutionen
plus.rjl.se/oi

Clinical Diagnostics of Autosomal Dominant Aplasia of Lacrimal and Salivary Glands (ALSG) Associated with Mutations in the Fibroblast Growth Factor 10 Gene

Bergendal B*, Falahat B, Olson L, Wyon M, Entesarian M,
Dahl N

 

Background

Two families in four and three generations were identified with irritable eyes and dry mouth. Mutations in the gene encoding fibroblast growth factor 10 were shown to be associated with aplasia of lacrimal and salivary glands, ALSG, (Nat Genet. 2005;37:125-7). The disorder is rare with variable expressivity.

Materials and methods

Signs and symptoms according to clinical criteria for keratoconjunctivitis sicca and hyposalivation were registered. Magnetic resonance imaging (MRI) was used to confirm the diagnosis.  

Results

Clinical routine ophthalmological and oral examinations of 22 individuals did not clearly distinguish affected from non-affected individuals. The diagnosis of ALSG was set by MRI in 16 individuals and was the basis for the genetic analysis. Dryness of the mouth was not perceived as abnormal by all affected individuals. A few individuals 15–25 yrs of age showed signs of extensive dental erosion. Four affected individuals born 1937–1948 had become edentulous at 18–22 yrs. Difficulties when speaking, chewing, and swallowing were common.

Conclusions

  • Clinical criteria for keratoconjunctivitis sicca and dryness of the mouth were not discriminative enough to identify individuals affected by ALSG.

  • Congenital dryness of the mouth may not be perceived as a problem by the individual.

  • MRI is a non-invasive method which has a high discriminative capacity for identification of ALSG.

  • Agenesis and dysplasia of the major salivary glands can have detrimental effects on the teeth and cause problems when speaking, chewing, and swallowing.

  • Oral examinations can be crucial in the diagnosis of rare disorders.

Signs and symptoms according to clinical criteria for keratoconjunctivitis sicca and hyposalivation were registered. Magnetic resonance imaging (MRI) was used to confirm the diagnosis.

 

Uppdaterad: 2013-04-03
Anna Thofelt, Avdelningen för odontologisk radiologi Jönköping, Folktandvården