Case report: aplasia of the lacrimal and major salivary glands (ALSG).
Aplasia of the lacrimal and major salivary glands (ALSG) is a rare, autosomal dominant disorder that is characterized by aplasia, atresia, or hypoplasia of the lacrimal and salivary glands. Affected patients may have aplasia or hypoplasia or minimal involvement of these glands, as there is considerable variation in expressivity [M. Entesarian, et al., Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands, Nat. Genet. 37 (2) (2005) 125-127]. The underlying cause has been linked to "loss of function" mutations in the fibroblast growth factor 10 (FGF10) gene [M. Entesarian, et al., FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG), Eur. J. Hum. Genet. 15 (3) (2007) 379-382]. Lacrimal gland absence or hypoplasia causes symptoms such as irritable eyes, recurrent eye infections and epiphora. Symptoms associated with hypoplasia or aplasia of the major salivary glands include xerostomia, oral inflammation, dental caries and dental erosion. Other clinical signs of this disorder include atresia of nasolacrimal duct and absence of the lacrimal puncta. Unfortunately, genetic testing for this disorder is currently unavailable. However, MRI is an excellent alternative means for evaluating this disorder and also for ruling out other possible structural defects contributing to patients, symptoms. We present a case report of ALSG as an extremely rare, yet important alternative diagnosis in cases with symptoms and signs suggestive of Sjögren's syndrome.
Department of Otolaryngology/Head & Neck Surgery, Wake Forest University School of Medicine, 4th Floor, Watlington Hall, Winston Salem, NC 27157, USA. dchapman@wfubmc.edu
D Brandon
DB
Chapman
Vandana
V
Shashi
Daniel J
DJ
Kirse
D002675:Child, Preschool; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D003937:Diagnosis, Differential; D005346:Fibroblast Growth Factors / Q000235:genetics; D015870:Gene Expression / Q000235:genetics; D006801:Humans; D007223:Infant; D007765:Lacrimal Apparatus / Q000002:abnormalities*; D008279:Magnetic Resonance Imaging; D008297:Male; D020125:Mutation, Missense / Q000235:genetics; D012469:Salivary Glands / Q000002:abnormalities*; D012859:Sjogren's Syndrome / Q000175:diagnosis
D005346:Fibroblast Growth Factors