Lacrimo-auriculo-dento-digital syndrome with AIRE mutation: A case report

Congenital absence or hypoplasia of the major salivary glands is rarely observed and easily overlooked in the clinic. Lacrimo-auriculo-dento-digital syndrome (LADD) is a congenital anomaly disorder that is characterized by aplasia, atresia, or hypoplasia of the lacrimal and salivary glands and caused by FGFR2, FGFR3, or FGF10 gene mutation. Autoimmune polyendocrine syndrome type 1 (APS-I) caused by an AIRE gene mutation is a rare inherited autoimmune disease characterized by chronic mucocutaneous candidiasis, Addison disease, and hypoparathyroidism. However, simultaneous mutations in pathogenic genes of the two syndromes (LADD and APS-I) in one patient is rarely observed. Herein, we have presented a patient with main complaints of xerostomia and xerophthalmia that was diagnosed with LADD syndrome with AIRE mutation.