Bilateral parotid gland aplasia

Congenital absence of lacrimal puncta and salivary glands: Report of a Brazilian family and review

“…In 1925, Blackmar reported the first case of congenital absence of the lacrimal puncta associated with aptyalism and decreased lacrimation. To the best of our knowledge, few reports of this condition have been published [Ramsey, 1924;Blackmar, 1925;Smith and Smith, 1977;Caccamise and Townes, 1980;Sucupira et al, 1983;Wiesenfeld et al, 1983;Higashino et al, 1987;Whyte andHayward, 1989, Myers et al, 1994;Kumasaka et al, 1997].…”

“…Congenital absence of the major salivary glands is often regarded as part of a syndrome such as Goldenhar, Lacrimoauriculodentodigital (LADD), and mandibulo-facial dysostosis [Wiesenfeld et al, 1983;Wiedemann, 1997]. These conditions should be excluded in every patient with absent major salivary glands.…”

Symptomatic Unilateral Submandibular Gland Aplasia Associated with Ipsilateral Sublingual Gland Hypertrophy

“…The contralateral submandibular gland (arrow) shows attenuation characteristics similar to those of the right sublingual gland Fig. 3 Scintigraphic evaluation suggested the absence of the right submandibular gland mandibular arch during the ninth week [7][8][9]. Aplasia of the salivary gland may be partial or total; its cause is uncertain but it is believed to result from a regional disturbance in early fetal development [1,6].…”

Recurrent inflammation of accessory parotid tissue associated with unilateral parotid gland aplasia: diagnostic and therapeutic implications

“…The development of major salivary glands occurs from the 4th to the 8th week of embryonic life; the primordial parotid gland is the Wrst to appear, followed by the submandibular and the sublingual glands. They grow from a proliferation of oral ectodermal tissue, as a solid core, into the underlying mesenchyma; subsequently, these cores increase their size and acquire lumina [2,3]. Agenesis of salivary glands may occur as an isolated Wnding but frequently is related to genetic syndromes characterized by an autosomal pattern of inheritance in which alterations in structures deriving from the Wrst or second branchial arch determine developmental disorders such as hemifacial microsomia, aplasia of the lacrimal glands, mandibulofacial dysostosis, and lacrimo-auriculo-dentodigital syndrome [4]; the correct pathogenesis is currently unknown, but it is deWned as a complex pleiotropic autosomal dominant disorder [5].…”