Hereditary and Congenital Conditions

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APLASIA

Aplasia of one or all of the major salivary glands is a rare condition that may present with severe xerostomia, rampant caries, candidiasis, pharyngitis, and laryngitis. In addition, "dental chipping"

(Mandel 2006) and recurrent herpes labialis (Heath, McCleod, and Pearce 2006) have been described as presenting signs of salivary gland aplasia. The condition may occur as part of a recognized syndrome, associated with other congenital anomalies, or as an isolated phenomena. Aplasia of the lacrimal and salivary glands (ALSG) presenting with irritable eyes and xerostomia is an autosomal dominant condition that appears to be related to mutations in FGF10 (Entesarium, Dalqvist, and Shashi et al. 2007). In lacrimo-auriculo-dento-digital syndrome (LADD), agenesis of salivary glands as well as lacrimal glands can be seen and is an autosomal dominant condition with variable expressivity (Inan, Yilmaz, and Demir et al. 2006). A case of subman-dibular agenesis with parotid gland hypoplasia in association with ectodermal dysplasia is reported (Singh and Warnakulasuriya 2004). In addition, aplasia in association with hypoplasia of the thyroid (D'Ascanio et al. 2006) and accessory parotid tissue (Antoniades et al. 2006) are described. Management of these cases is symptomatic and directed toward the xerostomia and other oral health care issues.

DUCT ATRESIA

Duct atresia is rare and in a 2001 review (Hoffrichter, Obeid, and Soliday) only 8 previous cases of submandibular duct atresia were found, with 6 unilateral and 2 bilateral. The condition usually presents in babies or infants as a "ranula" and is thought to be due to failure of the duct to penetrate the oral mucosa during development. The diagnosis can be made by the presence of dilated Whar-ton's duct(s) on CT scan. Management is by sialodochoplasty to create a new duct orifice.

ABERRANT GLANDS

Accessory glands are ectopic in position but possess a duct that usually opens into another main duct, for example, the accessory parotid gland, whereas aberrant glands have no duct system. Some of these aberrant glands can form fistulae and secrete while the patient is eating; others do not secrete but form choristomas. The commonest sites for these aberrant glands are the lateral neck, pharynx, and middle ear (Enoz and Suoglu 2006), presumably from their proximity to the first two branchial arches during development. These aberrant glands may be involved in neoplastic change and may account for the central salivary tumors of the jaws (usually the mandible).

POLYCYSTIC DISEASE OF THE SALIVARY GLANDS

This is a rare disease that may be a hereditary condition, as familial cases have been reported

(Smyth, Ward-Booth, and High 1993). It is thought to be due to a developmental abnormality of the intercalated duct system. Seifert, Thomsen, and Donath (1981) reviewed 5,739 cases of salivary gland disease and found 360 cases of cystic disease, of which 2 patients were classified with dysgenetic polycystic parotid disease. Although it is usually bilateral, unilateral cases have been described (Seifert, Thomsen, and Donath 1981) (Figure 13.1). It is said to be always seen in females; however, a case of the condition in the submandibular glands in a male patient has been reported (Garcia, Martini, and Caces et al. 1998). Histologically the gland is replaced with multiple cysts that may contain spheroliths or microliths. There is a marked absence of inflammatory change. Parotidectomy may be carried out for aesthetic reasons.

Shingles Eye Swollen Shut
Figures 13.1a and 13.1b. Middle-aged woman with right parotid swelling for "many" years. Patient is concerned regarding her appearance, as she has no symptoms.

Figures 13.1c, 13.1d, 13.1e, and 13.1f. MR films show multiple cysts within the gland. At the time of surgery multiple microliths were seen.

Figures 13.1c, 13.1d, 13.1e, and 13.1f. MR films show multiple cysts within the gland. At the time of surgery multiple microliths were seen.

FIRST BRANCHIAL CLEFT CYSTS, FISTULAE, AND SINUSES

Anomalies of the first brachial arch are intimately associated with the parotid gland and the periauric-ular structures. They are less common than second branchial arch anomalies. In a survey of 183 patients with branchial cleft cysts and fistulae, 148 patients (80.8%) had branchial cysts of which 35 (23.6%) arose from the first arch and 35 (23.6%) had fistulae of which 11 (31.4%) arose from the first arch (Agaton-Bonilla and Gay-Escoda 1996). The usual figure for the incidence of first branchial arch anomalies is 10% (Olsen, Maragos, and Weiland 1980).

Although Work (1972) classified type I cystic lesions containing only squamous epithelium and type II lesions, which contained squamous epithelium with adnexal skin structures plus cartilage, the presence of infection may make it impossible to classify these lesions using these criteria. Olsen, Maragos, and Weiland (1980) simplified this classification, dividing the type II anomaly into cysts, fistulae, and sinuses. Cysts are tracts with no opening, sinuses are a tract with a single opening usually from the external auditory canal, and fis-tulae are tracts with two openings usually from the external auditory meatus to the anterior neck above the hyoid bone. In their series of 39 cases, Triglia, Nichollas, and Ducroz et al. (1998) found 20 (51%) sinuses, 11 (28%) fistulae, and 8 (21%) cysts. Similarly, in the series of 10 patients by Solares, Chan, and Koltal (2003), 5 (50%) were sinuses, 3 (30%) fistulae, and 2 (20%) cysts.

Presentation is usually with recurrent infection, with discharge of pus or abscess in the anterior neck, a chronic purulent discharge from the ear, or an infected swelling of the parotid region (Figure 13.2). The usual age of presentation is between birth and 20 years, with most cases diagnosed at age 2.5 years.

Unfortunately the infection is often not recognized as a manifestation of a first branchial arch abnormality and is treated with drainage or inadequate limited exploration, which will complicate subsequent surgery. In the series of Triglia, Nichol-las, and Ducroz et al. (1998), 44% of patients had undergone prior surgery, while 65% of patients had incomplete surgery before referral in another

Figure 13.2. Twenty-year-old girl with recurrent localized infection of the parotid and a periparotid sinus.

paper (Martinez et al. 2007). As the fistulae and sinuses communicate with the external auditory canal, and their relationship to the facial nerve is variable, a wide parotidectomy exposure with dissection of the nerve is essential for complete removal. In fistulae to the auditory meatus removal of the cartilage surrounding the fistulous tract is recommended (Figure 13.3). If the fistula or sinus tract is not completely removed the lesion will recur, and although the recurrence rate is small,

Figure 13.3a. Operative photograph of patient with a discrete mass thought to be a parotid tumor. (Patient's ear at lower right of image.) While dissecting down the external auditory meatus a fistulous tract to the cartilage was identified and the clamp points to a bead of pus from the fistu-lous tract.

Figure 13.3a. Operative photograph of patient with a discrete mass thought to be a parotid tumor. (Patient's ear at lower right of image.) While dissecting down the external auditory meatus a fistulous tract to the cartilage was identified and the clamp points to a bead of pus from the fistu-lous tract.

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Responses

  • Nicol
    Is blocked salivary glands inherited?
    5 months ago
  • bailey
    Is it hereditary to not have saliva glands?
    28 days ago

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