頜下腺發育不全(agenesis of submandibular gland)是一個相當罕見的先天性疾病,此症約有一半的病人無症狀,另一半的病人會表現出口乾、吞嚥困難、反覆口腔潰瘍、頸部腫塊(其他軟組織填補空隙或其他唾液腺代償肥厚)等症狀。頷下腺是口腔內主要的唾液分泌腺體之一,唾液分泌量下降容易影響口腔衛生,增加蛀牙、牙齦炎、口角炎等口腔感染症發生的機會。此症無症狀者無需治療,有症狀者建議支持性治療(補充水份),並適時使用藥物(唾液腺刺激劑或人工唾液)減少口乾的症狀。本文報告1名28歲女性,因長期口乾、吞嚥困難、反覆口腔潰瘍、近期右側口腔底腫塊等症狀於外院診斷為乾燥症,至本院求診尋求第二意見。血清自體免疫抗體檢查為陰性,經超音波與電腦斷層檢查發現右側頜下腺發育不全合併右側舌下腺代償性肥大。病人經詳細病情解釋後,選擇支持性治療並於門診追蹤,本文提出病例報告並回顧文獻。
Agenesis of the submandibular gland is a rare congenital disease. Approximately half of the patients with this disease are asymptomatic. The other half present with dry mouth, swallowing difficulty, frequent oral ulcers, and palpable neck mass (presence of adipose or lymphatic tissue compensating for the gaps caused by the absence of the submandibular glands or hypertrophic salivary glands). Asymptomatic patients do not require treatment, whereas those with symptoms require supportive treatment (water supplements) and medication (sialagogue, artificial saliva, or other commercial products) to reduce the symptoms of dry mouth. We report the case of a 28-year-old female patient who had long-term dry mouth, swallowing difficulty, frequent oral ulcers, and a recent palpable right mouth floor mass. The patient visited our hospital seeking a second opinion after receiving a diagnosis of Sjögren syndrome at a different hospital. A blood test revealed negative autoimmune antibodies for Sjögren syndrome. Head and neck ultrasound and computed tomography revealed agenesis of the right submandibular gland and hypertrophy of the right sublingual gland. The patient received supportive treatment after she was provided with a detailed explanation of the disease, and she has been regularly followed up at the outpatient clinic.