Lipkin A F, Coker N J, Jenkins H A
Arch Otolaryngol Head Neck Surg. 1986 Oct;112(10):1097-100. doi: 10.1001/archotol.1986.03780100085014.
A mother and daughter both presented at age 5 years with the triad of right-sided congenital cholesteatoma, right preauricular pits, and bilateral sensorineural hearing loss. Twenty-six years apart, both were treated with middle ear exploration and removal of a cholesteatoma that filled the sinus tympani, facial recess, and middle ear. The sensorineural hearing losses were nonprogressive, and the preauricular pits were asymptomatic. These two cases may represent a unique variant of branchio-oto dysplasia. The mechanism of formation of these anomalies and the possible modes of inheritance are conjectural. This triad, however, supports genetic predisposition rather than aberrant epithelial rests during morphogenesis as a possible cause in congenital cholesteatoma.
一位母亲和女儿均在5岁时出现了右侧先天性胆脂瘤、右侧耳前瘘管和双侧感音神经性听力损失三联征。时隔26年，两人均接受了中耳探查术，并切除了充满鼓窦、面神经隐窝和中耳的胆脂瘤。感音神经性听力损失未进展，耳前瘘管无症状。这两例病例可能代表了鳃耳发育异常的一种独特变体。这些异常的形成机制和可能的遗传方式尚属推测。然而，这种三联征支持先天性胆脂瘤的可能病因是遗传易感性而非形态发生过程中异常的上皮剩余。
