Helling K, Flöttmann T, Schmitt-Gräff A, Scherer H
Universitäts-HNO-Klinik, Klinikum Benjamin Franklin der Freien Universität Berlin.
HNO. 1996 May;44(5):264-6.
Tuberous sclerosis (Bourneville-Pringle's disease) is a rare, largely autosomal dominant neurocutaneous disease. The disease can also result from spontaneous mutations. Although strongly variable in its manifestation, manifestations are typically characterized by involvement of the central nervous system (early childhood seizures), skin (facial angiofibromas) and kidneys (angiomyolipomas). In the case described, a 67-year-old female patient complained exclusively of obstructed nasal breathing that was found to be due to angiofibromas in the nasal vestibule. Oral fibromas were asymptomatic, while fibromas in the facial region resulted in some cosmetic changes. This exclusively ENT manifestation of a patient with tuberous sclerosis has not been described previously. As treatment, the fibromas were ablated by an Nd:YAG laser under local anesthesia. Other therapeutic options are described. Additional clarification of all organ manifestations is advisable in view of numerous possible pathologies present. Genetic consultation is also recommended, particularly for patients with an oligosymptomatic variant.
结节性硬化症(布尔内维尔-普林格尔病)是一种罕见的、主要为常染色体显性遗传的神经皮肤疾病。该病也可由自发突变引起。尽管其表现差异很大,但通常表现为中枢神经系统受累(幼儿期癫痫发作)、皮肤(面部血管纤维瘤)和肾脏(血管平滑肌脂肪瘤)。在所述病例中,一名67岁女性患者仅主诉鼻呼吸受阻,发现是由于鼻前庭血管纤维瘤所致。口腔纤维瘤无症状,而面部区域的纤维瘤导致了一些外观变化。结节性硬化症患者仅出现耳鼻喉科表现的情况此前未见报道。作为治疗方法,在局部麻醉下用Nd:YAG激光切除纤维瘤。还描述了其他治疗选择。鉴于存在多种可能的病理情况,建议对所有器官表现进行进一步明确。也建议进行遗传咨询,特别是对于症状较少的变异型患者。