Friedrich Reinhard E, Scheuer Hanna A
Department of Oral and Craniomaxillofacial Surgery, Eppendorf University Hospital, University of Hamburg, Hamburg, Germany
Kieferpraxis Lokstedt, Hamburg, Germany.
Anticancer Res. 2018 Jul;38(7):4083-4091. doi: 10.21873/anticanres.12698.
Neurofibromatosis type (NF1) is an autosomal dominant inherited tumor-suppressor gene syndrome of significant phenotypic variability with probable complete penetrance of the disease. Skeletal malformations of the skull belong to the phenotype of NF1. In the skull, defects of the calvaria and the sphenoid bone are diagnostically groundbreaking findings in NF1. Malformations of the facial skull are usually diagnosed in patients with NF1 in a topographical context with a plexiform neurofibroma (PNF). This report describes the rare occurrence of slowly advancing, unilateral destruction of proportions of the mandible in NF1, with the affected bone segment completely surrounded by a PNF. A malignant process was ruled out as a cause of partial organ loss. Various hypotheses on the pathogenesis of the rare finding are presented.
1型神经纤维瘤病（NF1）是一种常染色体显性遗传的肿瘤抑制基因综合征，具有显著的表型变异性，疾病可能完全外显。颅骨骨骼畸形属于NF1的表型。在颅骨中，颅骨和蝶骨的缺损是NF1诊断的突破性发现。面颅骨畸形通常在患有NF1且伴有丛状神经纤维瘤（PNF）的患者中在局部背景下被诊断出来。本报告描述了NF1中罕见的、缓慢进展的单侧下颌骨部分破坏情况，受累骨段完全被PNF包围。排除了恶性病变作为部分器官缺失的原因。文中提出了关于这一罕见发现发病机制的各种假说。
