Schendel S A
Department of Plastic and Reconstructive Surgery, Stanford University Medical Center, CA 94305.
Ann Plast Surg. 1988 May;20(5):462-7. doi: 10.1097/00000637-198805000-00011.
First described in 1955, Van Buchem disease is an infrequently occurring hereditary sclerosing bone dysplasia. It is more properly called hyperostosis corticalis generalisata. The most striking feature is an unusual enlargement of the mandible with a normal dental occlusion. Skull base, spine, and pelvic bone involvement is also seen. The defect appears to be an increase in cortical bone thickness or sclerosis. The condition first appears around puberty in the autosomal recessive type and in early childhood with the autosomal dominant type. Reported here is a family with Van Buchem disease, in which surgical recontouring of the mandible was performed for one of the members. The surgery was performed by a combined intraoral/extraoral technique with good aesthetic results and minimal morbidity. A differential diagnosis and workup is also presented.
范布赫姆病于1955年首次被描述，是一种罕见的遗传性硬化性骨发育异常。它更确切地被称为全身性皮质骨增生症。最显著的特征是下颌骨异常增大，而牙列咬合正常。还可见颅底、脊柱和骨盆骨受累。病变表现为皮质骨厚度增加或硬化。常染色体隐性型疾病首次出现在青春期左右，常染色体显性型则出现在儿童早期。本文报道了一个患有范布赫姆病的家族，其中一名成员接受了下颌骨手术重塑。手术采用口内/口外联合技术，取得了良好的美学效果，且并发症最少。本文还介绍了鉴别诊断及检查方法。
