Raeste A M, Collan Y, Kilpinen E
Scand J Dent Res. 1978 Sep;86(5):357-65. doi: 10.1111/j.1600-0722.1978.tb00638.x.
A kindred affected with hereditary fibrous hyperplasia of the gingiva with varying penetrance and expressivity is described. Most of the affected members were short in stature. The pedigree strongly suggested an autosomal dominant mode of inheritance. The penetrance of the trait varied, and three unaffected persons had transmitted the disease to their offspring. There were two modes of expression. The mild form showed only bilateral rugose thickening of the palate, whereas the severe form showed gingival hyperplasia in addition to changes in the palatal mucosa. The changes were already present at birth. Histological examination showed large amounts of alcian blue-positive extracellular material in the subepithelial connective tissue of the hyperplastic mucosa. Loose collagen-poor connective tissue with alcian blue-positive extracellular material and dense collagen-rich connective tissue in the rugose projections of the palatal mucosa were often segregated.
本文描述了一个患有遗传性牙龈纤维增生症的家族，该病症具有不同的外显率和表现度。大多数患病成员身材矮小。系谱强烈提示为常染色体显性遗传模式。该性状的外显率有所不同，有三个未患病的人将此病传给了他们的后代。存在两种表现形式。轻度形式仅表现为双侧腭部皱襞增厚，而重度形式除腭部黏膜改变外还表现为牙龈增生。这些改变在出生时就已存在。组织学检查显示，增生黏膜的上皮下结缔组织中有大量阿尔辛蓝阳性的细胞外物质。腭部黏膜皱襞突起处，疏松的、缺乏胶原的结缔组织以及富含阿尔辛蓝阳性细胞外物质且胶原丰富的致密结缔组织常常相互分隔。
