Kowalski D C, Fenske N A
Department of Internal Medicine, University of South Florida College of Medicine, Tampa.
J Am Acad Dermatol. 1992 Oct;27(4):575-82. doi: 10.1016/0190-9622(92)70225-5.
The focal facial dermal dysplasias (FFDD) are a genetically heterogeneous group of disorders characterized by congenital bilateral scarlike facial lesions, with or without associated facial anomalies. The cases have been reported under various names; thus the nosology is confusing and unclear.
Our purposes were to report our kindred, clearly delineate the various types of FFDD reported, and propose a new simplified classification.
The clinical and histologic changes were examined and genealogy determined for our kindred. The medical literature was reviewed and the reported cases reexamined and categorized according to their clinical features and inheritance patterns.
We determined that there are three distinct varieties of FFDD: type I, autosomal dominant FFDD; type II, autosomal recessive FFDD; and type III, FFDD with other facial features.
We propose a new classification and provide evidence for three distinct varieties of FFDD: type I, autosomal dominant FFDD; type II, autosomal recessive FFDD; and type III, FFDD with other facial features (Setleis syndrome). Our kindred represents type II.
局灶性面部皮肤发育异常（FFDD）是一组具有遗传异质性的疾病，其特征为先天性双侧瘢痕样面部损害，可伴有或不伴有相关面部畸形。这些病例曾以多种名称报道，因此疾病分类学混乱且不明确。
我们旨在报告我们的家族病例，清晰描述已报道的各种FFDD类型，并提出一种新的简化分类法。
对我们家族病例进行临床和组织学检查，并确定其家系谱。回顾医学文献，根据已报道病例的临床特征和遗传模式对其重新检查并分类。
我们确定FFDD有三种不同类型：I型，常染色体显性遗传FFDD；II型，常染色体隐性遗传FFDD；III型，伴有其他面部特征的FFDD。
我们提出一种新的分类法，并为FFDD的三种不同类型提供依据：I型，常染色体显性遗传FFDD；II型，常染色体隐性遗传FFDD；III型，伴有其他面部特征的FFDD（塞特勒斯综合征）。我们的家族病例代表II型。
