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Abstract：
Focal facial dermal dysplasias (FFDDs) are rare genetic/developmental disorders characterised by bilateral \'scar-like\' facial lesions. Four subtypes are classified by the bitemporal (FFDD1-3) or preauricular (FFDD4) lesion location. FFDD1-3 are differentiated by additional facial abnormalities and inheritance patterns. Although the genetic defects causing FFDD1 and FFDD2 remain unknown, recent studies identified defects causing FFDD3 and FFDD4. Here, the clinical phenotypes, genetic defects and inheritance of the four FFDD subtypes are described. In addition, the overlapping facial abnormalities in FFDD3 and two other genetic disorders, Ablepharon macrostomia syndrome and Barber-Say syndrome, are noted. Familiarity with the FFDDs by clinicians will further delineate the phenotypes and genetic/developmental defects of these dermal facial disorders.
摘要：
局灶性面部真皮发育不良（FFDDs）是罕见的遗传/发育障碍，其特征是双侧“疤痕样”面部病变。通过双颞叶（FFDD1-3）或耳前（FFDD4）病变位置对四种亚型进行分类。FFDD1-3通过其他面部异常和遗传模式来区分。尽管导致FFDD1和FFDD2的遗传缺陷仍然未知，最近的研究发现了导致FFDD3和FFDD4的缺陷。这里,临床表型，描述了四种FFDD亚型的遗传缺陷和遗传。此外,FFDD3重叠的面部异常和另外两种遗传性疾病，巨大口炎综合征和Barber-Say综合征，被注意到。临床医生对FFDD的熟悉将进一步描述这些真皮面部疾病的表型和遗传/发育缺陷。
