Sybert V P
Pediatr Dermatol. 1985 Nov;3(1):1-14. doi: 10.1111/j.1525-1470.1985.tb00478.x.
Aplasia cutis congenita (ACC) is a heterogeneous group of disorders whose common characteristic is focal absence of skin. In the majority of instances this is limited to the scalp, although other areas of the body may also be involved. Other congenital malformations have been reported to occur with ACC; limb defects appear to be a specific association. Given our experience with ACC, we suggest a classification based on genetically distinct entities. Type I ACC is limited to the scalp. Type II involves body or scalp; IIA involves body or limb defects. Type III is limited to the scalp or limbs. Type IV is associated with epidermolysis bullosa; type IVA is Bart syndrome. Although most reported cases have been sporadic, there are many familial occurrences of all types of ACC. Most published pedigrees are consistent with autosomal dominant inheritance with reduced penetrance, or autosomal recessive inheritance. Careful examination of family members of affected individuals is warranted.
先天性皮肤发育不全（ACC）是一组异质性疾病，其共同特征是局部皮肤缺失。在大多数情况下，这仅限于头皮，尽管身体的其他部位也可能受累。据报道，ACC还会伴有其他先天性畸形；肢体缺陷似乎是一种特定的关联。根据我们对ACC的经验，我们建议基于基因不同的实体进行分类。I型ACC仅限于头皮。II型累及身体或头皮；IIA型累及身体或肢体缺陷。III型仅限于头皮或四肢。IV型与大疱性表皮松解症相关；IVA 型是巴特综合征。尽管大多数报道的病例是散发性的，但所有类型的ACC都有许多家族性发病情况。大多数已发表的家系符合外显率降低的常染色体显性遗传或常染色体隐性遗传。有必要对受影响个体的家庭成员进行仔细检查。
