Martinez-Regueira Soledad, Vazquez-Lopez Maria E, Somoza-Rubio Carlos, Morales-Redondo Ramon, Gonzalez-Gay Miguel A
Department of Pediatrics, Hospital Xeral-Calde, Lugo, Spain.
Pediatr Dermatol. 2006 Nov-Dec;23(6):528-32. doi: 10.1111/j.1525-1470.2006.00303.x.
Aplasia cutis congenita is a rare condition characterized by congenital absence of the epidermis, dermis, and subcutaneous tissue. It may occur as an isolated defect or associated with other anomalies. This study sought to determine the frequency of this condition over a 10-year-period at the single hospital for a well-defined population. A literature review of potential mechanisms implicated in the development of this condition was also conducted. A retrospective review of all case records of patients diagnosed with aplasia cutis congenita between January 1994 and December 2003 at Hospital Xeral-Calde, in the Lugo region of northwest Spain was undertaken. During the period of study four patients were diagnosed with this condition. Three of them were of the gypsy race. These three had aplasia cutis congenita associated with epidermolysis bullosa and deformed nails. The incidence of aplasia cutis congenita in our region was 2.8 cases per 10,000 newborns. It was found that the incidence of this disorder in northwest Spain was similar to that described in the literature. Careful study due to the frequent association of aplasia cutis congenita with other congenital anomalies and a complete obstetric and family history of all affected individuals are required to identify possible specific teratogens, intrauterine infections, chromosomal abnormalities, or history of this condition among relatives.
先天性皮肤发育不全是一种罕见的病症，其特征为先天性缺乏表皮、真皮和皮下组织。它可能作为一种孤立的缺陷出现，也可能与其他异常情况相关联。本研究旨在确定在一家单一医院针对特定人群的10年期间内这种病症的发病率。还对与该病症发生相关的潜在机制进行了文献综述。对西班牙西北部卢戈地区塞拉尔 - 卡尔德医院1994年1月至2003年12月期间诊断为先天性皮肤发育不全的所有患者病例记录进行了回顾性研究。在研究期间，有4名患者被诊断患有这种病症。其中3名是吉普赛族。这3名患者的先天性皮肤发育不全与大疱性表皮松解症和指甲畸形相关。我们地区先天性皮肤发育不全的发病率为每10,000名新生儿中有2.8例。研究发现，西班牙西北部这种病症的发病率与文献中描述的相似。由于先天性皮肤发育不全常与其他先天性异常相关，因此需要对所有受影响个体进行仔细研究，包括完整的产科和家族病史，以确定可能的特定致畸物、宫内感染、染色体异常或亲属中该病症的病史。
