To summarize the pathogenesis, diagnosis and treatment of aplasia cutis congenita (ACC) in China.

We reviewed and summarized all published ACC cases in China in the past four decades from China National Knowledge Internet(CNKI), Wan-Fang Medical Database and VIP database.

Totally, 258 cases were included, consisting of 144 males, 95 females and 19 of unknown gender. Fifteen cases reported family history, 16 had maternal morbidity during pregnancy, 17 exposed to maternal medication or toxic material. Skin lesions of ACC occurred on the scalp (39 cases, 15.1%), trunk (8 cases, 3.1%) or limbs (107 cases, 41.5%) and sometimes were manifested as multiples skin defects (104 cases, 40.3%). Eighty-nine cases (38.4%) were presented with isolated skin defect, and 169 (61.6%) were complicated by other abnormalities or congenital defects. Totally, 235(91.1%) cases were treated conservatively, 15 cases with dural defect, skull defect or defect area > 10% underwent dermatoplasty, and the other eight cases refused any treatment. Among the 248 cases being followed up, 233 (93.95%) healed after treatment for one week to four months, three had scar contracture, four developed joint contracture, and eight (3.2%) died of hemorrhage or infection.

ACC is a congenital skin defect which might involve skin, bone and multiple parts of the body, often complicated with other abnormalities. Superficial and small skin defect maybe managed conservatively, while for patients with bone exposure or defect, large area skin defect, surgical management is recommended. Appropriate management can ensure good outcomes in most cases.

Ectodermal dysplasia; Skin abnormalities