Maillet-Declerck Marie, Vinchon Matthieu, Guerreschi Pierre, Pasquesoone Louise, Dhellemmes Patrick, Duquennoy-Martinot Véronique, Pellerin Philippe
Hôpital Jeanne de Flandre - Clinique de chirurgie et d'orthopédie de l'enfant, Lille, France.
Eur J Pediatr Surg. 2013 Apr;23(2):89-93. doi: 10.1055/s-0032-1322539. Epub 2012 Aug 17.
Aplasia cutis congenita (ACC) is a rare congenital disorder, which most commonly involves the scalp, and can affect the galea, the pericranium, the bone, and the dura mater. ACC thus is at risk of infection and hemorrhage. There is no consensus over the ideal management and the role for plastic surgery.
We reviewed retrospectively our experience with 29 patients treated between 1976 and 2011.
The patients were 17 male and 12 female, 25 being referred immediately at birth. The size of the defect ranged from 1 to 192 cm2. Thirteen patients had bone aplasia. Initial conservative treatment was decided in five cases; 15 patients underwent excision-sutures with or without local plasty, 8 underwent pedicled scalp flap, and 1 had skin graft followed by further reconstruction by a free flap. Four patients died in neonatal period because of infection or associated ailments. All others patients achieved complete healing.
The mortality rate of ACC remains high and increases with the size of bone defect. We propose a therapeutic strategy based on the size of the skin defect and the nature of underlying exposed structures. Cranioplasty is exceptionally necessary because of good spontaneous bone regeneration within few months or years. Cosmetic appearance can be improved later by skin expansion.
Aplasia cutis congenita is a rare malformation with sometimes a rapid fatal issue. A precise evaluation of surface and depth of the lesion is essential to decide if and how to operate, in order to provide rapid and efficient coverage.
先天性皮肤发育不全（ACC）是一种罕见的先天性疾病，最常累及头皮，可影响帽状腱膜、颅骨膜、骨骼和硬脑膜。因此，ACC有感染和出血的风险。对于理想的治疗方法和整形手术的作用尚无共识。
我们回顾性分析了1976年至2011年间治疗的29例患者的经验。
患者中男性17例，女性12例，25例在出生时即被转诊。缺损面积从1至192平方厘米不等。13例患者存在骨骼发育不全。5例患者决定采用初始保守治疗；15例患者接受了切除缝合术，其中部分患者进行了或未进行局部整形，8例患者接受了带蒂头皮瓣手术，1例患者接受了皮肤移植，随后通过游离瓣进行了进一步重建。4例患者在新生儿期因感染或相关疾病死亡。所有其他患者均实现完全愈合。
ACC的死亡率仍然很高，且随着骨缺损面积的增大而增加。我们根据皮肤缺损的大小和潜在暴露结构的性质提出了一种治疗策略。由于在数月或数年内可实现良好的自发性骨再生，颅骨成形术并非绝对必要。后期可通过皮肤扩张改善外观。
先天性皮肤发育不全是一种罕见的畸形，有时会迅速导致致命后果。精确评估病变的表面和深度对于决定是否以及如何进行手术至关重要，以便提供快速有效的覆盖。
