AlBattal Nouf Z, Alkhathami Ali M, Alhazmi Bushra, Alturki Ahmed T, BinManie Rahaf Mohammed
College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
College of Medicine, Taif University, Taif, Saudi Arabia.
Int J Surg Case Rep. 2024 Sep;122:110090. doi: 10.1016/j.ijscr.2024.110090. Epub 2024 Jul 27.
Polydactyly of the hand is a common anomaly among pediatrics, which can present in conjugation with other syndromes or on its own. Various types can be seen, ranging from the involvement of skin only to a completely formed digit. We report the first case of pacifier type thumb duplication presenting with VACTERL association. Herein, we also summarize the existing literature of the distinctive features and management of pacifier polydactyly.
A premature male infant with intrauterine growth restriction due to maternal type II diabetes was referred for a soft tissue attachment to the left hand. The infant showed VACTERL association signs, including a single kidney, small atrial septal defect, and ventricular septal defect. Examination revealed preaxial polydactyly with a cystic swelling connected to the palm.
Preaxial polydactyly is the second most common congenital hand anomaly, and its pathology is thought to involve the disruption of apoptosis during embryonic development. Pacifier-type polydactyly is a unique variation characterized by severe edema of the soft tissue digit, believed to be caused by physical damage in utero. The case presented did not require surgical intervention as the duplicated thumb underwent spontaneous autoamputation as opposed to other cases in the literature.
This is the first reported case of pacifier-type thumb duplication in a patient with VACTERL association. The presentation of this condition adds to the existing body of literature on VACTERL association. Surgical removal is the treatment of choice for pacifier polydactyly, but spontaneous resolution can occur.
手部多指畸形是儿科常见的先天性异常，可与其他综合征合并出现，也可单独存在。可见多种类型，从仅累及皮肤到完全形成一个手指。我们报告了首例伴有VACTERL综合征的奶嘴型拇指重复畸形病例。在此，我们还总结了关于奶嘴型多指畸形独特特征及治疗的现有文献。
一名因母亲患有II型糖尿病而宫内生长受限的早产男婴因左手软组织附着物前来就诊。该婴儿表现出VACTERL综合征的体征，包括单肾、小型房间隔缺损和室间隔缺损。检查发现轴前多指畸形，伴有一个与手掌相连的囊性肿胀。
轴前多指畸形是第二常见的先天性手部异常，其病理被认为涉及胚胎发育过程中细胞凋亡的破坏。奶嘴型多指畸形是一种独特的变异类型，其特征为手指软组织严重水肿，据信是由子宫内的物理损伤所致。与文献中的其他病例不同，本病例中重复的拇指自行脱落，无需手术干预。
这是首例报道的伴有VACTERL综合征的奶嘴型拇指重复畸形病例。该病例的出现丰富了关于VACTERL综合征的现有文献。手术切除是奶嘴型多指畸形的首选治疗方法，但也可能自行消退。
