Isidor B, Baujat G, Le Caignec C, Pichon O, Martin-Coignard D, Toutain A, David A
Centre Hospitalier Universitaire de Nantes, France.
Am J Med Genet A. 2009 Aug;149A(8):1734-9. doi: 10.1002/ajmg.a.32796.
Congenital skin pedicles are very rare and usually described in association with multiple congenital anomalies. Here, we report on six patients with congenital pedicle skin hamartomatous lesions. Two patients showed a single skin pedicle lesion, one of whom was also shown to have 22q11.2 microdeletion syndrome, and four patients also had severe limb anomalies for which they were originally diagnosed with amniotic band sequence (ABS). We propose that all these infants instead show various forms of the phenotype resembling disorganization in the mouse. This article supports previous reports suggesting that "Disorganization-like" mutations may cause cases with apparent ABS. Owing to these reports, we propose the hypothesis that hamartomatous skin pedicles and "ABS plus" are different phenotypes of the human disorder resembling disorganization.
先天性皮肤蒂非常罕见，通常与多种先天性异常相关。在此，我们报告6例先天性蒂状皮肤错构瘤性病变患者。2例患者表现为单个皮肤蒂病变，其中1例还被证实患有22q11.2微缺失综合征，4例患者还患有严重肢体异常，最初诊断为羊膜带序列（ABS）。我们提出，所有这些婴儿反而表现出类似于小鼠中无序状态的各种表型形式。本文支持先前的报告，提示“类无序”突变可能导致明显的ABS病例。基于这些报告，我们提出假说，即错构瘤性皮肤蒂和“ABS加”是人类类似于无序状态疾病的不同表型。
