Basel-Vanagaite Lina, Sprecher Eli, Gat Andrea, Merlob Paul, Albin-Kaplanski Adi, Konen Osnat, Solomon Benjamin D, Muenke Maximilian, Grzeschik Karl-H, Sirota Lea
Schneider Children's Medical Center of Israel and Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel.
Pediatr Dermatol. 2012 Jan-Feb;29(1):89-95. doi: 10.1111/j.1525-1470.2011.01403.x. Epub 2011 Oct 13.
Congenital circumferential skin folds can be found in individuals with no additional defects, as well as in patients with multiple congenital anomalies and developmental abnormalities. Current data point to etiological heterogeneity of syndromic cases. We describe a 7-month-old girl with a novel combination of symmetrical congenital circumferential skin folds, dysmorphic features, and multiple congenital abnormalities. Examination of the patient revealed symmetrical congenital circumferential skin folds and dysmorphic features, as well as multiple congenital anomalies including nasal pyriform aperture stenosis, ventricular septal defect, absent spleen, camptodactyly, and severe psychomotor retardation. Skin biopsy demonstrated subcutaneous fat extending into the superficial and deep reticular dermis. Sequencing of the CDON, SHH, ZIC2, SIX3, and TGIF genes (associated with holoprosencephaly) did not disclose pathogenic alterations. Extensive review of previously described cases of syndromic congenital circumferential skin folds did not reveal a similar combination of clinical and histopathological findings.
先天性环形皮肤褶皱可见于无其他缺陷的个体，也可见于患有多种先天性异常和发育异常的患者。目前的数据表明综合征病例存在病因异质性。我们描述了一名7个月大的女孩，她具有对称性先天性环形皮肤褶皱、畸形特征和多种先天性异常的新组合。对该患者的检查发现了对称性先天性环形皮肤褶皱和畸形特征，以及多种先天性异常，包括鼻梨状孔狭窄、室间隔缺损、无脾、屈曲指畸形和严重精神运动发育迟缓。皮肤活检显示皮下脂肪延伸至浅表和深部网状真皮。对与前脑无裂畸形相关的CDON、SHH、ZIC2、SIX3和TGIF基因进行测序未发现致病改变。对先前描述的综合征性先天性环形皮肤褶皱病例进行广泛回顾，未发现类似的临床和组织病理学表现组合。
