Girard C, Bessis D, Guillot B
Service de Dermatologie, Hôpital Saint-Eloi, CHU Montpellier.
Ann Dermatol Venereol. 2006 Apr;133(4):349-52. doi: 10.1016/s0151-9638(06)70913-9.
Macrocephaly-cutis marmorata telangiectatica congenita is a multiple congenital anomaly/mental retardation syndrome described in 1997 in children with macrocephaly, cutis marmorata telangiectatica congenita and several other abnormalities.
A six month-old boy was seen for hyperplasia of the right side of the body. Clinical examination disclosed overgrowth, macrocephaly, a generalized reticulated, blue-violet vascular network, partial bilateral syndactyly between the 2nd and 3rd toes, and several superficial capillary malformations. Psychomotor development was normal. Brain MRI showed enlargement of the right lateral ventricle and hemisphere in relation to the left side but without malformation. Radiological examination of the skeleton showed asymmetry of the limbs.
The patient reported herein presented macrocephaly-cutis marmorata telangiectatica congenita syndrome characterized by macrocephaly and more than two of the main reported findings comprising cutis marmorata, superficial vascular anomaly, syndactyly and asymmetry. We set out the major components of this polymalformative syndrome that are rarely reported in the dermatologic literature.
先天性大理石样皮肤毛细血管扩张性巨脑综合征是1997年描述的一种多发性先天性异常/智力发育迟缓综合征，见于患有巨脑、先天性大理石样皮肤毛细血管扩张及其他几种异常的儿童。
一名6个月大男童因身体右侧增生前来就诊。临床检查发现其身体过度生长、巨脑、全身性网状蓝紫色血管网、双侧第2和第3趾部分并指以及多处浅表性毛细血管瘤。精神运动发育正常。脑部磁共振成像显示右侧脑室和半球相对于左侧增大，但无畸形。骨骼放射学检查显示四肢不对称。
本文报告的患者表现为先天性大理石样皮肤毛细血管扩张性巨脑综合征，其特征为巨脑以及超过两项主要报告发现，包括大理石样皮肤、浅表血管异常、并指和不对称。我们阐述了这种多畸形综合征的主要组成部分，这些在皮肤病学文献中鲜有报道。
