Institute of Human Genetics, Heidelberg University, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany.
J Med Genet. 2009 Nov;46(11):721-9. doi: 10.1136/jmg.2009.066068. Epub 2009 Jul 1.
Encephalocraniocutaneous lipomatosis (ECCL) is a sporadically occurring neurocutaneous disorder of unknown aetiology. It has repeatedly been discussed as a localised form of Proteus syndrome. In 2006, the first large series of patients was reported, and diagnostic criteria were proposed.
To better define the phenotypic spectrum and natural history of ECCL and to revise diagnostic criteria.
54 patients with ECCL were reviewed.
Eye anomalies (mainly choristomas) and skin lesions (non-scarring alopecia, naevus psiloliparus, subcutaneous fatty masses, nodular skin tags, aplastic scalp defects) may be unilateral or bilateral and occur in a consistent pattern. Central nervous system anomalies consist of intracranial and intraspinal lipomas, congenital abnormalities of the meninges, and putative focal vascular defects resulting in highly asymmetrical changes. About two-thirds of patients have a normal development or mild retardation only, and half of them have seizures. No correlation between the extent of central nervous system anomalies and neurological features could be established. Aortic coarctation, progressive bone cysts and jaw tumours may be associated.
Revised diagnostic criteria are proposed. ECCL is considered to differ from Proteus syndrome in particular, but oculoectodermal syndrome is possibly a mild variant. Pathogenetically, mosaicism for a mutated autosomal gene involved in multiple mesenchymal tumours and vasculogenesis, with or without a second hit event, is discussed.
颅面皮肤脂肪增多症（ECCL）是一种散发的神经皮肤疾病，病因不明。它曾多次被讨论为 Proteus 综合征的局限性形式。2006 年，首次报道了一系列大型患者，并提出了诊断标准。
更好地定义 ECCL 的表型谱和自然史，并修订诊断标准。
回顾了 54 例 ECCL 患者。
眼部异常（主要为错构瘤）和皮肤病变（非瘢痕性脱发、色素性软垂疣、皮下脂肪肿块、结节性皮肤标签、无发头皮缺损）可能为单侧或双侧，呈一致模式出现。中枢神经系统异常包括颅内和椎管内脂肪瘤、脑膜先天性异常和假定的局灶性血管缺陷，导致高度不对称性改变。约三分之二的患者仅有正常发育或轻度发育迟缓，其中一半有癫痫发作。中枢神经系统异常的程度与神经特征之间没有相关性。可能与主动脉缩窄、进行性骨囊肿和颌骨肿瘤有关。
提出了修订后的诊断标准。ECCL 被认为与 Proteus 综合征不同，特别是与眼皮肤毛发发育不良症不同，但可能是轻度变异。从病理生理学上讲，涉及多种间叶肿瘤和血管生成的突变常染色体基因的镶嵌性，或存在二次打击事件，正在讨论中。
