Child F J, Werring D J, Vivier A W
Department of Dermatology, King's College Hospital, Denmark Hill, London, U.K.
Br J Dermatol. 1998 Jul;139(1):132-6. doi: 10.1046/j.1365-2133.1998.02330.x.
We describe a 24-year-old woman with many of the classical features of the Proteus syndrome. In childhood she had undergone bilateral forefoot amputations because of massive bilateral cerebriform hypertrophy of the feet. Other features include abnormally large fingers on one hand, a lymphangioma circumscriptum, an epidermal naevus, prominent venous varicosities and scattered lipomas. The disorder occurs sporadically and is thought to be secondary to a postzygotic mutation that survives by mosaicism.
我们描述了一名患有许多变形综合征典型特征的24岁女性。童年时期，由于双脚出现大量脑回状肥大，她接受了双侧前足截肢手术。其他特征包括一只手的手指异常粗大、局限性淋巴管瘤、表皮痣、明显的静脉曲张和散在的脂肪瘤。这种疾病为散发性，被认为是由通过嵌合现象存活下来的合子后突变引起的。
