Happle R, Steijlen P M, Theile U, Karitzky D, Tinschert S, Albrecht-Nebe H, Küster W
Department of Dermatology, Philipp University, Marburg, Germany.
Arch Dermatol. 1997 Jan;133(1):77-80.
The diagnostic criteria of Proteus syndrome include various lesions of localized overgrowth such as digital gigantism, hemihyperplasia with unilateral macrocephaly, epidermal nevus, and mesodermal hamartomas such as lipoma, lymphangioma, hemangioma, or fibroma. Hyperplasia of the plantar dermal tissue may result in a characteristic cerebriform appearance. However, hypoplastic lesions involving various tissues such as subcutaneous fat or muscles also may be observed in this syndrome. This paradoxical phenomenon has so far been underestimated, and the presence of circumscribed lesions of dermal hypoplasia has been entirely ignored.
We report 4 cases of Proteus syndrome associated with large patches of dermal hypoplasia, resulting in a more prominent appearance of venous vasculature.
Patchy dermal hypoplasia appears to be a characteristic feature within the spectrum of Proteus syndrome. The anomaly should not be confused with partial lipohypoplasia that may likewise be associated with this multisystem birth defect. From a review of the literature, we conclude that patchy dermal hypoplasia may have occurred in several previous cases. In the future, recognition of this cutaneous anomaly may help to establish the diagnosis in otherwise doubtful cases. To explain the coexistence of lesions of dermal hyperplasia and hypoplasia, we propose the genetic concept of "twin spotting." At the gene locus of Proteus syndrome the embryo would carry 1 allele giving rise to dermal overgrowth, whereas the corresponding allele would be responsible for a diminished proliferation of cutaneous fibroblasts. Somatic recombination may result in 2 different populations of cells homozygous for either allele.
变形综合征的诊断标准包括局部过度生长的各种病变，如指端巨大症、伴有单侧巨头畸形的半侧肥大、表皮痣，以及中胚层错构瘤，如脂肪瘤、淋巴管瘤、血管瘤或纤维瘤。足底真皮组织增生可能导致特征性的脑回状外观。然而，该综合征中也可能观察到涉及皮下脂肪或肌肉等各种组织的发育不全性病变。这种矛盾的现象迄今一直被低估，而局限性真皮发育不全病变的存在则完全被忽视。
我们报告了4例与大片真皮发育不全相关的变形综合征病例，导致静脉血管系统外观更明显。
片状真皮发育不全似乎是变形综合征谱系中的一个特征性表现。这种异常不应与同样可能与这种多系统出生缺陷相关的部分脂肪发育不全相混淆。通过对文献的回顾，我们得出结论，片状真皮发育不全可能在之前的几例病例中出现过。未来，认识到这种皮肤异常可能有助于在其他可疑病例中确立诊断。为了解释真皮增生和发育不全病变的共存，我们提出了“双斑点”的遗传学概念。在变形综合征的基因位点上，胚胎将携带1个导致真皮过度生长的等位基因，而相应的等位基因则负责皮肤成纤维细胞增殖减少。体细胞重组可能导致两种不同的细胞群体，它们分别对任一等位基因纯合。
