Kikuchi I, Inoue S, Hamada K, Ando H
Pediatr Dermatol. 1985 Nov;3(1):48-53. doi: 10.1111/j.1525-1470.1985.tb00486.x.
Stiff skin syndrome was first documented by Esterly and McKusick. We saw a patient with this disease, as well as another who had a similar condition but a somewhat different histology. These two patients shared heritable stiff skin, restricted joint mobility, and absent mucopolysacchariduria. In stiff skin syndrome, which may have two variants, skin biopsy demonstrates large cells stained metachromatically by toluidine blue. These cells are shaped like dermal melanocytes or rounded cells and their presence may be directly related to the deposition of mucopolysaccharide in the dermis. In some cases they may invade the deeper tissues. Two cases of stiff skin syndrome that were in the Japanese literature are also discussed.
硬皮综合征最早由埃斯特利和麦库西克记录。我们接诊了一名患有这种疾病的患者，以及另一名患有类似病症但组织学表现略有不同的患者。这两名患者都有遗传性硬皮、关节活动受限且无黏多糖尿症。在可能有两种变体的硬皮综合征中，皮肤活检显示有被甲苯胺蓝染成异染性的大细胞。这些细胞的形状类似真皮黑素细胞或圆形细胞，它们的存在可能与黏多糖在真皮中的沉积直接相关。在某些情况下，它们可能会侵入更深层的组织。本文还讨论了日本文献中报道的两例硬皮综合征病例。
