Jablonska S, Groniowski J, Krieg T, Nerlich A, Peltonen L, Oikarinen A, Dabrowski J, Pietrow D
Pediatr Dermatol. 1984 Oct;2(2):87-97. doi: 10.1111/j.1525-1470.1984.tb00453.x.
Our patient's disease was similar to the persons with stiff skin syndrome described by Esterly and McKusick (1). Stony-hard indurations of the skin and deeper tissue were generalized but most pronounced in the buttocks, thighs, and legs, with limitation of joint mobility and particularly extensive contractures in the lower limbs. The disease was noticed when the patient was 18 months old, and was nonprogressive within a follow-up period of 12 years. There was no visceral involvement except functional impairment of the lungs, probably due to thickened thoracic fascia. Biochemical, histologic, and electron microscopic studies of the skin and muscle were not remarkable. In skin fibroblasts, collagen synthesis was increased and was accompanied by elevated activity of the prolylhydroxylase and lysylhydroxylase, whereas the transferases were not altered. The fascia was considerably thickened, but contained no inflammatory infiltrates. The significant electron microscopic finding was the presence of amianthoid-like collagen fibers in the fascia.
我们的患者疾病与埃斯特利和麦库西克（1）所描述的硬皮综合征患者相似。皮肤和深层组织的石样硬硬结普遍存在，但在臀部、大腿和腿部最为明显，伴有关节活动受限，尤其是下肢广泛挛缩。该疾病在患者18个月大时被发现，在12年的随访期内无进展。除了肺部功能受损外，无内脏受累，可能是由于胸筋膜增厚所致。皮肤和肌肉的生化、组织学和电子显微镜检查无明显异常。在皮肤成纤维细胞中，胶原蛋白合成增加，并伴有脯氨酰羟化酶和赖氨酰羟化酶活性升高，而转移酶未改变。筋膜明显增厚，但无炎症浸润。电子显微镜下的显著发现是筋膜中存在石棉样胶原纤维。
