Jablonska S, Schubert H, Kikuchi I
Department of Dermatology, Warsaw School of Medicine, Poland.
J Am Acad Dermatol. 1989 Nov;21(5 Pt 1):943-50. doi: 10.1016/s0190-9622(89)70280-2.
Four patients are described with stony-hard induration of the skin and deeper tissues, most pronounced on the buttocks, thighs, and legs, and with limitation of joint mobility and contractures of the lower limbs. Two patients were siblings and one was the product of a consanguineous marriage. The disorder appears to be genetically determined, but the mode of inheritance has not been established. The disease was noticed in the patients' early infancy and was not progressive. Except for functional impairment of the lungs caused by an underdeveloped thorax that resulted from pressure of the thickened thoracic fascia, there was no involvement of the viscera or muscles and no immunologic abnormalities. The most important finding was markedly thickened fascia. This hereditary connective tissue disorder has all the characteristics of the tight-skin mouse.
本文描述了4例患者，其皮肤及深层组织呈石样坚硬硬结，最明显见于臀部、大腿和小腿，伴有关节活动受限及下肢挛缩。其中2例患者为 siblings，1例为近亲结婚的后代。该疾病似乎由基因决定，但遗传方式尚未明确。疾病在患者婴儿早期即被发现，且无进展。除了因增厚的胸筋膜压迫导致胸廓发育不全而引起肺部功能损害外，未累及内脏或肌肉，也无免疫异常。最重要的发现是筋膜明显增厚。这种遗传性结缔组织疾病具有紧皮小鼠的所有特征。
