Jablonska S, Blaszczyk M
Department of Dermatology, Warsaw School of Medicine, Warsaw, Poland.
Pediatr Dermatol. 2000 Mar-Apr;17(2):105-10. doi: 10.1046/j.1525-1470.2000.01724.x.
Four patients are described with stone-hard indurations of the skin and subcutaneous tissue, predominantly on the buttocks and thighs, in the areas of the thickest fascia lata and glutealis. All cases were sporadic, started in early infancy, were only slightly or not progressive, and showed no visceral involvement or immunologic abnormalities. In all, the hallmark of the disease was strikingly enlarged fascia. In one patient, typical features developed progressively for 9 years, and in two patients the changes remained abortive, limited to some areas, and not symmetrical. The fourth patient showed some similarity to profound morphea with no cutaneous involvement. Recognition of atypical or abortive cases of congenital fascial dystrophy, which is probably a variant of heterogeneous stiff skin syndrome involving exclusively fascia, is of practical importance, since no therapy is required. However, intensive rehabilitation should start in early infancy and continue throughout life. The genetic defect of molecular organization of collagen in the fascia results in formation of giant amianthoid-like collagen fibrils.
本文描述了4例皮肤和皮下组织呈石样坚硬硬结的患者，主要位于臀部和大腿，即阔筋膜和臀肌最厚的区域。所有病例均为散发性，始于婴儿早期，进展轻微或无进展，未出现内脏受累或免疫异常。总体而言，该病的标志是筋膜显著增厚。1例患者典型特征持续进展9年，2例患者病变呈顿挫型，局限于某些部位且不对称。第4例患者表现出与深部硬斑病相似但无皮肤受累。认识先天性筋膜营养不良的非典型或顿挫型病例（可能是仅累及筋膜的异质性硬皮综合征的一种变异型）具有实际意义，因为无需治疗。然而，强化康复应在婴儿早期开始并持续终身。筋膜中胶原蛋白分子结构的基因缺陷导致形成巨大石棉样胶原纤维。
