Criado Germán Rodríguez, González-Meneses Antonio, Cañadas Manuela, Rafel Enrique, Yanes Francisco, De Terreros Ignacio Gómez
Dysmorphology Unit, Hospitales Universitarios Virgen del Rocío, Sevilla, Spain.
Am J Med Genet A. 2004 Sep 1;129A(3):282-5. doi: 10.1002/ajmg.a.30117.
Infantile systemic hyalinosis (ISH) is a presumed autosomal recessive connective tissue condition. Symptoms usually begin at birth or shortly thereafter, and are characterized by pain when handled, painful and swollen joints and, later on, dermal anomalies, diarrhea, failure to thrive and recurrent infections, which usually lead to death around the age of 2. The skin has generally diminished elasticity with small pearly papules appearing on neck, ears, coccygeal region, and face. We present two unrelated patients with ISH, with specific focus on clinical and pathologic studies. In the first patient the diagnosis was made several years after she died, in a retrospective study of her clinical file. On ultrastructural examination both patients showed an accumulation of fibrillogranular material in the extracellular matrix with long-spacing collagen of 90 nm. The first child died at the age of 1(1/2) years and the second at 3 years.
婴儿全身性透明变性（ISH）是一种推测为常染色体隐性遗传的结缔组织疾病。症状通常在出生时或出生后不久开始，其特征为触摸时疼痛、关节疼痛和肿胀，随后出现皮肤异常、腹泻、生长发育迟缓以及反复感染，这些症状通常会导致患儿在2岁左右死亡。皮肤弹性普遍降低，颈部、耳部、尾骨区域和面部会出现小的珍珠样丘疹。我们报告了两名患ISH的非亲属患者，并特别关注了临床和病理研究。在首例患者中，对其临床档案进行回顾性研究时，诊断是在她去世几年后做出的。超微结构检查显示，两名患者的细胞外基质中均有纤维颗粒物质积聚，存在90纳米的长间距胶原。第一名患儿在1岁半时死亡，第二名患儿在3岁时死亡。
