Landing B H, Nadorra R
Pediatr Pathol. 1986;6(1):55-79. doi: 10.3109/15513818609025925.
Four female Mexican-American infants, two siblings, had widespread deposit of hyaline material in skin, gastrointestinal tract, adrenals, urinary bladder, ovaries, skeletal muscles, thymus, parathyroids, and other loci. Clinical features included thickness and focal nodularity of skin, relatively short limbs and neck, gum hypertrophy, hypotonia and reduced movement, joint contractures, osteoporosis, growth failure, diarrhea, and recurrent infections. Clinical onset was in the first week, and all 4 patients died by age 20 months. Infantile systemic hyalinosis appears to be a specific, presumably autosomal recessive, genetic disease, differing from the disorder called systemic hyalinosis, juvenile hyaline fibromatosis, or Puretic syndrome. The biochemical defect and the pathogenetic mechanisms responsible for the pathologic and clinical features of this condition remain to be established.
四名墨西哥裔美国女婴（其中两名是姐妹）在皮肤、胃肠道、肾上腺、膀胱、卵巢、骨骼肌、胸腺、甲状旁腺和其他部位有广泛的透明物质沉积。临床特征包括皮肤增厚和局灶性结节、四肢和颈部相对较短、牙龈肥大、肌张力减退和活动减少、关节挛缩、骨质疏松、生长发育迟缓、腹泻和反复感染。临床症状在第一周出现，所有4例患者均在20个月龄前死亡。婴儿系统性透明变性似乎是一种特定的、可能为常染色体隐性遗传的疾病，与称为系统性透明变性、青少年透明纤维瘤病或普雷蒂克综合征的疾病不同。导致这种疾病病理和临床特征的生化缺陷和发病机制仍有待确定。
