Al-Mayouf S M, AlMehaidib A, Bahabri S, Shabib S, Sakati N, Teebi A S
Section of Pediatric Rheumatology, Department of Pediatrics, MBC-58, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Clin Exp Rheumatol. 2005 Sep-Oct;23(5):717-20.
We retrospectively reviewed 19 patients (11 male, 8 female) with infantile systemic hyalinosis (ISH) seen at a tertiary care hospital. Fifteen patients (83.3%) presented in the neonatal period. The referral diagnosis was inaccurate in 14 patients (73.7%). Thirteen patients were products of first-degree cousin marriages (68%) and 5 families had more than one affected child. All patients had painful joint contractures and typical mucocutaneous changes (hyper-pigmented sclerodermatous skin over the knuckles and malleoli, gingival hyperplasia, subcutaneous and perianal fleshy nodules). Growth failure was noted in all of them and 39% had profuse diarrhea, 72% had low serum albumin. Radiological findings included osteopenia, periosteal reaction and osteolytic lesions. Tissue biopsy was consistent with the diagnosis in the 8 patients who had the biopsies. Despite aggressive management with physiotherapy and different medications (including NSAIDs, penicillamine and methotrexate), the disorder was progressive and none of them showed improvement. 16 patients died with a mean age of 11 months and only 3 are alive with a mean age of 20 months. This report represents the largest series of ISH. Our data suggests that ISH is a commonly diagnosed disorder in Saudi Arabia and among Arabs.
我们回顾性研究了一家三级护理医院收治的19例婴儿全身性透明变性（ISH）患者（11例男性，8例女性）。15例患者（83.3%）在新生儿期就诊。14例患者（73.7%）的转诊诊断不准确。13例患者为一级表亲通婚的后代（68%），5个家庭有不止一个患病儿童。所有患者均有疼痛性关节挛缩和典型的黏膜皮肤改变（指关节和内踝处色素沉着的硬皮样皮肤、牙龈增生、皮下和肛周肉质结节）。所有患者均有生长发育迟缓，39%有大量腹泻，72%血清白蛋白水平低。影像学表现包括骨质减少、骨膜反应和溶骨性病变。8例行组织活检的患者，活检结果与诊断一致。尽管采用了积极的物理治疗和不同药物（包括非甾体抗炎药、青霉胺和甲氨蝶呤）治疗，病情仍呈进行性发展，无一例有改善。16例患者死亡，平均年龄11个月，仅3例存活，平均年龄20个月。本报告是最大系列的ISH病例。我们的数据表明，ISH在沙特阿拉伯和阿拉伯人群中是一种常见的诊断疾病。
