Al-Najjadah Imad, Bang Rameshwar L, Ghoneim Ibrahim E, Kanjoor James R
Al Babtain Center for Plastic Surgery and Burns, Faculty of Medicine, Kuwait University, Kuwait.
J Craniofac Surg. 2003 Sep;14(5):719-23. doi: 10.1097/00001665-200309000-00022.
Infantile systemic hyalinosis (ISH) is a rare familial autosomal recessive disease of unknown etiology. The clinical features are evident either at birth or within 6 months of life. The presentation is painful progressive joint contractures, thickened skin with hyperpigmentation over prominences, small pearly facial papules, gingival hypertrophy, fleshy nodules in the perianal region, diarrhea, increased susceptibility to bone fractures, infections, and failure to thrive. This is a progressive disorder that may lead to death within first 2 years of life, mostly due to recurrent chest infection and diarrhea. Two patients with ISH, one aged 14 years and another aged 10 years, with all the clinical features, though crippled but surviving, were seen at our center. Debulking of hypertrophic gingiva and excision of some symptomatic skin masses in these patients are indicated for comfort and smooth nursing care of the patients and to allow better rehabilitation.
婴儿全身性透明变性（ISH）是一种病因不明的罕见常染色体隐性遗传病。临床特征在出生时或出生后6个月内即可显现。表现为疼痛性进行性关节挛缩、突出部位皮肤增厚伴色素沉着、面部珍珠样小结节、牙龈增生、肛周肉质结节、腹泻、骨折易感性增加、易感染以及生长发育迟缓。这是一种进行性疾病，可能在生命的头两年内导致死亡，主要原因是反复的胸部感染和腹泻。我们中心接诊了两名ISH患者，一名14岁，另一名10岁，他们具备所有临床特征，虽有残疾但存活下来。对这些患者进行肥厚牙龈减容和一些有症状的皮肤肿物切除，有助于患者舒适并便于顺利护理，也能更好地促进康复。
