Wisuthsarewong W, Viravan S
Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
J Med Assoc Thai. 1999 Jan;82(1):96-102.
Hutchinson-Gilford progeria syndrome is an extremely rare condition of premature aging. It is characterized by growth retardation and accelerated degenerative changes of cutaneous, musculoskeletal and cardiovascular systems. The pathogenesis of the disease is unknown. The patients usually appear normal at birth. Typical manifestations develop gradually and are evident by the first or second year of life. They have a remarkably similar physical appearance consisting of short stature, alopecia, craniofacial disproportion, micrognathia, hypoplastic mandible, beak-like nose, decreased subcutaneous fat, atrophic skin, sclerodermoid lesion, mottling hyperpigmentation, prominent scalp veins, prominent eyes, protruding ears with absence of earlobes, faint midfacial cyanosis, delayed closure of fontanelles and sutures, delayed dentition, horse-riding stance, thin limbs with prominent stiff joints, coxa valga, skeletal hypoplasia and dysplasia, dystrophic nails and high-pitched voice. Laboratory investigations are unremarkable. Metabolic, endocrine, serum lipid and immunologic studies show no uniform abnormalities. Typical radiographs demonstrate evidence of resorption of the distal ends of clavicles, attenuation of the terminal phalanges, diffuse osteopenia, and fishmouth vertebral bodies. In this report, a 3-year-old Thai girl with typical characteristics of Hutchinson-Gilford progeria syndrome is described.
哈钦森-吉尔福德早衰综合征是一种极为罕见的早衰病症。其特征为生长发育迟缓以及皮肤、肌肉骨骼和心血管系统加速出现退行性变化。该病的发病机制尚不清楚。患者出生时通常外观正常。典型表现逐渐显现，在出生后第一年或第二年较为明显。他们有着极为相似的外貌，包括身材矮小、脱发、颅面比例失调、小颌畸形、下颌发育不全、喙状鼻、皮下脂肪减少、皮肤萎缩、硬皮病样病变、色素沉着斑、头皮静脉突出、眼睛突出、耳朵突出且无耳垂、面部中部轻度发绀、囟门和缝线闭合延迟、出牙延迟、骑马姿势、四肢纤细且关节僵硬突出、髋外翻、骨骼发育不全和发育异常、指甲营养不良以及嗓音高亢。实验室检查无明显异常。代谢、内分泌、血脂和免疫学研究均未显示出一致的异常情况。典型的X线片显示锁骨远端吸收、指骨末端变细、弥漫性骨质减少以及鱼口状椎体的证据。在本报告中，描述了一名具有哈钦森-吉尔福德早衰综合征典型特征的3岁泰国女孩。
