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哈钦森-吉尔福德早衰综合征：一例罕见病例报告。

Hutchinson - Gilford progeria syndrome: A rare case report.

作者信息

Kashyap Subhash, Shanker Vinay, Sharma Neeraj

机构信息

Department of Dermatology, Indira Gandhi Medical College, Shimla, Himachal Pradesh, India.

出版信息

Indian Dermatol Online J. 2014 Oct;5(4):478-81. doi: 10.4103/2229-5178.142507.

DOI:10.4103/2229-5178.142507
PMID:25396134
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4228646/
Abstract

Hutchinson - Gilford Progeria Syndrome is a rare genetic disorder characterized by premature aging involving the skin, bones, heart, and blood vessels. We report a three-year-old boy with clinical manifestations characteristic of this syndrome. He had a characteristic "plucked-bird" appearance, prominent eyes and scalp veins, senile look, loss of scalp hair, eyebrows, and eyelashes, stunted growth, and mottled pigmentation with sclerodermatous changes over the trunk and lower limbs. Radiological changes and decreased high-density lipoprotein (HDL) levels were also characteristic of the syndrome. This interesting case is reported for its rarity.

摘要

哈钦森-吉尔福德早衰综合征是一种罕见的遗传性疾病，其特征是皮肤、骨骼、心脏和血管过早衰老。我们报告了一名患有该综合征临床表现的三岁男孩。他具有典型的“拔毛鸡”外观、突出的眼睛和头皮静脉、老年容貌、头皮毛发、眉毛和睫毛脱落、生长发育迟缓，以及躯干和下肢出现硬皮病样改变的斑驳色素沉着。放射学改变和高密度脂蛋白（HDL）水平降低也是该综合征的特征。因该病例罕见，故予以报道。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bdd5/4228646/934f19a993ae/IDOJ-5-478-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bdd5/4228646/aa0a10e218bd/IDOJ-5-478-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bdd5/4228646/63079969c25c/IDOJ-5-478-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bdd5/4228646/88bd48e89f97/IDOJ-5-478-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bdd5/4228646/c2458dc5ae41/IDOJ-5-478-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bdd5/4228646/818025f0bac9/IDOJ-5-478-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bdd5/4228646/212915d79faa/IDOJ-5-478-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bdd5/4228646/934f19a993ae/IDOJ-5-478-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bdd5/4228646/aa0a10e218bd/IDOJ-5-478-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bdd5/4228646/63079969c25c/IDOJ-5-478-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bdd5/4228646/88bd48e89f97/IDOJ-5-478-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bdd5/4228646/c2458dc5ae41/IDOJ-5-478-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bdd5/4228646/818025f0bac9/IDOJ-5-478-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bdd5/4228646/212915d79faa/IDOJ-5-478-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bdd5/4228646/934f19a993ae/IDOJ-5-478-g007.jpg

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Congenital Absence of Hair and Mammary Glands with Atrophic Condition of the Skin and its Appendages, in a Boy whose Mother had been almost wholly Bald from Alopecia Areata from the age of Six.一名男孩先天性毛发和乳腺缺失，伴有皮肤及其附属器萎缩，其母亲自六岁起因斑秃几乎完全秃顶。
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