Literature DB >> 8193408

A case of Hutchinson-Gilford progeria syndrome mimicking scleredema in early infancy.

N Erdem1, A T Güneş, O Avci, E Osma.   

Abstract

We report a case of Hutchinson-Gilford progeria syndrome (HGPS). The patient showed the characteristics of scleredema at the age of 2.5 months but developed all the manifestations of HGPS gradually until 10 months old. The possibility of development of HGPS should by considered in any case of scleredema at birth or in early infancy.

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Mesh：

Year:  1994        PMID： 8193408     DOI： 10.1159/000247175

Source DB:  PubMed          Journal:  Dermatology        ISSN： 1018-8665            Impact factor:   5.366


  5 in total

1.  Tight skin and limited joint movements as early presentation of Hutchinson-Gilford progeria in a 7-week-old infant.

Authors:  Lieve Sevenants; Carine Wouters; Annachiara De Sandre-Giovannoli; Hugo Devlieger; Koen Devriendt; Joost J van den Oord; Karel Marien; Nicolas Lévy; Marie-Anne Morren
Journal:  Eur J Pediatr       Date:  2005-02-22       Impact factor: 3.183

Review 2.  Looking for disease being a model of human aging.

Authors:  I Hausmanowa-Petrusewicz; A Madej-Pilarczyk
Journal:  Acta Myol       Date:  2007-10

3.  LMNA mutations induce a non-inflammatory fibrosis and a brown fat-like dystrophy of enlarged cervical adipose tissue.

Authors:  Véronique Béréziat; Pascale Cervera; Caroline Le Dour; Marie-Christine Verpont; Sylvie Dumont; Marie-Christine Vantyghem; Jacqueline Capeau; Corinne Vigouroux
Journal:  Am J Pathol       Date:  2011-09-21       Impact factor: 4.307

4.  Transient expression of an adenine base editor corrects the Hutchinson-Gilford progeria syndrome mutation and improves the skin phenotype in mice.

Authors:  Daniel Whisenant; Kayeong Lim; Gwladys Revêchon; Haidong Yao; Martin O Bergo; Piotr Machtel; Jin-Soo Kim; Maria Eriksson
Journal:  Nat Commun       Date:  2022-06-02       Impact factor: 17.694

5.  Generation of a Hutchinson-Gilford progeria syndrome monkey model by base editing.

Authors:  Fang Wang; Weiqi Zhang; Qiaoyan Yang; Yu Kang; Yanling Fan; Jingkuan Wei; Zunpeng Liu; Shaoxing Dai; Hao Li; Zifan Li; Lizhu Xu; Chu Chu; Jing Qu; Chenyang Si; Weizhi Ji; Guang-Hui Liu; Chengzu Long; Yuyu Niu
Journal:  Protein Cell       Date:  2020-07-29       Impact factor: 14.870
  5 in total

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