Literature DB >> 10990576

Progeria infantum (Hutchinson-Gilford syndrome) associated with scleroderma-like lesions and acro-osteolysis: a case report and brief review of the literature.

T Jansen1, R Romiti.   

Abstract

Progeria infantum (Hutchinson-Gilford syndrome) is a very rare syndrome of premature aging characterized by growth retardation and specific, progressive, premature senescent changes of the skin and other tissues. We report a 1.5-year-old girl with loss of scalp hair, eyebrows, and lashes, prominent scalp veins, micrognathia, abnormal ears, loss of subcutaneous tissue, and scleroderma-like areas over the trunk. Radiographic studies revealed coxa valga and acro-osteolysis of the terminal phalanges. The clinical and radiologic features corresponded well with progeria infantum.

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Year:  2000        PMID: 10990576     DOI: 10.1046/j.1525-1470.2000.01775.x

Source DB:  PubMed          Journal:  Pediatr Dermatol        ISSN: 0736-8046            Impact factor:   1.588


  7 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.  Initial cutaneous manifestations of Hutchinson-Gilford progeria syndrome.

Authors:  Jillian F Rork; Jennifer T Huang; Leslie B Gordon; Monica Kleinman; Mark W Kieran; Marilyn G Liang
Journal:  Pediatr Dermatol       Date:  2014-01-24       Impact factor: 1.588

4.  Atypical presentation of scleroderma in infancy.

Authors:  Navin Mishra; Devendra Shrestha; Rakesh Babu Poudyal; K C Shiva Raj
Journal:  Rheumatol Int       Date:  2011-02-16       Impact factor: 2.631

5.  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

6.  Epidermal expression of the truncated prelamin A causing Hutchinson-Gilford progeria syndrome: effects on keratinocytes, hair and skin.

Authors:  Yuexia Wang; Andrey A Panteleyev; David M Owens; Karima Djabali; Colin L Stewart; Howard J Worman
Journal:  Hum Mol Genet       Date:  2008-04-28       Impact factor: 6.150

7.  Diminished Canonical β-Catenin Signaling During Osteoblast Differentiation Contributes to Osteopenia in Progeria.

Authors:  Ji Young Choi; Jim K Lai; Zheng-Mei Xiong; Margaret Ren; Megan C Moorer; Joseph P Stains; Kan Cao
Journal:  J Bone Miner Res       Date:  2018-08-01       Impact factor: 6.741

  7 in total

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