Literature DB >> 1745628

Progressive early dermatologic changes in Hutchinson-Gilford progeria syndrome.

P J Gillar1, C I Kaye, J W McCourt.   

Abstract

We describe evolving dermatologic findings in a male with progeria from age 1 month to 21.5 months. At 18 months of age, irregular pigmentary changes of the abdomen, early occipital alopecia, superficial scalp veins, glyphic nasal tip, absent ear lobules, coarse hair that stands on end, crowded dentition with delayed tooth development, and dystrophic nails permitted the diagnosis of progeria. Radiographs showed evidence of resorption of the distal ends of the clavicles, attenuation of the terminal phalanges, diffuse osteopenia, and fishmouth vertebral bodies, which are typical of this syndrome. Appreciation of the evolution of early dermatologic findings may permit earlier diagnosis of this condition in infants with skin changes.

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Year:  1991        PMID: 1745628     DOI: 10.1111/j.1525-1470.1991.tb00859.x

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


  5 in total

Review 1.  Skin Disease in Laminopathy-Associated Premature Aging.

Authors:  Tomás McKenna; Agustín Sola Carvajal; Maria Eriksson
Journal:  J Invest Dermatol       Date:  2015-07-29       Impact factor: 8.551

2.  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

3.  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

4.  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

Review 5.  Laminopathies; Mutations on single gene and various human genetic diseases.

Authors:  So-Mi Kang; Min-Ho Yoon; Bum-Joon Park
Journal:  BMB Rep       Date:  2018-07       Impact factor: 4.778

  5 in total

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