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

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Abstract

We present a 7-week-old male infant with pseudoscleroderma as a primary manifestation of the Hutchinson-Gilford syndrome of premature aging. He had suffered intra-uterine growth retardation; micrognathism and a cleft palate were evident at birth. He presented with feeding difficulties and severe, diffuse scleroderma-like lesions, a faint peri-oral cyanosis and prominent scalp veins. With time, special facial features became more and more apparent: frontal bossing, prominent eyes, thin and fine nose and lips, microstomia, low-set ears and occipito-parietal alopecia. Histopathology of the skin showed an increased density and thickness of collagen in the dermis and hypodermis. Within the 1st year of life, typical skeletal characteristics were observed. The diagnosis of Hutchinson-Gilford syndrome was confirmed by analysis of the lamin A gene, revealing a heterozygous c.1824C>T (G608G) mutation. Conclusion:Hutchinson-Gilford syndrome is an extremely rare disorder of which the full clinical spectrum becomes evident with time. Sclerodermatous changes in the infant can be the first manifestation.

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Abbreviations

HGPS :

Hutchinson-Gilford progeria syndrome

LMNA :

lamin A gene

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Authors and Affiliations

  1. Department of Paediatrics, University Hospital Leuven, Herestraat 49, 3000 , Leuven, Belgium

    Lieve Sevenants, Carine Wouters & Hugo Devlieger

  2. Génétique Médicale et Développement, Faculté de Médecine de la Timone, Marseille, France

    Annachiara De Sandre-Giovannoli & Nicolas Lévy

  3. Centre for Human Genetics, University Hospital Leuven, Leuven, Belgium

    Koen Devriendt

  4. Department of Pathology, University Hospital Leuven, Leuven, Belgium

    Joost J. van den Oord

  5. Department of Dermatology, University Hospital Leuven, Leuven, Belgium

    Karel Marien & Marie-Anne Morren

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  1. Lieve Sevenants
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  2. Carine Wouters
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  3. Annachiara De Sandre-Giovannoli
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  4. Hugo Devlieger
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  5. Koen Devriendt
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  6. Joost J. van den Oord
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  7. Karel Marien
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  8. Nicolas Lévy
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  9. Marie-Anne Morren
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Correspondence to Lieve Sevenants.

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Sevenants, L., Wouters, C., De Sandre-Giovannoli, A. et al. Tight skin and limited joint movements as early presentation of Hutchinson-Gilford progeria in a 7-week-old infant. Eur J Pediatr 164, 283–286 (2005). https://doi.org/10.1007/s00431-005-1635-x

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  • DOI: https://doi.org/10.1007/s00431-005-1635-x

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