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

Sevenants, Lieve; Wouters, Carine; Sandre-Giovannoli, Annachiara De; Devlieger, Hugo; Devriendt, Koen; Oord, Joost J. van den; Mariën, K.; Lévy, Nicolas; Morren, Marie‐Anne

doi:10.1007/s00431-005-1635-x

Cited by 20 publications

(18 citation statements)

References 20 publications

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“…15 Neonatal progeria is usually known as Wiedemann-Rautenstrauch syndrome (WRS, MIM number 264090), which is characterized by a progeroid phenotype already apparent after birth. In contrast to HGPS, WRS patients do not have a mutation in the LMNA gene, 11 the genetic defect is still unknown.…”

Section: Discussionmentioning

confidence: 99%

Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn

et al. 2012

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Hutchinson-Gilford progeria syndrome (HGPS) is an important model disease for premature ageing. Affected children appear healthy at birth, but develop the first symptoms during their first year of life. They die at an average age of 13 years, mostly because of myocardial infarction or stroke. Classical progeria is caused by the heterozygous point mutation c.1824C4T in the LMNA gene, which activates a cryptic splice site. The affected protein cannot be processed correctly to mature lamin A, but is modified into a farnesylated protein truncated by 50 amino acids (progerin). Three more variations in LMNA result in the same mutant protein, but different grades of disease severity. We describe a patient with the heterozygous LMNA mutation c.1821G4A, leading to neonatal progeria with death in the first year of life. Intracellular lamin A was downregulated in the patient's fibroblasts and the ratio of progerin to lamin A was increased when compared with HGPS. It is suggestive that the ratio of farnesylated protein to mature lamin A determines the disease severity in progeria.

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Section: Discussionmentioning

confidence: 99%

Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn

et al. 2012

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“…Consistent progressive clinical findings include atrophic epidermis, dermal fibrosis (scleroderma-like with thickening, hyalinization and disorganization of collagen bundles), thin or absent hypodermis and a complete loss of skin appendages or decrease in number of hair follicles and sebaceous glands (Ackerman and Gilbert-Barness, 2002;DeBusk, 1972;Erdem et al, 1994;Gillar et al, 1991;Hutchison et al, 2001;Jansen and Romiti, 2000;Rodriguez et al, 1999;Sevenants et al, 2005;Stables and Morley, 1994;Plasilova et al, 2004) (the GENEReviews' database at www.geneclinics.org). Hypoplastic eccrine glands and spotty skin pigmentation have also been reported (DeBusk, 1972;Jansen and Romiti, 2000).…”

Section: Introductionmentioning

confidence: 99%

Targeted transgenic expression of the mutation causing Hutchinson-Gilford progeria syndrome leads to proliferative and degenerative epidermal disease

Sagelius

Rosengardten

Hanif

et al. 2008

Journal of Cell Science

142

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“…DiVuse scleroderma in infancy-the manifestation of various systemic diseases has been reported in very less numbers [4][5][6]. Hence, it is liable to be misdiagnosed in earlier stage as in this case.…”

Section: Discussionmentioning

confidence: 50%

Atypical presentation of scleroderma in infancy

et al. 2011

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We present a case of a female child who had developed progressive skin tightening of whole body, sclerodactyly, and severe contracture of all joints with restricted opening of mouth with disease onset at 6 weeks of life. The child also had anemia, failure to thrive, recurrent diarrhea, and ascites. Skin biopsy revealed characteristic histopathological features suggestive of scleroderma. Echocardiography revealed thrombus in the right atrium extending to inferior vena cava. Serological markers (antinuclear antibody, antiscl 70, anti-double-stranded DNA, anticentromere antibody) were negative. To our knowledge, this case of scleroderma with disease onset at 6 weeks of life could possibly be among youngest cases reported in the literature. Also, thrombosis in inferior vena cava in a child with scleroderma is being reported for the first time.

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

Abstract: 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.

Cited by 20 publications

References 20 publications

Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn

Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn

Targeted transgenic expression of the mutation causing Hutchinson-Gilford progeria syndrome leads to proliferative and degenerative epidermal disease

Atypical presentation of scleroderma in infancy

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