Progeria syndrome: A case report

Rastogi, Rajul; Mohan, Sharad

doi:10.4103/0019-5413.38591

Cited by 12 publications

(13 citation statements)

References 7 publications

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“…1,2,3,4 It is characterized by premature aging presenting a rate 7 times higher than the rate of normal aging, causing alterations in many organs and systems, such as the skin, cutaneous tissue, hair cardiovascular and skeletal systems. 1,4,5 The genetic basis was discovered in 2003, with findings of mutation in the gene LMNA, which encodes the Blade A generating production of an aberrant protein called progerin, classifying this disease in the group of the so called laminophaties. Progerin is present in high concentration in the cells of these patients promoting distortion in the nuclear membrane, altering the function of chromatin and therefore reducing life expectancy.…”

Section: Discussionmentioning

confidence: 99%

“…1,3,4,5,6 Carriers of this disease look normal at birth and the first manifestations of the disease can be seen at the end of their first year of life when the weight gain and the growth curve reduce, the skin becomes sclerodermiform and the first signs of alopecia appear. 1,2,4,7 The clinical manifestations are divided into major criteria and signs usually presents itself as follows: the major criteria are a bird-like face (which occurs around 6 months to one year of age), alopecia, prominent veins on the scalp, big eyes, micrognathia, abnormal and slow dentition, pear shaped chest, short clavicles, bow legs (coxa valga), short upper limbs and prominent articulations, low stature and weight with normal bone age, sexual maturation is incomplete, reduction of the adipose tissue and adequate psycho-motor development with normal inteligence. 1,2,4,6,8 Diagnosis is essentially clinical with major criteria appearing during the first and second years of life.…”

Section: Discussionmentioning

confidence: 99%

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Sp²,

Cm³

et al. 2011

An. Bras. Dermatol.

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Huntchinson-Gilford Syndrome (Progeria) is a rare autosomal dominant disease characterized by premature aging. It is reported the case of child whose alopecia started at the age of 6 months on the occipital region. The child also presented scleroderma plaques on the abdomen. This syndrome presents alterations in many organs and systems such as the skin and the skeletal and cardiovascular systems. The diagnosis is clinical and there is no treatment for it but recognition is necessary to minimize early atherosclerosis through the control of dyslipidemia.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Você conhece esta síndrome?

Sp²,

Cm³

et al. 2011

An. Bras. Dermatol.

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“…The Biochemical investigations of the patient were normal except serum cholesterol and urinary excretion of hyaluronic acid both are increased. For the confirmation of the disease, the child was subjected to a skeletal survey [33].…”

Section: Case Report Casementioning

confidence: 99%

“…Diagnosis currently depends upon recognition of clinical and radiographic findings clinical diagnosis can also be established findings-diastasis of the sagittal suture with several wormier bones in the skull; hypoplastic mandible with infantile angle; the presence of fish mouth vertebrae; the occurrence of bilateral coxa valga deformity; resorption of terminal phalanges, etc [33]. The progressive bone loss from the distal phalanxes of the fingers and toes is one of the hallmarks of the disease [12][13][14][15][16][17].…”

Section:  Imaging Studiesmentioning

confidence: 99%

Risk Factors, Prevalence and Diagnosis of Hutchison Gilford Syndrome With Special Reference to Case Reports

Sharma

Joshi

2017

Int J Pharm Pharm Sci

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Progeria also known Hutchinson-Gilford progeria syndrome (HGPS), is an extremely rare genetic disorder. The prevalence of HGPS is 1 in 4-8 million newborns. Progeria causes premature, rapid aging shortly after birth present within the first year of life. Recently, de novo point mutations in the Lmna gene at position 1824 of the coding sequence have been found in persons with HGPS. Lmna encodes lamin A and C, the A-type lamins, which are an important structural component of the nuclear envelope and play a role in protein processing. The most common HGPS mutation is located at codon 608 (G608G). This mutation responsible for creating a cryptic splice site within exon 11, which deletes a proteolytic cleavage site within the expressed mutant lamin A. In Progeria, gene mutation results in the deletion of a Zmpste24/FACE1 splice site in prelamin A, preventing end terminal cleavage. The result of this point mutation can be observed by the main clinical and radiological features include alopecia, thin skin hypoplasia of nails, loss of subcutaneous fat, and osteolysis. The common symptoms of HGPS is a loss of eyebrows and eyelashes which can observed in early childhood and due to receding hairline and blading can also observed. Generally, this patient has facial character include microganthia (small jaw), craniofacial disproportion, prominent eyes, scalp veins and alopecia (loss of hair), restricted joint mobility and severe premature atherosclerosis. Laboratory findings are unremarkable, with the exception of an increased urinary excretion of hyaluronic acid. There is presently no effective therapy is available for Hutchinson-Gilford progeria syndrome (HGPS) but, it is essential to monitor carefully cardiovascular and cerebrovascular disease So, Treatment usually includes low dose aspirin which helps prevent the atherothrombotic events, stroke and heart attacks by hindering platelet aggregation.

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“…It is also known as "Hutchinson-Gilford Progeria syndrome" (1). Although signs and symptoms vary in age of onset and severity, they are remarkably consistent overall.…”

Section: Introductionmentioning

confidence: 99%

Hutchinson-Gilford Progeria Syndrome with G608G LMNA Mutation

et al. 2011

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Hutchinson-Gilford progeria syndrome (HGPS) is a rare condition originally described by Hutchinson in 1886. Death result from cardiac complications in the majority of cases and usually occurs at average age of thirteen years. A 4-yr old boy had typical clinical findings such as short stature, craniofacial disproportion, alopecia, prominent scalp veins and sclerodermatous skin. This abnormal appearance began at age of 1 yr. On serological and hormonal evaluation, all values are within normal range. He was neurologically intact with motor and mental development. An echocardiogram showed calcification of aortic and mitral valves. Hypertrophy of internal layer at internal carotid artery suggesting atherosclerosis was found by carotid doppler sonography. He is on low dose aspirin to prevent thromboembolic episodes and on regular follow up. Gene study showed typical G608G (GGC- > GGT) point mutation at exon 11 in LMNA gene. This is a rare case of Hutchinson-Gilford progeria syndrome confirmed by genetic analysis in Korea.

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Progeria syndrome: A case report

Cited by 12 publications

References 7 publications

Você conhece esta síndrome?

Você conhece esta síndrome?

Risk Factors, Prevalence and Diagnosis of Hutchison Gilford Syndrome With Special Reference to Case Reports

Hutchinson-Gilford Progeria Syndrome with G608G LMNA Mutation

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