Hutchinson-Gilford progeria syndrome

Agarwal, Uma Shankar; Sitaraman, Sadasivan; Mehta, Sharad; Panse, Gauri

doi:10.4103/0378-6323.69094

Cited by 10 publications

(10 citation statements)

References 2 publications

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“…Vascular sclerosis with multiple ischemic infarctions, cerebral atrophy, and vascular myelopathy is seen in the central nervous system but intelligence is normal [7]. It is interesting to note that although senile degeneration occurs in HGPS, many features of ageing like presbycusis, presbyopia, cataract, arcus senilis and osteoarthritis are not seen [8]. Differential diagnosis includes pangeria, Rothmund-Thomson syndrome and Cockayne syndrome.…”

Section: Discussionmentioning

confidence: 99%

Hutchinson-Gilford progeria syndrome: a rare premature ageing syndrome

Varshney¹,

Adil²,

Amin³

et al. 2020

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Hutchinson-Gilford progeria syndrome is an extremely rare genetic disorder characterized by premature ageing involving the skin, bones, heart, and blood vessels. The incidence is 1 in several million births. It occurs sporadically and is probably an autosomal dominant syndrome. The diagnosis is essentially clinical and the manifestations become more evident from the first year of life. We report a case of a seven-monthold boy with clinical manifestations characteristic of this syndrome. He had a characteristic "plucked-bird" appearance, prominent eyes and scalp veins, senile look, loss of scalp hair, stunted growth and mottled pigmentation with sclerodermatous changes over the trunk and lower limbs. This interesting case is reported for its rarity. StreSZcZenIe Zespół progerii Hutchinsona-Gilforda to niezwykle rzadki, uwarunkowany genetycznie zespół, który charakteryzuje się przedwczesnym procesem starzenia skóry, kości, serca i naczyń krwionośnych. Częstość występowania wynosi 1 na kilka milionów urodzeń. Zespół występuje sporadycznie i prawdopodobnie jest dziedziczony w sposób autosomalny dominujący. Rozpoznanie opiera się przede wszystkim na ocenie klinicznej, a objawy stają się bardziej widoczne od pierwszego roku życia. Poniższy artykuł przedstawia przypadek siedmiomiesięcznego chłopca z klinicznymi objawami charakterystycznymi dla tego zespołu. Chłopiec miał znamienny wygląd "oskubanego ptaka", tj. nieprawidłowo osadzone oczy, wyraźnie widoczne żyły na skórze głowy, starczy wygląd, nie miał włosów na głowie, przebieg wzrostu był opóźniony, obecne były plamy pigmentacyjne i stwardnienie skóry na tułowiu i kończynach dolnych. Ten interesujący przypadek został opisany ze względu na swoją rzadkość.

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Section: Discussionmentioning

confidence: 99%

Hutchinson-Gilford progeria syndrome: a rare premature ageing syndrome

Varshney¹,

Adil²,

Amin³

et al. 2020

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“…Other related diseases such as Werner syndrome usually presents between 14 and 18 years of age with short stature, immature sexual development, cataract, glaucoma, and sclerodermatous changes. Cockayne syndrome is manifested as facial erythema in butterfly distribution, photosensitivity, ocular defects, and disproportionately large hands and feet, and protruding ears [Agarwal et al, 2010].…”

Section: Discussionmentioning

confidence: 99%

Wiedemann–Rautenstrauch syndrome: Report of a variant case

Kiraz¹,

Özen

Tubaş

et al. 2012

American J of Med Genetics Pt A

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Wiedemann-Rautenstrauch syndrome (WRS) is a rare autosomal recessive disorder that includes premature aging phenotype at birth. The condition is also known as a neonatal progeroid syndrome. Up to now only a few published case reports have been documented. The syndrome is characterized by progeroid appearance, decreased subcutaneous fat, hypotrichosis, macrocephaly, and in some natal teeth. We describe a new patient with features of bilaterally pelvicalyceal ectasia and partial syndactyly on 2th and 3th toes, not previously described, to our knowledge.

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“…It occurs sporadically, with an incidence of 1 in 8 million live births and there are approximately 150 cases described in the medical literature. It predominates in males with a ratio of 1.5:1 and greater susceptibility of Caucasians can be seen in 97% of cases (3). In Korea, 5 cases were reported in the medical literature (4-9).…”

Section: Discussionmentioning

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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Hutchinson-Gilford progeria syndrome

Cited by 10 publications

References 2 publications

Hutchinson-Gilford progeria syndrome: a rare premature ageing syndrome

Hutchinson-Gilford progeria syndrome: a rare premature ageing syndrome

Wiedemann–Rautenstrauch syndrome: Report of a variant case

Hutchinson-Gilford Progeria Syndrome with G608G LMNA Mutation

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