Progeria in siblings: A rare case report

Sowmiya, R; Prabhavathy, D; Jayakumar, Sivasankar

doi:10.4103/0019-5154.87162

Cited by 9 publications

(8 citation statements)

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“…The earliest feature is growth deficiency in the first year of life. These patients exhibit characteristic facies, alopecia in the first 2 years of life, short stature, sclerodermatous change, reduced subcutaneous fat on the face and limbs, "sculptured nasal tip", easy bruising, progressive mottled hyperpigmentation, prominent scalp veins, and joint deformities [5]. The histopathologic changes in the skin include atrophy of epidermis and dermis.…”

Section: Discussionmentioning

confidence: 99%

“…Najwcześniej pojawiającą się cechą charakterystyczną jest niedobór wzrostu w pierwszym roku życia. Pacjenci mają charakterystyczne twarze, łysienie pojawia się w pierwszych 2 latach życia, wzrost jest niski, obecne są zmiany twardzinopodobne, niedobór podskórnej tkanki tłuszczowej w obrębie twarzy i kończyn, "rzeźbiony" koniec nosa, skłonność do siniaczenia, występują postępujące plamy pigmentacyjne i deformacje stawów, a żyły na skórze głowy są wyraźnie widoczne [5]. Zmiany histopatologiczne skóry obejmują zanik naskórka i skóry właściwej.…”

Section: Conflict Of Interestunclassified

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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%

Section: Conflict Of Interestunclassified

Hutchinson-Gilford progeria syndrome: a rare premature ageing syndrome

Varshney¹,

Adil²,

Amin³

et al. 2020

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“…On histology examination, Skin biopsy showed thinned out epidermis and increased collagen in the mid-dermis. Diagnosis of progeria is basically based on the clinical features and biochemical examination of the patients which shows the short stature with bird-like facies, hair and nail changes and normal intelligence [36].…”

Section: Casementioning

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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“…[1] Clinically, Hutchinson-Gilford Progeria (HGP), the classical type, can be diagnosed on the spot, but at other instances certain exclusions should be done in order to clear out overlaps normally present between HGP and other laminopathies.…”

mentioning

confidence: 99%

“…In reference to the manuscript entitled, “Progeria in siblings: A rare case report” reported by Sowmiya R, et al ., in the Indian J Dermatol 2011:56:581-2. [ 1 ] Clinically, Hutchinson-Gilford Progeria (HGP), the classical type, can be diagnosed on the spot, but at other instances certain exclusions should be done in order to clear out overlaps normally present between HGP and other laminopathies.…”

mentioning

confidence: 99%