Clinical and genetic features of children with Hutchinson‐Gilford progeria syndrome: a case series and a literature review

Wang, S; Yang, Zhong-Jin; Xu, Zhe; Chu, Yan; Liang, Yuan; Wei, Liya; Zhang, B; Ma, Lin

doi:10.1111/jdv.17174

Cited by 4 publications

(6 citation statements)

References 5 publications

(9 reference statements)

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“…These symptoms were essential to make a diagnosis of HGPS. Genetic detection confirmed the diagnosis when the patient was 6 months old, much earlier than 2–3 years in most articles, but later than three months reported by S. Wang et al in China [ 3 ]. When the patient was analyzed retrospectively, it was found that subcutaneous adipose tissue was thinner than a normal infant at the first visit.…”

Section: Discussionmentioning

confidence: 59%

“…The initial manifestation of reported HGPS patients was mostly sclerotic skin, which appeared as early as one month after birth. Other clinical manifestations always gradually progressed depending on age [ 3 , 13 , 14 ]. The primary clinical diagnosis of this baby was Pierre Robin sequence (PRS), characterized by micrognathia, glossoptosis, and upper airway obstruction.…”

Section: Discussionmentioning

confidence: 99%

“…HGPS is mainly characterized by accelerating aging, causing multi-system alterations such as severe growth retardation, characteristic skin manifestation, and complications of cardiovascular and cerebral ischemic disease. It is reported that the average life expectancy of HGPS patients was about 14 years, while cardiovascular complications have been reported as the leading cause of death [ 3 ]. HGPS is still poorly recognized because of its rarity.…”

Section: Introductionmentioning

confidence: 99%

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An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review

Xu,

Guo,

et al. 2023

Heliyon

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Section: Discussionmentioning

confidence: 59%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review

Xu,

Guo,

et al. 2023

Heliyon

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“…Although it is believed that there is no difference in the disease incidence rate and phenotypes by race 7,17) , there are relatively few reports from Asia and Africa. Four Japanese and nine Chinese cases were well described by Sato-Kawano et al and Wang et al, respectively 18,19) . Also, patients in Africa were reported by two case studies 20,21) .…”

Section: Cardiovascular Phenotypes In Hgps Mouse Modelsmentioning

confidence: 89%

Atherosclerosis and Cardiovascular Diseases in Progeroid Syndromes

Kato

Maezawa

2022

JAT

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Hutchinson-Gilford progeria syndrome (HGPS) and Werner syndrome (WS) are two of the representative genetic progeroid syndromes and have been widely studied in the field of aging research. HGPS is a pediatric disease in which premature aging symptoms appear in early childhood, and death occurs at an average age of 14.5 years, mainly due to cardiovascular disease (CVD). Conversely, WS patients exhibit accelerated aging phenotypes after puberty and die in their 50s due to CVD and malignant tumors. Both diseases are models of human aging, leading to a better understanding of the aging-associated development of CVD. In this review, we discuss the pathogenesis and treatment of atherosclerotic diseases presented by both progeroid syndromes with the latest findings. Hutchinson-Gilford Progeria SyndromeHGPS is an ultra-rare autosomal dominant genetic premature aging syndrome that occurs in one in four to eight million births and causes death at an average age of 14.5 years due to myocardial infarction or stroke 4, 5) (Table 1). Because of the abnormal splicing of the LMNA gene on chromosome 1, the lamin A protein encoded by this gene cannot be normally produced, and an abnormal protein called progerin accumulates in the nucleus. The main symptoms are scleroderma-like skin, joint contractures, bone abnormalities, hair loss, growth retardation, and atherosclerotic diseases, such as myocardial infarction and stroke. Clinical Characteristics of HGPSInfants with HGPS are normal at birth, but the mean weight is slightly small for gestational age 4) . The first pathognomonic signs are prominent veins on the nose bridge, followed by growth retardation, hair loss, and reduced subcutaneous fat around 6 to 12 months, and the diagnosis is often made between 2 and 3 years Copyright©2021 Japan Atherosclerosis Society This article is distributed under the terms of the latest version of CC BY-NC-SA defined by the Creative Commons Attribution License.

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“…The bilateral nipples and the labia majora are not initially affected in these cases, leading to the appearance of the so-called 'protruding bikini sign'. 4 Few other articles mentioned sclerotic skin: Grana et al 5 described a 30-month-old patient with lipodystrophy and scleroderma, and Zhang et al 6 described two girls who developed sclerotic skin at 3 and 8 months of age, with the second patient also presenting the protruding bikini sign.…”

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confidence: 99%

Hardened skin can be an early indicator of premature ageing: A case report of the progeria syndrome

Pasa Morgan,

de Oliveira,

Gomes

et al. 2024

Acta Paediatrica

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Hutchinson-Gilford progeria syndrome (HGPS) is a rare and sporadic disease that causes premature ageing during childhood. It affects both sexes, with an estimated prevalence of one in 18-20 million. 1This case report describes a girl who first presented with skin hardening and pseudo-cellulitis in the lower limbs and buttocks, along with protruding labia majora, at 3 months of age (Figures 1A,B).These had been noticeable since the 50th day of life. She was the only child of non-consanguineous parents and was born at full term, after adequate prenatal care and a normal pregnancy and delivery. There had not been any similar cases in her family. Stiff

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Clinical and genetic features of children with Hutchinson‐Gilford progeria syndrome: a case series and a literature review

Cited by 4 publications

References 5 publications

An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review

An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review

Atherosclerosis and Cardiovascular Diseases in Progeroid Syndromes

Hardened skin can be an early indicator of premature ageing: A case report of the progeria syndrome

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