China
Africa
Explore chapters and articles related to this topic
Summary and Development of a New Approach to Senescence
Published in Nate F. Cardarelli, The Thymus in Health and Senescence, 2019
Progeria, like other maladies such as acromegaly and acrogeria, affects only a certain compartment of the body. Acromegaly is basically bone structure abnormality, and acrogeria is premature aging of the skin (with gynecomastia, bone deformities, and mental retardation).99,100
Atypical presentation of forearm compartment syndrome in a case of vascular type Ehlers–Danlos syndrome
Published in Case Reports in Plastic Surgery and Hand Surgery, 2023
Tsang Yeung, Ching San Esther Chow
Ehlers–Danlos syndrome (‘EDS’) is a group of hereditary connective tissue disorders, caused by various defects in the synthesis of collagen. Its overall prevalence lies between 1 in 10,000 to 25,000 in the general population [1]. EDS has different subtypes. Type IV or the vascular type Ehlers–Danlos Syndrome (‘vEDS’), described by Andras Barbaras [2] in 1967, consists of 5 to 10% of EDS [1]. It is due to pathogenic variants in COL3A1 gene and it is inherited in an autosomal dominant manner. Due to defects in type III collagen, body tissues and organs of patients with vEDS are fragile. Signs of vEDS include: characteristic facial appearance (thin vermilion of lips, small chin, thin nose, large eyes), acrogeria (skin on the hands and feet appears prematurely aged) and thin translucent skin [3]. In a majority of patients, the diagnosis was only made when there is at least one major complication happened, which is defined as arterial rupture, dissection or organ rupture, like sigmoid colon perforation and perforated gravid uterus The risk of having complication at age of 20 is 25% and rises to more than 80% by age of 40. The average age at the time of the first major complication was 23.5 years old. Median life expectancy of patient with vEDS is 48 years [4].
Vascular manifestations and kyphoscoliosis due to a novel mutation of PLOD1 gene
Published in Acta Cardiologica, 2021
Piotr Zieminski, Jessie Risse, Anne Legrand, Virginie Dufrost, Laurence Bal, Nicla Settembre, Sergueï Malikov, Xavier Jeunemaitre, Denis Wahl, Stéphane Zuily
A 42-years-old woman was admitted for a spontaneous dissection of the terminal abdominal aorta (Figure 1, panel A, arrow), associated with an arteriovenous fistula between the false channel of left iliac artery and inferior vena cava (Figure 1, panel B, arrow and panel C, cross). Additionally, the computed tomography (CT) angiogram revealed dysplastic renal arteries (Figure 1, panel C, arrows) and kyphoscoliosis. Past medical history included a symptomatic left vertebral dissection during the peripartum period and a spontaneous right renal artery dissection at 28 years-old. Besides, she suffered from muscular hypotonia with joint hyperlaxity at birth. She walked at 21 months, developed scoliosis during her childhood and had surgery for bilateral shoulders recurrent luxations. Clinically, her skin was thin and translucent, with acrogeria and papyraceous scares on knees. Beighton score was 5/9. This presentation suggested an Ehlers Danlos Syndrome (EDS) with skeletal and vascular involvement. Thus, she received exclusively medical treatment with strict bed rest, blood pressure control and β-blocker (celiprolol). Three years later, there was no new vascular event and CT angiogram did not reveal any aneurysmal evolution. Genetic testing identified a compound heterozygosity in PLOD1 gene, confirming a kyphoscoliotic EDS (kEDS): duplication of exons 10 to 16, found in 20% of kEDS patients and a novel nonsense variant in exon 18 p.(Gln636Ter). This observation emphasises the importance of identifying kEDS in case of vascular abnormalities (dissection, aneurysm) associated with kyphoscoliosis. Vascular prognosis and soft tissue fragility are as severe as in the vascular EDS related to COL3A1 gene mutations, requiring non-invasive treatment.