<\/span><\/h2>\nPremature aging syndromes, also known as progeria, include two very rare inherited conditions, Hutchinson-Gilford syndrome<\/span> and Werner syndrome. In both conditions, skin changes that indicate premature aging include:<\/p>\n\n- \nAtrophy<\/span> (thinning of the skin and loss of elasticity)<\/li>\n
- waste of cutaneous<\/span> grease<\/li>\n
- Wrinkles<\/li>\n
- Hoary hair<\/span>\n<\/li>\n
- Hair loss<\/li>\n
- A dystrophy<\/span>\n<\/li>\n
- Defective pigmentation<\/span>\n<\/li>\n
- \nUlceration<\/span>.<\/li>\n<\/ul>\n
These are changes that occur as the normal body ages (see skin aging) but in Progeria, they occur at an accelerated rate.<\/p>\n
<\/span>What are the differences between the types of Progeria?<\/span><\/h2>\n<\/span>Hutchinson-Gilford syndrome<\/span><\/h3>\nHutchinson-Gilford syndrome or<\/span>it occurs in about 1 in 8 million children. Signs of progeria start to appear around 6 to 12 months when the baby does not gain weight and skin changes occur.<\/p>\nFeatures include:<\/p>\n
\n- Baldness, prominent scalp, veins and eyes, small jaw, late tooth formation<\/li>\n
- Thin limbs with prominent joints, short stature, joint stiffness, hip dislocations<\/li>\n
- Thickened, tight and shiny skin over the joints.<\/li>\n<\/ul>\n
Average life expectancy is 13 years, and approximately 75% die of heart disease.<\/span><\/p>\n<\/span>Werner syndrome<\/span><\/span><\/h3>\nWerner syndrome or<\/span>occurs in about 1 in 1 million people. First sign<\/span> The syndrome is around puberty when the child does not have normal growth spurts or may be delayed until a person is 30 years old.<\/p>\nFeatures include:<\/p>\n
\n- A noticeable difference between a person's appearance and their actual age<\/li>\n
- Gray and \/ or bald hair, wrinkles and aging of the face, sunken cheeks, small jaw<\/li>\n
- Small stature (usually less than 1.6 m tall), muscle weakness<\/li>\n
- Thickened, tight and shiny skin over the joints, leading to ulcers<\/span>\n<\/li>\n
- Acute voice.<\/li>\n<\/ul>\n
Death generally occurs in patients between the ages of 30 and 50, with most dying from heart disease or Cancer<\/span>.<\/p>\n\n
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<\/span>What is the cause of progeria?<\/span><\/h2>\nWerner syndrome is a autosomal<\/span> recessive disorder, which means that an individual has inherited a mutated gene<\/span> of both parents 1 in 4 offspring are expected to have the disorder and others may be carriers<\/span> of the Werner syndrome gene is caused by a homozygous<\/span> or compound heterozygous<\/span> mutation<\/span> in RECQL2 geneWS, which provides instructions to a protein called helicase. This is a homolog of E. coli RecQ DNA<\/span> helicase and is found in chromosome<\/span> 8p12. Helicase affects the way DNA and RNA<\/span> they are replicated and repaired in the body.<\/p>\nHutchinson-Gilford syndrome can be autosomal recessive<\/span> or autosomal dominant<\/span>. Autosomal dominant disorders are transmitted by one parent, and up to 1 in 2 offspring may have the disorder. <\/span>Hutchinson-Gilford the syndrome is caused by de novo<\/span> heterozygous mutation in lamin A gene <\/span>on chromosome 1q22.<\/span> Lamin A protein is the structural scaffold that supports the core<\/span> of a cell together. Cellular<\/span> Instability seems to lead to premature aging.<\/p>\n<\/span>What are the complications of Progeria?<\/span><\/h2>\nThe complications of progeria are related to diseases associated with aging. In addition to skin changes, Werner syndrome patients often develop the following conditions:<\/p>\n
\n- \nwaterfalls<\/span> - In most cases, rapidly progressing cataracts develop between the ages of 20-40 years.<\/li>\n
- Osteoporosis (loss of bone density), particularly in the legs, caused by alterations in the parathyroid glands.<\/li>\n
- Diabetes mellitus: This occurs in at least 30% of patients and there are abnormalities glucose<\/span> tolerance in many others<\/li>\n
- Cardiovascular disease - particularly arteriosclerotic disease, which can lead to a fatal heart attack<\/li>\n
- \nPituitary gland<\/span> little activity<\/li>\n
- \nHypogonadism<\/span> or agonadism (absent or underactive ovaries or testes) and premature menopause<\/li>\n
- \nSoft fabric<\/span> calcification<\/span>\n<\/li>\n
- Cancer - the incidence<\/span> of malignancy<\/span> it is high, especially fibrosarcomas that occur in the 10% of patients. Other cancers include carcinomas of the thyroid and other organs, blood disorders, meningiomas, and skin cancers including scaly<\/span> cell carcinoma<\/span> arising in ankle and heel ulcers.<\/li>\n<\/ul>\n
<\/span>What is the treatment for progeria?<\/span><\/h2>\nThere is no specific treatment for Progeria. The management of syndromes is through the symptomatic treatment of related diseases. Genetic<\/span> Counseling is very important.<\/p>\n<\/section>","protected":false},"excerpt":{"rendered":"\u00bfCu\u00e1les son los s\u00edndromes de envejecimiento prematuro? Los s\u00edndromes de envejecimiento prematuro, tambi\u00e9n conocidos como progeria, incluyen dos afecciones hereditarias muy raras, Hutchinson-Gilford s\u00edndrome y s\u00edndrome de Werner. En ambas…<\/p>","protected":false},"author":8,"featured_media":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","format":"standard","meta":{"footnotes":""},"categories":[],"tags":[],"class_list":["post-11655","wiki","type-wiki","status-publish","format-standard"],"_links":{"self":[{"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/wiki\/11655","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/wiki"}],"about":[{"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/types\/wiki"}],"author":[{"embeddable":true,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/users\/8"}],"replies":[{"embeddable":true,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/comments?post=11655"}],"version-history":[{"count":0,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/wiki\/11655\/revisions"}],"wp:attachment":[{"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/media?parent=11655"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/categories?post=11655"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/tags?post=11655"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}