Premature aging syndromes

What are the premature aging syndromes?

Premature aging syndromes, also known as progeria, include two very rare inherited conditions, Hutchinson-Gilford syndrome and Werner syndrome. In both conditions, skin changes that indicate premature aging include:

• Atrophy (thinning of the skin and loss of elasticity)
• waste of cutaneous grease
• Wrinkles
• Hoary hair
• Hair loss
• A dystrophy
• Defective pigmentation
• Ulceration.

These are changes that occur as the normal body ages (see skin aging) but in Progeria, they occur at an accelerated rate.

What are the differences between the types of Progeria?

Hutchinson-Gilford syndrome

Hutchinson-Gilford syndrome orit 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.

Features include:

• Baldness, prominent scalp, veins and eyes, small jaw, late tooth formation
• Thin limbs with prominent joints, short stature, joint stiffness, hip dislocations
• Thickened, tight and shiny skin over the joints.

Average life expectancy is 13 years, and approximately 75% die of heart disease.

Werner syndrome

Werner syndrome oroccurs in about 1 in 1 million people. First sign 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.

Features include:

• A noticeable difference between a person's appearance and their actual age
• Gray and / or bald hair, wrinkles and aging of the face, sunken cheeks, small jaw
• Small stature (usually less than 1.6 m tall), muscle weakness
• Thickened, tight and shiny skin over the joints, leading to ulcers
• Acute voice.

Death generally occurs in patients between the ages of 30 and 50, with most dying from heart disease or Cancer.

What is the cause of progeria?

Werner syndrome is a autosomal recessive disorder, which means that an individual has inherited a mutated gene of both parents 1 in 4 offspring are expected to have the disorder and others may be carriers of the Werner syndrome gene is caused by a homozygous or compound heterozygous mutation in RECQL2 geneWS, which provides instructions to a protein called helicase. This is a homolog of E. coli RecQ DNA helicase and is found in chromosome 8p12. Helicase affects the way DNA and RNA they are replicated and repaired in the body.

Hutchinson-Gilford syndrome can be autosomal recessive or autosomal dominant. Autosomal dominant disorders are transmitted by one parent, and up to 1 in 2 offspring may have the disorder. Hutchinson-Gilford the syndrome is caused by de novo heterozygous mutation in lamin A gene on chromosome 1q22. Lamin A protein is the structural scaffold that supports the core of a cell together. Cellular Instability seems to lead to premature aging.

What are the complications of Progeria?

The complications of progeria are related to diseases associated with aging. In addition to skin changes, Werner syndrome patients often develop the following conditions:

• waterfalls - In most cases, rapidly progressing cataracts develop between the ages of 20-40 years.
• Osteoporosis (loss of bone density), particularly in the legs, caused by alterations in the parathyroid glands.
• Diabetes mellitus: This occurs in at least 30% of patients and there are abnormalities glucose tolerance in many others
• Cardiovascular disease - particularly arteriosclerotic disease, which can lead to a fatal heart attack
• Pituitary gland little activity
• Hypogonadism or agonadism (absent or underactive ovaries or testes) and premature menopause
• Soft fabric calcification
• Cancer - the incidence of malignancy 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 cell carcinoma arising in ankle and heel ulcers.

What is the treatment for progeria?

There is no specific treatment for Progeria. The management of syndromes is through the symptomatic treatment of related diseases. Genetic Counseling is very important.