POIKILODERMA CONGENITALE Meaning and
Definition
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Poikiloderma Congenitale is a rare genetic disorder characterized by abnormalities in the skin pigment, blood vessels, and other structures of the body. It is typically present at birth and remains throughout an individual's life. This condition is also known as Rothmund-Thomson syndrome.
The primary feature of poikiloderma congenitale is the development of skin abnormalities. Affected individuals often have a red or flushed appearance on their face, which can spread to other areas of the body. Over time, the skin may become thin, dry, and wrinkled, and individuals may develop small, dilated blood vessels known as telangiectasia. In addition, poikiloderma congenitale can lead to the formation of dark, irregular patches on the skin, which is often combined with areas of lighter or depigmented skin.
Besides skin abnormalities, individuals with poikiloderma congenitale may also experience other health issues. These can include skeletal abnormalities, such as short stature or malformed bones, and abnormalities in the hair, teeth, and nails. Moreover, affected individuals may be at an increased risk of developing certain types of cancer, particularly osteosarcoma.
The exact cause of poikiloderma congenitale is still not fully understood, although it is known to be caused by mutations in certain genes. This condition is typically inherited in an autosomal recessive pattern, meaning that both parents must carry a copy of the mutated gene for their child to be affected.
Currently, treatment options for poikiloderma congenitale are focused on managing the symptoms and complications associated with the condition. This may include the use of sunscreen to protect the skin from further damage, regular check-ups to monitor for any signs of cancer, and addressing specific
Common Misspellings for POIKILODERMA CONGENITALE
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Etymology of POIKILODERMA CONGENITALE
The term Poikiloderma Congenitale is a medical term used to describe a rare genetic disorder characterized by the presence of hyperpigmentation, telangiectasia (dilated blood vessels), and atrophy of the skin. The word poikiloderma is derived from two Greek roots: poikilos, meaning variegated or spotted, and derma, meaning skin. Congenitale is a Latin term meaning congenital or present from birth. So, Poikiloderma Congenitale can be translated as variegated or spotted skin present from birth.
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