xeroderma-pigmentosum-xp

The condition called Xeroderma pigmentosum or (XP) is acquired through hereditary. It is characterized by extreme ultraviolet (UV rays from the sun) sensitivity. The eyes and some parts of the skin are the most affected ones every time there is sun exposure. There are also other patients who may experience other symptoms caused by nervous system problems that it causes. This is a congenital disease that can start as early as 2 years old.

The disease is due to gene mutations involved in damaged DNA repairing. There are at least 9 genes that were identified in inherited mutations. This is hereditary through the manner called autosomal recessive. Once diagnosed with XP, total sunlight protection needs to be implemented. This may include the use of dark sunglasses for eye protection, protective clothing and wearing sunscreen to protect the skin when going to be exposed under the sun. In order to prevent skin cancer, it is best to use creams like retinoid. It needs a doctor’s prescription. If skin cancers developed, it needs to be treated as the usual method.

 

Symptoms

Some of the symptoms that patient may experience when diagnosed with XP include joint pain, dentition/cognition abnormality, photosensitive skin, loss of developmental milestones, weight is faltering, fatigue, fever, dry skin, EEG result is abnormal, mental retardation, cataract, cross-eyed, corneal inflammation, hair loss and others.

 

Treatment

The sad thing is, there is no known cure yet for XP. However, there are methods that it can be prevented and treatment depends on its symptoms. Some management may include:

 

– Regular examinations of skin and eye

– Ultraviolet light protection

– Removal of cancerous tissues

– Psycho-social care

 

Skin lesions that are small and pre-malignant like actinic keratoses could be frozen using liquid nitrogen. Sun damaged skin in larger areas can be managed by treating it with imiquimod or topical 5 fluorouracil. There are also rare instances when dermabrasion or dermatome shaving is used for removing layers of damaged superficial skin. If skin cancers occur, it can be treated through standard methods.

 

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