Symptoms And Treatment Of Xeroderma Pigmentosum - amazonia.fiocruz.br

Symptoms And Treatment Of Xeroderma Pigmentosum - you

Credits: 1. Need Help? Xeroderma pigmentosum is a rare autosomal recessive genodermatosis that results due to mutations in nucleotide excision repair. The condition is characterized by severe photosensitivity, skin pigmentary changes, malignant tumor development, and occasionally progressive neurologic degeneration. This activity describes the evaluation and management of Xeroderma Pigmentosum and highlights the role of the healthcare team in evaluating and managing patients with this condition. Describe the pathophysiology of xeroderma pigmentosum. Symptoms And Treatment Of Xeroderma Pigmentosum

Xeroderma pigmentosa XP is a rare genetic condition which is characterised by extreme sun sensitivity. It manifests as skin pigmentation changes, sunburns and an increased risk of skin cancers. Approximately one quarter of affected individuals will have associated neurological manifestations.

It is caused by a mutation on one of eight genes. It is autosomal recessive, meaning two copies of the defective gene are needed to develop the disease.

Xeroderma Pigmentosum

People with Xeroderma Pigmentosum tend to have problems with their eyes which can range from dry eyes and sensitivity to light, to visual impairment. Certain source of Xeroderma Pigmentosum may make one more prone to neurological problems. This can manifest as intellectual impairment, deafness, and difficulty balancing and walking.

Finally, people who have Xeroderma Pigmentosum are also at increased risk of cancers in the mouth and eyes. In some individuals, XP may present as a reddening in the first few weeks of life due click here exaggerated sunburn response.

In other individuals, they will often develop freckle-like pigmentation on sun-exposed areas such as the forehead and cheeks in early childhood, usually before the age of 2 years. If XP is suspected, you or your family member may have a skin biopsy performed Xerodrrma referred to a genetics clinic and offered a blood test. This blood test looks to see if the faulty gene is present and can help confirm the disease.

Other associated skin findings are hypo- and hyperpigmentation, warty growths and accelerated photoaging. The eyes may also be affected.

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Individuals with XP are at a significantly increased risk of non-melanoma and melanoma skin cancer. Awareness of your own skin is very important if you suffer from XP, to detect skin Pignentosum early. Xeroderma Pigmentosum patients who do not suffer from neurological problems generally have a normal lifespan. The most common causes of death in patients with Xeroderma Pigmentosum is metastatic melanoma and neurodegeneration. However, patients who are diagnosed early and who stick to strict sun protection regimes have good outcomes.

You may use for Sympptoms use only. Please refer to our disclaimer. What is it? What causes it? XP occurs in all ethnic and gender groups. What other problems can occur? How is it diagnosed? What are the other associated signs and symptoms of the disease? How is it treated? Strict lifetime sunlight avoidance is key to reducing the risk of associated sequalae.]