Xeroderma Pigmentosum PDF

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Xeroderma Pigmentosum description including prevention and dermatologic care...

Description

Xeroderma Pigmentosum Treatment There is not a cure but symptoms can be managed through preventative measures and routine dermatologic care. People with XP should avoid sun exposure and UV radiation to prevent DNA damage and disease progression. They should wear protective clothing such as hats, UV face shields, long sleeves, and pants. People with XP should get their common surroundings, like their home, school, and work tested for UV levels with a UV light meter.

People with Xeroderma Pigmentosum should get their skin examined by a dermatologist every 6-12 months to look for precancerous and cancerous lesions. They should get routine eye exams by an ophthalmologist to check for ectropion, entropion. A Schirmer test should also be done to check the level of dryness. Routine neurologic exams are also very important to measure the occipital frontal circumference, assess deep tendon reflexes, and hearing exams. As people with xeroderma pigmentosum get older, they commonly need wheelchairs, feeding tubes, and long term nursing care.

Prevention ● Avoid sun exposure to prevent DNA damage and disease progression ● Avoid UV radiation ○ Protective clothing: hats, hoods, UV face shields, long sleeves, pants, gloves, high SPF sunscreen, long hair, UV blocking sunglasses, etc ○ Test surroundings (home, school, work) for UV levels with a UV light meter ○ Oral supplements of vitamin D Dermatologic Care ● Skin should be examined by dermatologist every 6-12 months or more ○ Look for precancerous and cancerous lesions ○ Remove any skin cancer ○ Guardians of children should know how to examine the skin to help early detection ● Routine eye exams by ophthalmologist ○ Eyelids examined for ectropion, entropion, pterygia/pinguecula ○ Cornea checked for clouding ○ Schirmer test for dryness ○ Dilated eye exam ● Routine neurologic exams ○ Measuring the occipital frontal circumference (check for microcephaly) ○ Assessing deep tendon reflexes ○ Hearing exams ● Treatments of skin cancers/eye abnormalities/neurologic abnormalities

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Skin Cancer ■ Small premalignant lesions can be treated by freezing with liquid nitrogen ■ Medium lesions - topical creams (5-fluorouracil, imiquimod) ■ Larger lesions - dermatome shaving, dermabrasion ■ Small skin cancers on trunk/extremities can be treated with electrodessication and curettage, surgical excision ■ Deep skin cancers/skin cancer on face can be treated with Mohs micrographic surgery ■ In severe cases, skin can be re-grafted ■ Xray therapy for inoperable/large neoplasms Eye abnormalities ■ Lubricating eye drops ■ Soft contact lenses ■ Neoplasms of eyelids, conjunctiva, cornea can be treated with surgery ■ Corneal transplant can work to correct UV induced ocular damage and corneal clouding, except … immune rejection; immunosuppressive drugs can cause additional skin cancers Neurologic Abnormalities ■ Associated with high frequency sensory-neural hearing loss ■ Hearing loss is progressive, treated with hearing aids ■ Cognitive delays can be seen in childhood ■ For kids, physical and occupational therapies with UV safe accommodations at school ■ As they get older, they experience ataxia, dysphagia, dysarthria ● May need wheelchairs, feeding tubes, and long term nursing care

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