Parents & Caregivers

This page contains some tips and articles to better inform you about the disease xeroderma pigmentosum (XP). Please also visit our Research & Discoverypage for further information and helpful links that provide information and support to the XP family.

For the most complete and up-to-date medical information about Xeroderma Pigmentosum (xp), please refer to this GeneReviews articleby Daniel J. Wattendorf, MD and Kenneth H. Kraemer, MD. Revised June 1st, 2006.

Symptoms

  • Wide range of symptoms
    • blistering or freckling on minimum sun exposure
    • premature aging of skin, lips, eyes, mouth and tongue; with significant increased incidence of cancer in these same areas
    • blindness resulting from eye lesions or surgery for skin cancer close to the eyes
    • progressive neurological complications including:
      • developmental disabilities
      • mental retardation
      • high frequency hearing loss, progressing to deafness
      • de Sanctis-Cacchione syndrome (rare)
  • Very rare
    • Prevalence is estimated at 1:1,000,000 in the United States. Certain populations have a higher prevalence. For example, in Japan, the prevalence is estimated as 1:40,000. Prevalence is increased in North Africa (Tunisia, Algeria, Morocco, Libya, and Egypt) and the Middle East (Turkey, Israel, and Syria), especially in communities in which consanguinity is common. (reference)
  • Clinical diagnosis possible
  • Life threatening
    • The DNA damage is cumulative and irreversible
    • Up to 2000-fold increased risk of skin cancer, or pre-cancerous tumors and mouth and eye tumors
  • Other disorders associated with defective DNA repair
    • Ataxia-Telangiectasia
    • Bloom Syndrome
    • Cockayne Syndrome
    • Fanconi Anemia
    • Trichothiodystrophy (TTD)
  • Other disorders characterized by light sensitivity
    • Drug-induced photosensitivity
    • Erythropoietic Protoporphyria (EPP)
    • Lupus (30% of cases)
    • Polymorphous Light Eruption (PLE)
    • Porphyria (general)

There is no cure for XP. The DNA damage is cumulative and irreversible. Management is limited to avoidance of exposure to damaging UV radiation by staying indoors with sunlight blocked out, and use of protective clothing, sunscreens and sunglasses. Also, avoid other known carcinogens.

 

The XP Society is the international authority for XP (xeroderma Pigmentosum) family support and information to assist in making intelligent decisions in the caregiving of XP family members.

 

Limited UV exposure also can mean low levels of essential Vitamin D:

Article

 

The XP Society is the international authority for XP (xeroderma Pigmentosum) family support and information to assist in making intelligent decisions in the caregiving of XP family members.

 

UV protection for persons with XP

Xeroderma pigmentosum presents many challenges for those who have the disease as well as those who care for them. There are a number of variations (i.e., complementation groups) of the disease itself, as well as a range of symptom manifestations among individuals within any group. Given the rarity of XP, it is understandable that much is not yet know about how to best provide protection. Of necessity, we resort to generalizations such as “avoid all sources of UV radiation.”

We are well aware that this is easier said than done. What to avoid? How to protect against that which we cannot avoid? Simple questions. The answers are not so simple. We will attempt to answer here, but rest assured that as we learn more, the answers will improve.

More . . .

The XP Society is the international authority for XP (xeroderma Pigmentosum) family support and information to assist in making intelligent decisions in the caregiving of XP family members.

 

 

Medications that can increase photosensitivity

Science Daily

Also see Drug-induced photosensitivity

The XP Society is the international authority for XP (xeroderma Pigmentosum) family support and information to assist in making intelligent decisions in the caregiving of XP family members.

 

Revised Medical Criteria for Evaluating Skin Disorders

We recommend that any parents previously turned down for SS benefits re-apply for benefits. Applies in US only.

PDF Article

The XP Society is the international authority for XP (xeroderma Pigmentosum) family support and information to assist in making intelligent decisions in the caregiving of XP family members.

 

Dentistry and the UV-sensitive patient

Article

The XP Society is the international authority for XP (xeroderma Pigmentosum) family support and information to assist in making intelligent decisions in the caregiving of XP family members.

 

 

DNA Repair explained in simple terms

Article

 

 

Photoprotection: Beta Carotene

Article

 

The XP Society is the international authority for XP (xeroderma Pigmentosum) family support and information to assist in making intelligent decisions in the caregiving of XP family members.

 

 

Vitamin D and the Sun: Dispelling the Myth

Studies prove that ultraviolet (UV) exposure is not required for maintaining vitamin D sufficiency nor is UV a scientifically-proven cancer fighter. However Vitamin D is very important and diet or supplements must be considered. Please see this NIH Web page.

 

The XP Society is the international authority for XP (xeroderma Pigmentosum) family support and information to assist in making intelligent decisions in the caregiving of XP family members.

Caffeine concern alleviated!

Article

 

The XP Society is the international authority for XP (xeroderma Pigmentosum) family support and information to assist in making intelligent decisions in the caregiving of XP family members.

 

Cancer Therapy Risk

In an e-mail message to members of the XP-Connection list, Dr. Busch warns of a risk of cancer therapy for persons with XP. XP patients are very sensitive to some cancer therapy drugs such as cisplatin, which damage DNA and are repaired with the same pathway as UV damage to DNA. What would be normally used cancer chemotherapy doses for most people could be lethal for an XP patient. If an XP patient ever gets a cancer requiring systemic cancer chemotherapy, please make sure the doctors are aware of this danger!

Reference:
Cancer Therapy for Persons With Genetic Disorders Causing Radiation and Chemotherapy Agent Sensitivity – Genetic Susceptibility to Radiation and Chemotherapy Injury: Diagnosis and Management; International Journal of Radiation Oncology Biology Physics 1994. David Busch, Ph.D., M.D.

Updated June 1, 2001:

Provided by Kenneth H. Kraemer, M.D.

While there have been a few reports of XP patients having an adverse response to therapeutic x-ray, most XP patients have a normal response. We have treated several patients with x-ray who have developed cancers that could not be treated surgically. All had a normal response to the treatment and the skin did not show any residual changes. Because of the problems in a few patients, we recommend an initial small test dose to check for abnormal acute response.

We have published a report on one of the patients:
DiGiovanna, J.J., Patronas, N., Katz, D., Abangan, D., and Kraemer, K.H.: Spinal cord astrocytoma in a patient with xeroderma pigmentosum: 9-year survival with radiation and isotretinoin therapy. J Cutaneous Medicine and Surgery 2:153-158, 1998.

An abstract is available on the internet:
http://www.ncbi.nlm.nih.gov/

The XP Society is the international authority for XP (xeroderma Pigmentosum) family support and information to assist in making intelligent decisions in the caregiving of XP family members.

 

NASA “Space” Suits

Not quite ready for XP patients

by Caren Mahar

It was June of 1997 when we first met Bob Mumford. Mr. Mumford works for Hamilton Standard, the company that produces the space suits for NASA.

We came to meet Mr. Mumford because his wife read an article in the Ladies Home Journal about XP and she suggested that he might be able to help in some way. We spoke about the possibility of developing a suit for XP patients that will allow safe, inconspicuous protection from UV. We were particularly interested in providing protection for daytime travel between home and a doctor visit or school.

We invited Mr. Mumford to Camp Sundown where he and a coworker, known as “Dr. Flush” for his involvement in the design of toilets for space capsules, presented an educational and entertaining description of life in spacesuits.

This visit also provided an opportunity for them to share thoughts with parents and patients about how a suit might be designed to maximize UV protection without the wearer seeming to masquerade as an astronaut. We discussed neutral shades, design concerns, assurance of UV prevention, and “play-proofing.”

In October of 1997, NASA released a prototype of a garment made of spacesuit materials that was tested to have a very high level of UV protection and included an internal cooling vest made by another NASA contractor.

They had been developing this suit at the Johnson Space Center since January of 1997 at the request of a family in London with two small boys who suffer from polymorphous light eruptions (a sun sensitivity behaving like an allergy that causes a rash following exposure to UVA). NASA knew nothing of our efforts nor of Hamilton Standard’s involvement and we knew nothing of their project.

XP patients have a serious concern for exposure possibilities that could cause irreversible, cumulative damage to the DNA — leading to cancers. What may be adequate for one condition is not necessarily adequate for XP.

Bob Mumford of Hamilton Standard (manufacturers of spacesuits for NASA) understands the needs of the XP patients and the concerns of the families. He reported a third prototype of a suit which has several improvements, including lighter weight and self-contained cooling.

The position of the XP Society is to promote 100% protection as well as to share information about products that may be useful but are not yet perfected, allowing individual families to make informed choices.

It is wonderful that an organization as big as NASA is thinking in terms of helping XP patients through their technology and equipment. Hopefully, in the future—with the generous help from persons such as Bob Mumford at Hamilton Standard—that there will be an outfit designed for the specific needs of XP patients. Until then, please review the XP Society position on this subject.

 

The XP Society is the international authority for XP (xeroderma Pigmentosum) family support and information to assist in making intelligent decisions in the caregiving of XP family members.

Tips for the XP patient

While total avoidance of ultraviolet light sources is the most important practice for the XP patient, the following tips gathered from XP families will help in other areas of day-to-day living. Please feel free to send us more so we will share them. As always, please check with your primary physician before attempting anything new relating to health.

Xeroderma Pigmentosum is listed as a Disability with the US federal listing of disabilities at Social Services. Options are open to families of XP patients for special services.

1. Obtain a handicapped parking permit from your local municipality to secure nearby parking to minimize outdoor UV exposure during a necessary day trip. Many states, like NY, have adapted special exception to their jmotor Vehicle laws regarding window tinting to allow protection of the UV-sensitive individual. Stop into your DMV to find out how to apply for this exception in your state.

2. Obtain the doctor’s diagnosis on his letterhead and make several copies. One copy should always be kept in the glove compartment of your (tinted) vehicle, save one copy for school registration, one to register for summer camp for the first time, and the original should be filed with your other important health papers.

3. Keep those receipts! For sunscreen, sunglasses, specific SPF clothing (like SunPrecautions, Koala Kids, etc.) with all other medical receipts for end of year tax filing. Supported by your doctor’s diagnosis letter, these should be deductible, in conjunction with other medical expenses, as essential for survival. Check with your tax preparer to see if you qualify to itemize. Remember to include other item such as tinting for windows of home and car as they are necessary for the reduction of UV.

4. Check with your county health department or family services about availability of respite care. Xeroderma Pigmentosum, even in its best form, is such a medically fragile condition that it requires continual attention and care.

5. Ask your pediatrician or dermatologist to see if, for routine examinations, house calls can be made. Unless the physician is willing to see you in the office after dark, you minimize risk by having the child examined in your home.

6. Avoid charbroiled (blackened) food items. This has recently been added to the EPA list of known carcinogens.

7. Routine medical examinations

  • Ask your doctor to check the XP child’s serum carotene (level of beta carotene in the blood) and D vitamin level through appropriate blood screens. Vitamin supplements may be advised to maintain normal levels.
  • Skin should be checked every 3_6 months after diagnosis.
  • Vision and Neurological checks can be done annually.

8. Regular use of baby oil in the bath water can help ap moisture and smoothness to dry skin in a cost-effective manner.

The XP Society is the international authority for XP (xeroderma Pigmentosum) family support and information to assist in making intelligent decisions in the caregiving of XP family members.

 

Skin Cancer

Skin cancer is the uncontrollable growth of abnormal cells in a layer of the skin. It attacks one out of every seven Americans each year, making it the most prevalent form of cancer. However, ninety percent of all skin cancers can be cured if detected and treated in time.

There are several different kinds of skin cancers, distinguished by the types of cells affected. The three most common forms of skin cancer are:

  • Basal cell carcinoma – usually appears as raised, translucent lumps. This cancer develops in 300,000 to 400,000 persons each year. Although the disease does not usually spread to other parts of the body through the blood stream, it may cause considerable damage by direct growth and invasion.
  • Squamous cell carcinoma – usually distinguished by raised repish lumps or growths. This form of cancer develops in 80,000 to 100,000 persons per year. The disease can spread to other parts of the body. Approximately 2,000 deaths occur each year from this form of cancer
  • Malignant melanoma – first appears as a light brown to black irregularly shaped blemish. This serious form of cancer results in death if undetected and untreated. It can spread to other parts of the body through the bloodstream and the lymph drainage system.

The XP Society is the international authority for XP (xeroderma Pigmentosum) family support and information to assist in making intelligent decisions in the caregiving of XP family members.

 

Treating Skin Cancer

From a publication of the American Society For Dermatologic Surgery (ASDS) 1-800-441-2737

A dermatologic surgeon selects the most appropriate treatment for a particular skin cancer or precancerous condition from among the following procedures and techniques:

  • Curettage, in which malignant tissue is scraped away with a sharp instrument. This method is most effective for small, superficial cancers that have not been treated previously. It is often followed by destruction of the cancerous tissue with an electric neepe.
  • Surgical excision, or cutting into the skin and removing the growth. The skin is then closed with stitches.
  • Cryosurgery, in which liquid nitrogen is applied directly to the skin to freeze cancerous tissue.
  • Topical chemotherapy, or the application to the skin surface of chemicals capable of destroying precancerous growths.
  • MOHS micrographic surgery, or excision of a tumor and its surrounding skin with the aid of a microscope. This method allows the dermatologic surgeon to trace the outline of a cancerous growth, layer by layer, with exceptional accuracy.
  • Laser surgery, in which intense waves of light are beamed at cancerous skin to cut away or vaporize the tissue.

More information :

Prevention of Nonmelanoma Skin Cancer

The XP Society is the international authority for XP (xeroderma Pigmentosum) family support and information to assist in making intelligent decisions in the caregiving of XP family members.

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