Currently, xeroderma pigmentosum (XP) is not curable. The U.S. Food and Drug Administration (FDA) has granted a fast-track designation for a new topical treatment that is being studied in clinical trials. This treatment uses a special substance made by a virus called bacteriophage T4 endonuclease 5 (T4N5) in a liposomal lotion. This drug, however, is not approved for the treatment of patients with XP. The development of gene therapy for XP, while showing promising results in preclinical studies, has been slower due to tactical hurdles but still seems a promising option.
Treatment for this condition is mainly focused on managing symptoms and limiting complications. Another major goal of therapy is to prevent the development of skin cancers in these patients.
Because the condition affects various sites of the body, generally, a team approach is needed, which consists of various specialists such as:
- Dermatologist
- Neurologist
- Ophthalmologist
- Audiologist
- Otolaryngologist
- Medical geneticist
- Oncologist
Primary management includes avoidance of sun exposure with constant use of sunscreen containing appropriate SFP and UV protection. Additionally, the affected person requires sun-protective clothing, ultraviolet (UV)-protective goggles, and special arrangements in school to avoid any sunlight or UV exposure.
Medications containing systemic retinoids, including acitretin and isotretinoin, have been given at high doses for the prevention of non-melanoma-type skin cancer (NMSC) with a fair amount of success. Some studies have even proposed the use of topical, fluorouracil or imiquimod therapy right from childhood to prevent the eventual development of skin cancers.
Treatment involves long-term follow-up with doctors looking for the development of any new symptoms, as well as limiting the extent of existing ones. Timely diagnosis of premalignant lesions or early cancerous changes helps doctors provide appropriate management. Doctors may advise avoiding cigarette smoke and sources of ultraviolet (UV) radiation (including sunlight, welding arcs, sun lamps and tanning beds). They may also recommend regular screening for cancer and prescribe certain supplements (such as vitamin D) to maintain the good health of affected patients.
XP is a chronic disease that affects the appearance of patients, so it may be mentally overwhelming. Because of this, doctors may refer patients to therapists or support groups to help them better deal with the disease.
What is xeroderma pigmentosum?
Xeroderma pigmentosum (XP) is a rare, inherited condition that causes the skin and eyes to become extra sensitive to the ultraviolet (UV) radiation that is present in sunlight or other sources. The term “xeroderma” refers to the characteristic dry or “xerotic” skin seen in patients with XP. Affected patients may suffer sunburns, freckles or blisters upon exposure to sunlight. They may even develop changes in skin color and texture. Additionally, XP patients may also have problems with their eyes and nervous system.
XP is caused by a defect in the genes (DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA or XPC) that make the body cells extremely sensitive to UV rays. The cells of patients with XP cannot repair DNA damage due to sunlight or toxins, making them sensitive to their surroundings. Various variants of the disease may make the genes work incorrectly or, sometimes, not at all. It is inherited in an autosomal recessive pattern, which means the following.
We all inherit two copies of each gene from our parents. The term autosomal means the gene is found on one of the chromosomes (given a specific number) found in both sexes. A condition is called recessive if both copies of the responsible gene are altered to have the condition. Therefore, if a patient has one defective gene, then they will not have the disease but will still be a carrier of it. Having two faulty genes will result in the condition/disease.
What are the symptoms of xeroderma pigmentosum?
Symptoms of xeroderma pigmentosum (XP) typically begin in early childhood. They may vary from patient to patient, and the severity of the disease also varies across different individuals. Some of the symptoms of XP are as follows:
- Cutaneous hypersensitivity (Skin becomes extra sensitive to ultraviolet [UV] radiation)
- Severe sunburn with blistering
- Hyperpigmentation (patches of dark skin) or hypopigmentation (patches of light-colored skin)
- Eyes become hypersensitive to UV radiation
- Dry skin
- Dry eyes
- Vision abnormalities
- Microcephaly (small skull)
- Hearing loss
- Progressive mental impairment
- Low body weight
- Freckles
- Thinning of skin
- Fever
- Fatigue
- Cataract (clouding of the lens)
- Hyperkeratosis (thickening of the skin)
- Hair loss
- Difficulty walking
- Blepharitis (inflammation of the eyelids)
- Short stature
- Seizures
- Muscle spasms
- Dysphagia (difficulty in swallowing)
The above symptoms do not include all the manifestations of XP. Patients with the condition are also more likely to have cancer, typically skin cancer and oral cancer. XP is diagnosed based on symptoms, clinical examination and genetic testing. Doctors may perform specialized tests on skin cells to look for sensitivity to UV radiation.
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