Xeroderma Pigmentosum

Xeroderma Pigmentosum

Description, Causes and Risk Factors:

Alternative Name: De Sanctis-Cacchione syndrome.

Abbreviation: XP.

XP is a rare disorder transmitted in an autosomal recessive manner, characterized by hypersensitivity to the sun and ultraviolet rays. Around 80% of patients have a deficiency in their DNA nucleotide excision repair system (NER, DNA). These patients are affected by the conventional form of XP. Around 20% of sufferers are variant patients (XP-V), which means that the NER works, but the defect is in the post-replication process, which allows a cell to synthesize DNA in spite of a lesion on the template strand (translesional synthesis). The typical XP symptoms appear later among XPV patients. The incidence of Xeroderma pigmentosum is around 1/1,000,000 births in Europe.

Two factors combine to cause the abnormalities in XP. First, a person inherits traits from each parent which, when combined, lead to an unusual sensitivity to the damaging effects of ultraviolet light. Second, exposure to the sun, which contains ultraviolet light, leads to changes in the skin and eyes.

Furthermore, the significance of this disease's impact in social, psychological and affective terms, justifies personalised management. Regular therapeutic education consultations (involving patients and their close family), along with consultations screening for complications are essential throughout the follow-up period.


Some of the symptoms include:

    Severe and painful sunburns.

  • Freckles at a young age.

  • Multiple skin cancers (tumors).

  • Rough and dry skin with dark spots.

  • Developing sensitivity in first few years of life.

  • Signs of premature aging.

  • Irritated, bloodshot, and cloudy eyes.

Neurological symptoms may include:

    Learning disabilities.

  • Mental retardation.

  • Hearing loss.


First, the doctor looks over the patient's skin and eyes visually. Additionally, the doctor looksover the patient's medical history, seeing if any family members have had the condition.Often times, the doctor sends blood samples and skin tissue samples for DNA testing tomeasure the DNA repair defect following exposure to ultraviolet radiation.XP can usually be diagnosed in the laboratory by measuring the DNA repairdefect.

Other Tests:

    Imaging Tests (like an MRI or CAT scan): This kind of test allows you to see the deterioration of the brain of somepatients with neurological symptoms, like dementia.

  • Audiogram Test: This kind of test allows you to measure a patient's hearing capacity if the person has hearing loss,another neurological symptom of people with XP.

  • Electromyography Test: This kind of test evaluates a patient's nerve function and is helpful if the person experiencesthe inability to control muscle movements, yet another XP symptom.


Given that there is no curative treatment for this condition, its management basically relies on preventive measures, which mainly involves photoprotection, as well as on early detection and treatment of cutaneous and ocular tumours.

Preventive measures may include:

    Protection from ultraviolet light.

  • Frequent skin and eye examinations.

  • Prompt removal of cancerous tissue.

  • Neurological examination.

  • Psychosocial care.

Surgery: Surgical intervention is the main treatment for malignant cutaneous tumours. It must be carried out as early as possible to limit as much as possible the damage associated with scarring. It is the specialist's responsibility to indicate this treatment.

Radiotherapy: Radiotherapy is rarely indicated, most often when surgery is impossible. It is the responsibility of the specialist to indicate this treatment, who will discuss with the radiotherapist the dose to be used.

General chemotherapy: Chemotherapy is mainly proposed for advanced squamous cell carcinomas which are impossible to treat via surgery or radiotherapy, or which are inoperable and metastatic. Lastly, it is proposed in exceptional cases for reducing tumour volume prior to surgery. Most XP cells are hypersensitive to antitumour drugs. The dose to be administered will be determined jointly by the cancer specialists and dermatologists.

Local topical treatments:

    Topical treatment with 5-fluorouracil is used in addition to surgery for precancerous lesions (keratoses).

  • Cryotherapy is used in the treatment of pre-epitheliomatous lesions (keratoses).

  • Imiquimod 5% cream is used as a supplement to contribute to the regression of basal cell carcinomas on surface areas of the trunk and those less than 1 cm .

NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.


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