Symptoms and Complications
The symptoms of xeroderma pigmentos are:
- The skin, in particular the parts exposed to the sun
- The eyes
- The nervous system
Since it is a congenital disease, the first signs of the disease begin to appear already in the first years of life: at just two years, the child is extremely sensitive to ultraviolet rays from sunlight.
THE SKIN: SYMPTOMS AND SIGNS
The main symptoms of xeroderma pigmentosus occur in the skin. Patients show:
- Photosensitivity (ie an exaggerated reaction of the skin to sunlight)
- Tendency to tan easily, even after brief exposures
- Many freckles already in the first years of life
- High predisposition to skin cancer
- xerodermia
- poikiloderma
A healthy child, in the first years of life, gets tan with difficulty and almost never has freckles. A child with xeroderma pigmentosus, on the other hand, is extremely sensitive to UV rays ( photosensitivity ) and is subject to a rapid tan and the appearance of numerous freckles, particularly in areas of skin exposed to the sun. The photosensitivity and the easy pigmentation of the skin are characteristics that certainly do not go unnoticed, as those affected show violent redness and lesions of the skin, even after a brief exposure to the sun.
In a few years, then, the patient develops xerodermia or dryness and easy peeling of the skin, and poichilodermia, that is a hyperpigmentation of some regions of the skin.
Finally, skin cancers are the most dramatic signs, also because they do not spare any individual with xeroderma pigmentosum. They are very early and can make their appearance in patients who do not adequately protect themselves from the sun, as early as the 8th-10th year of life. The areas of the body most affected by cancer are the face, lips, eyelids, scalp and the tip of the tongue.
Why is it called xeroderma pigmentoso?
The term xeroderma pigmentoso is due to two typical clinical signs of this disease: xerodermia and the tendency to tan easily (ie easy skin pigmentation).
THE EYES: SYMPTOMS AND SIGNS
The eyes of a xeroderma pigmentoso sufferer are very sensitive to ultraviolet rays from the sun; this is because, like the skin, they lack protection. For the same reason they show photophobia and inflammation of the conjunctiva ( conjunctivitis ) and of the cornea ( keratitis ). They are also reddened, extremely irritated and prone to ocular tumors (malignant and non-malignant).
The eyelids, in addition to developing skin cancers, pigment in an unusual way, completely lose the eyelashes, become atrophic and affected by ectropion or entropion .
In summary, the ocular symptoms and signs are:
- Fotofobia
- Inflammation of the conjunctiva
- Keratitis (corneal inflammation)
- Redness and eye irritation
- Ocular tumors (malignant and non-malignant)
- Skin cancers of the eyelids
- Loss of eyelashes
- Atrophy of the eyelids, with phenomena of ectropion or entropion
NERVOUS SYSTEM: SYMPTOMS AND SIGNS
About 30% of people with xeroderma pigmentosus have neurological disorders. These are very different symptoms, ranging from microcephaly to sensorineural hearing loss, from lack of coordination to movement difficulties etc.
The following table summarizes the neurological signs typical of xeroderma pigmentosum.
Manifestations of xeroderma pigmentosum at neurological level:
- Reduced or failed deep reflex of tendons
- Sensorineural deafness (ie due to the lack of acoustic transmission of the nerve signal between the ear and the brain)
- Decline of cognitive functions
- Epilepsy
- Microcephaly
- Loss of coordination
- Difficulty of movement, even just walking
- Difficulty speaking and swallowing
COMPLICATIONS
We have already spoken of cutaneous and ocular tumors. However, these are not the only complication of xeroderma pigmentosum. A patient, in fact, is generally predisposed to many other cancers: for example, at the level of the buccal cavity, the lungs and internal organs.
The motivation is linked, as with damage to the skin and eyes, to the failure to repair damaged DNA, which affects all the cells of the body, not just those exposed to UV rays.
Add to this, then, that there is a greater sensitivity to cigarette smoke (even passive) and chemical mutagens, even common ones.
For these reasons, sick individuals do not have a long life expectancy and must pay maximum attention to the time they spend in the sun and in certain polluted environments.
Diagnosis
The diagnosis of xeroderma pigmentoso is based on the clinical examination of the signs shown by the patient. On the other hand, it could not be otherwise, given that, as we have said, the cutaneous manifestations (redness, lesions, appearance of freckles at a tender age, xerodermia, etc.) and ocular (keratitis, absence of eyelashes, etc.) are enough clear and unequivocal.
EARLY DIAGNOSIS
Early diagnosis is very important, as early recognition of xeroderma pigmentos can delay, as far as possible, the onset of skin cancers and other complications.
It is easy enough to detect the disease in a child, as the appearance of freckles at the age of 2 is quite unusual.
In these cases, and at the slightest suspicion, you should contact your dermatologist immediately.
LABORATORY EXAMINATIONS
The laboratory test, put into practice if xeroderma pigmentosus is suspected, is a skin biopsy . On a skin sample, in fact, it is possible to perform molecular biology investigations, which show the ability of skin cells to repair DNA damage.
ARE THERE GENETIC TESTS?
Genetic tests, currently possible, concern only two types of xeroderma pigmentos: the XPA and the XPC. To recognize the other types of xeroderma pigmentos, molecular tests are used, which are not properly classified as genetic tests.
PRENATAL DIAGNOSIS
If a pregnant woman deems it appropriate, it is also possible to carry out a prenatal test (after taking amniotic fluid ), to know whether the child is affected by xeroderma pigmentos or not. However, given the rarity of the disease and the risks involved in taking amniotic fluid, the doctor advises against this diagnostic test.
Treatment
Unfortunately, there is no cure for xeroderma pigmentosum. In fact, the only possible therapeutic treatments are to be considered more than the countermeasures to contain the symptoms, which are not real specific treatments.
The fundamental points of the therapy are:
- Avoid exposure to ultraviolet rays from the sun
- The continuous monitoring by the patient of his own health conditions
- Drugs for symptom control
- Surgical interventions against larger and more severe tumors
- Psychological support
AVOID EXPOSURE TO UV RAYS
To avoid exposure to sunlight as much as possible, the patient is advised not to go out during daylight hours, but only in the evening, when the sun has gone down;
to wear totally covering clothes, hats and sunglasses; to keep the haircut medium-long; to spread the sun protection cream regularly on the skin; to apply, at home windows, special anti-UV glasses; to change those light bulbs in the home that emit UV radiation with special lights, which do not emit etc.
A person suffering from xeroderma pigmentoso, which follows these indications, can develop a vitamin D deficiency, whose presence in the human body is due to sunlight.
CONTINUOUS MONITORING
We recommend periodic checks with different specialists to observe the progress of the disease. Every 3 months or so, it is good for the patient to see a dermatologist for skin control.
It is equally appropriate, then, at least once a year, to undergo an ophthalmological examination, to monitor the condition of the eyes.
Finally, neurological, hearing and vitamin D levels should not be forgotten.
PHARMACOLOGICAL TREATMENTS
The pharmacological treatments, foreseen for patients with xeroderma pigmentoso, include:- Taking vitamin D supplements
They are used to deal with the inevitable shortcomings of this vitamin that our body synthesizes thanks to sunlight.
- Emollient creams
They serve against xerodermia.
- Artificial tears
They serve against eye dryness.
- Oral isotretinoin
It is a drug for youthful acne. Reduces photosensitivity and provides protection against redness and skin irritation. However, use should be limited due to side effects.
SURGERY
Skin tumors and xerodermia often require surgical / aesthetic interventions on the skin of patients. These interventions consist of skin transplants, through dermatome, and in dermabrasion interventions . The choice of the most appropriate time to intervene is up to the dermatologist, who will make a fair assessment of the risks and benefits of the operation.
The same caution is also reserved for keratites. The corneal transplant, in fact, is performed, when the inflammations of the cornea are very serious.
PSYCHOLOGICAL SUPPORT
Individuals with xeroderma pigmentoso often suffer from depression . Among the causes of psychological distress, there are certainly behavioral restrictions, to which patients must adhere scrupulously, the aesthetic aspect and, in some cases, the neurological disorders.
In these situations, psychological support and the closeness of close family and friends is fundamental.
Prognosis
The prognosis of xeroderma pigmentos is never positive. In fact, whoever is affected is destined, sooner or later, to develop some form of cancer, in particular the skin and eyes.
Furthermore, the scrupulous observance of certain behavioral limitations, such as never leaving the day, and the aesthetic aspect, altered by photosensitivity and ocular disorders, significantly influence the quality of life.
Unfortunately, the treatments of the moment do not provide results that heal patients, but only alleviate the symptoms. The advice, which is usually given to family members in these cases, is to stay close to the patient, providing him with psychological support and helping him in the care of himself.
