DCS stands for DeSanctis-Cacchione Syndrome. The DeSanctis-Cacchione syndrome as a hereditary neurocutaneous syndrome is characterized by a combination of strong photosensitivity and neurological deficits. It is an increasingly progressive disease that leads to premature death. The therapy consists of lifelong avoidance of sunlight.
What is DeSanctis-Cacchione Syndrome?
The DeSanctis-Cacchione syndrome is a special form of Xeroderma pigmentosum, a hereditary hypersensitivity to sunlight. The typical symptoms of Xeroderma pigmentosum are combined with serious neurological symptoms in this form. The neurological deficits usually intensify over time.
Motor and cognitive skills that have already been learned are regressed. At the same time, skin reddening, blisters and various changes develop on the skin under the influence of solar radiation, which can quickly degenerate into skin cancer. DeSanctis-Cacchione syndrome was first described in 1932 by De Sanctis and Caccione.
It is a very rare disease, of which only about 20 cases have been described in the literature. Today the term DeSanctis-Cacchione syndrome is no longer common. The syndrome is mainly dealt with under the disease Xeroderma pigmentosum.
Developments associated with mental and motor retardation have been noted in approximately 30 percent of patients with xeroderma pigmentosum. The relationship between cutaneous and neurological symptoms in this disease has not yet been clearly established.
Causes
DeSanctis-Cacchione syndrome, like classic Xeroderma pigmentosum, is caused by changes in genes that encode proteins in the DNA repair system. These proteins repair gene changes by cutting out the areas of DNA where incorrect nucleotides have been incorporated and replacing them with the corrected sequences.
If one or more of these proteins are genetically modified, the repair process can no longer proceed successfully. Then the mutations caused by the UV light of the sun can no longer be eliminated on the exposed areas. When UV light is absorbed, pyrimidine dimers are formed in the DNA, which lead to incorrect incorporation of nucleotides when the DNA is broken down during cell division.
Repairing these defects is usually not a problem with genetically intact repair proteins. A total of eight genes are responsible for coding repair proteins. The symptoms of xeroderma pigmentosum, which relate solely to the skin changes, can be caused by mutations in one of these genes.
In the special case of DeSanctis-Cacchione syndrome, a mutation of the ERCC6 gene on chromosome 10 is suspected. How the neurological deficits result from this mutation is still not understood. The mutation is inherited as an autosomal recessive trait. People affected by the disease have two defective genes in their genetic make-up, which they must have inherited from their parents in equal parts.
Symptoms, ailments & signs
The DeSanctis-Cacchione syndrome is characterized by three different symptom complexes. First of all, the symptoms of classic xeroderma pigmentosum appear. On skin areas that have been irradiated by UV light, inflammations form immediately, which change in a wart-like manner and later even degenerate into cancer. Eye changes also occur.
It comes to a keratitis, which consequently leads to a corneal clouding and the formation of small blood vessels in the eye. In addition, the formation of is squamous cell carcinoma and melanoma of the eye possible. A second complex of symptoms is characterized by varying degrees of mental retardation (oligophrenia), language disorders and language development.
Lack of reflexes, involuntary movements, spastic paralysis, seizures, hearing loss and microcephaly (reduced head) also occur. Furthermore, disorders of the porphyrin metabolism, growth disorders, bone maturation disorders, hypogonadism and disorders of the corticoid metabolism occur.
The symptoms already exist in early childhood and become increasingly worse. This is especially true for the neurological complaints. In contrast to the classic xeroderma pigmentosum, life expectancy with DeSanctis-Cacchione syndrome is even lower. The neurological failures can lead to death in childhood, while skin problems can largely be treated well by avoiding UV radiation.
Diagnosis
The diagnosis can be made on the basis of clinical symptoms in combination with cytological evidence of the DNA repair defect. In the differential diagnosis, the clinical pictures of Cockayne syndrome, cerebro-oculo-facio-skeletal syndrome (COFS), trichothiodystrophy, UV-sensitive syndrome, Rothmund-Thomson syndrome or erythropoietic protoporphyria must be distinguished.
Imaging procedures can detect changes within the skull, such as enlarged cerebrospinal fluid spaces. EEG changes document seizures and other neurological deficits.
When should you go to the doctor?
Since DeSanctis-Cacchione syndrome leads to early death in most cases, the disease cannot be fully treated. However, some of the discomfort can be alleviated. A doctor should be consulted if warts develop on the skin after exposure to the sun. Sudden mental retardation or language difficulties can also indicate this syndrome. Treatment is also necessary if the person concerned has a hearing loss or has seizures.
If the cramps are very strong and cannot be resolved, an emergency doctor must be contacted. Disturbances in growth usually indicate the DeSanctis-Cacchione syndrome and must be examined by a doctor. The diagnosis of the syndrome is usually confirmed by various medical exams. First and foremost, however, a pediatrician should be consulted. In the case of cancer, surgical treatment is necessary.
Treatment & Therapy
A causal therapy for DeSanctis-Cacchione syndrome and Xeroderma pigmentosum is not yet possible. Treatment is mainly limited to protecting the patient from the sun’s UV radiation. Since vitamin D deficiency is also common, appropriate supplements must be given. Vitamin A should also be taken as a preventive measure to achieve a minimum level of protection against UV radiation.
The skin and eyes must be checked regularly for new carcinoma formation in order to be able to react quickly. The immediate removal of the carcinoma is essential. Life expectancy can be extended through extensive protection from sunlight and rapid treatment in the event of new skin cancer.
With classic xeroderma pigmentosum it is possible to live up to 60 years. Since the neurological deficits in DeSanctis-Cacchione syndrome cannot be treated as well therapeutically, the life expectancy with this special form of Xeroderma pigmentosum is very low.
Outlook & forecast
Since DeSanctis-Cacchione syndrome is a hereditary disease, it cannot be treated with a causal treatment. Those affected are therefore only offered symptomatic therapy that can alleviate the symptoms.
However, even with treatment, life expectancy is greatly reduced and the person concerned dies prematurely. With DeSanctis-Cacchione syndrome, those affected suffer from severe developmental disorders and mental retardation. Skin problems also occur, with patients also suffering from hearing problems and seizures. The quality of life of the person affected is therefore considerably restricted and reduced by the DeSanctis-Cacchione syndrome. It therefore comes to death in childhood, since the neurological deficits can usually not be cured.
For this reason, the treatment of DeSanctis-Cacchione syndrome is only aimed at reducing the symptoms. The patients are therefore dependent on regular examinations in order to detect tumors at an early stage. Most skin complaints can also be reduced with the help of medication. Mental retardation and growth disorders can only be treated to a very limited extent. However, in rare cases, people can reach adulthood.
Prevention
If there is a family history of xeroderma pigmentosum, the risk of DeSanctis-Cacchione syndrome or xeroderma pigmentosum can be assessed by means of genetic counseling and human genetic testing if the child wishes to have children. Patients with DeSanctis-Cacchione syndrome can largely avoid the skin symptoms through consistent protection from UV radiation. However, this does not apply to the neurological failures.
Aftercare
With DeSanctis-Cacchione syndrome, there are usually no special follow-up measures available to those affected, as the disease cannot be completely cured. According to this, only a purely symptomatic treatment can take place, whereby the affected person is dependent on lifelong therapy. Since this is a genetically determined disease, genetic counseling can also be carried out if you want to have children in order to prevent the recurrence of DeSanctis-Cacchione syndrome.
As a rule, the earlier the disease is diagnosed, the better the further course of the disease. The treatment itself is usually accompanied by taking medication. The person affected should ensure that they are taken regularly with the correct dosage in order to alleviate the symptoms.
Direct sunlight should also be avoided, which of course makes everyday life for the person affected much more difficult. Furthermore, the patients are dependent on the help and support of family and friends, which can prevent psychological upsets or depression. Furthermore, regular examinations by a doctor are necessary in order to identify tumors quickly and also to treat them.
You can do that yourself
The patient cannot take self-help measures that treat the cause of DeSanctis-Cacchione syndrome.
The best self-help measure against the consequences of photosensitivity is to avoid UV light, especially the blazing sun, as much as possible. Since the syndrome is already noticeable in toddlerhood and those affected are often mentally retarded, great attention is required on the part of family members.
Children who suffer from DeSanctis-Cacchione syndrome should never play in the blazing sun. Staying outdoors should be avoided as much as possible, especially during lunchtime. Passenger vehicles should be equipped with very darkened and UV-protected windows for the back seat. If this is not possible, car journeys must be postponed as far as possible to the very early morning or late evening in good weather.
If you have your own garden, you should plant it in as much shade as possible so that your child can occasionally spend time outdoors.
If skin changes, such as blisters, occur after exposure to sunlight, the affected parts of the body must be observed very closely and presented to a doctor. It is not uncommon for such skin lesions to mutate into malignant tumors.
Therapies and educational measures, which should be taken early, help against mental retardation and restricted motor skills, which patients often suffer from.
