Summary about Disease
De Sanctis-Cacchione syndrome (DSCS) is a rare, autosomal recessive genetic disorder characterized by a combination of xeroderma pigmentosum (XP) and neurological abnormalities. XP is a condition causing extreme sensitivity to ultraviolet (UV) radiation, leading to a high risk of skin cancers and eye problems. The neurological problems associated with DSCS can include intellectual disability, microcephaly, progressive neurological degeneration, and sensorineural deafness. The severity of symptoms varies significantly among individuals.
Symptoms
Skin: Extreme sensitivity to sunlight (photosensitivity), severe sunburn with blistering, freckle-like spots appearing early in life (often before age 2), dry and scaly skin (xeroderma), increased risk of skin cancers (basal cell carcinoma, squamous cell carcinoma, melanoma).
Eyes: Photophobia (sensitivity to light), corneal inflammation (keratitis), clouding of the cornea, increased risk of ocular cancers.
Neurological: Intellectual disability, microcephaly (abnormally small head), progressive neurological degeneration (leading to ataxia, spasticity, seizures), sensorineural deafness (hearing loss due to damage to the inner ear or auditory nerve), decreased reflexes, difficulty walking and coordinating movements.
Other: Growth retardation, delayed development.
Causes
DSCS is caused by mutations in genes involved in the nucleotide excision repair (NER) pathway. The NER pathway is responsible for repairing DNA damage caused by UV radiation. In DSCS, these genes are mutated, impairing the body's ability to repair UV-induced DNA damage. The specific genes involved in DSCS are those associated with Xeroderma Pigmentosum. It is inherited in an autosomal recessive pattern, meaning that both parents must carry a copy of the mutated gene for their child to be affected.
Medicine Used
4. Medicine used There is no specific cure for DSCS. Treatment focuses on managing the symptoms and preventing complications.
Skin: Strict sun protection is critical, including avoiding sun exposure, wearing protective clothing (long sleeves, hats, sunglasses), and using broad-spectrum sunscreen with a high SPF. Regular skin examinations by a dermatologist are essential to detect and treat skin cancers early. Topical medications may be used to treat dry skin and inflammation. Skin cancers are typically treated with surgery, radiation therapy, or topical chemotherapy.
Eyes: Artificial tears can help alleviate dry eye. Surgery may be needed to treat corneal clouding or tumors.
Neurological: Management of neurological symptoms is supportive. Physical therapy and occupational therapy can help improve motor skills and coordination. Speech therapy can help with communication difficulties. Medications may be used to control seizures. Hearing aids can help with hearing loss.
Other: Nutritional support may be needed to address growth retardation.
Is Communicable
No, De Sanctis-Cacchione syndrome is not communicable. It is a genetic disorder.
Precautions
Strict sun protection: Avoid direct sunlight, especially during peak hours (10 AM to 4 PM). Use broad-spectrum sunscreen with a high SPF (30 or higher) on all exposed skin, even on cloudy days. Reapply sunscreen every two hours, or more often if swimming or sweating. Wear protective clothing, including long sleeves, long pants, wide-brimmed hats, and UV-blocking sunglasses.
Regular medical follow-up: Regular visits to a dermatologist are essential for skin cancer screening. Ophthalmological exams are needed to monitor eye health. Neurological evaluations are important to track neurological progression and manage symptoms.
Genetic counseling: Genetic counseling is recommended for families with a history of DSCS to understand the risk of having affected children.
Avoidance of other DNA-damaging agents: Minimize exposure to X-rays and other sources of radiation.
How long does an outbreak last?
DSCS is not an outbreak or infection. It is a chronic, lifelong condition. The symptoms and disease progression persist throughout the individual's life.
How is it diagnosed?
Clinical evaluation: A diagnosis of DSCS is typically suspected based on the presence of characteristic symptoms, including extreme sun sensitivity, early-onset skin cancers, and neurological abnormalities.
Skin biopsy: A skin biopsy can confirm the diagnosis of XP by demonstrating impaired DNA repair.
Genetic testing: Genetic testing can identify mutations in the genes known to cause XP and DSCS.
Neurological examination: A neurological examination, including imaging studies (MRI of the brain), can help assess the extent of neurological involvement.
Hearing test: Audiometry is used to assess the presence and severity of hearing loss.
Timeline of Symptoms
9. Timeline of symptoms The timeline of symptoms varies from person to person.
Early infancy/childhood: Extreme sun sensitivity and severe sunburns often appear in the first few months of life. Freckle-like spots develop on sun-exposed skin. Eye problems may also develop early on.
Childhood/Adolescence: Skin cancers may begin to appear during childhood or adolescence. Neurological symptoms, such as intellectual disability, ataxia, and hearing loss, typically become apparent during childhood.
Adulthood: Neurological degeneration may progress, leading to increasing disability. The risk of skin cancers remains high throughout life.
Important Considerations
DSCS is a severe and debilitating condition that significantly impacts the quality of life.
Early diagnosis and comprehensive management are crucial to minimizing complications and improving outcomes.
Multidisciplinary care involving dermatologists, neurologists, ophthalmologists, geneticists, and other specialists is essential.
Support groups and advocacy organizations can provide valuable resources and support for individuals with DSCS and their families.
Research is ongoing to develop new treatments for DSCS.