Definition:
De Sanctis-Cacchione syndrome is a very uncommon disorder distinguished by eye and skin manifestations of XP or xeroderma pigmentosum, occurring in involvement with mental retardation, neurological abnormalities, underdeveloped ovaries or testes, and abnormally short stature or dwarfism.
Diagnosis:
De Sanctis-Cacchione syndrome can be diagnosed through analysis of medical history and physical examination.
Treatment:
Treatment of De Sanctis-Cacchione syndrome includes medical care, consultations, medications, and avoidance of some activities. Medical care approach may include treating skin hypersensitivity, as well as providing supportive neurologic care. Each patient with the disorder needs regular monitoring by opthalmologist and dermatologist. Consulting a geneticist can help differentiate the disorder from other comparative conditions. Patients also need to avoid exposure to the sun in order to protect the skin, as well as wear protective clothing, dark glasses, and sunscreen if exposure to the sun can't be avoided.
Symptoms and Signs:
Symptoms and signs vary from eye and skin symptoms, to severe developmental and neurological involvement. Some symptoms of the disorder include photosensitivity, intelligence, weakened or absent reflexes, small head, growth deficiency, progressive mental retardation, xeroderma pigmentosa, and other neurological symptoms.
Causes:
This disorder is an uncommon autosomal recessive mannerism caused by the mutations of genes. The gene responsible is known as ERCC6. Mutations to this gene lead to the symptoms of De Sanctis-Cacchione syndrome.
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desanctiscacchionesyndrome
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