DeSanctis–Cacchione syndrome

Autosomal recessive - en

DeSanctis–Cacchione syndrome is a rare genetic disorder characterized by a combination of xeroderma pigmentosum (XP) and neurological abnormalities. This syndrome is named after the Italian physicians who first described it, DeSanctis and Cacchione.

Clinical Features

Individuals with DeSanctis–Cacchione syndrome exhibit symptoms of xeroderma pigmentosum, which include extreme sensitivity to ultraviolet (UV) radiation, leading to a high risk of skin cancer. In addition to the dermatological manifestations, patients also present with a range of neurological abnormalities such as intellectual disability, microcephaly, ataxia, and spasticity.

Genetics

DeSanctis–Cacchione syndrome is inherited in an autosomal recessive manner. Mutations in genes responsible for nucleotide excision repair (NER) are implicated in the pathogenesis of this syndrome. These genes are crucial for repairing DNA damage caused by UV radiation.

Diagnosis

The diagnosis of DeSanctis–Cacchione syndrome is based on clinical evaluation, family history, and genetic testing. Skin biopsy and fibroblast cultures can be used to assess the DNA repair capacity of cells. Genetic testing can identify mutations in the NER pathway genes.

Management

There is no cure for DeSanctis–Cacchione syndrome. Management focuses on protecting the skin from UV radiation, regular dermatological examinations to monitor for skin cancer, and supportive care for neurological symptoms. Patients are advised to avoid sun exposure and use protective clothing and sunscreen.

Prognosis

The prognosis for individuals with DeSanctis–Cacchione syndrome varies depending on the severity of the neurological and dermatological symptoms. Early diagnosis and rigorous protection from UV radiation can improve the quality of life and reduce the risk of skin cancer.

Related Pages

• Xeroderma pigmentosum
• Nucleotide excision repair
• Autosomal recessive
• Intellectual disability
• Microcephaly
• Ataxia
• Spasticity

External Links

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