Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis–Cacchione Syndrome and a Novel XPC Mutation

<div>(a) Pedigree chart of the patient. The arrow indicates the index patient. Filled squares indicate affected individuals. (b) Photographs of the patient showing alopecia, freckle-like skin lesions, and actinic keratosis in sun-exposed areas. (c) Cerebral MRI showing parenchymal volume loss, cerebellar atrophy, and white matter gliosis.</div>

Case Reports in Medicine

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Figure 2: Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis–Cacchione Syndrome and a Novel XPC Mutation 