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Published on: March 7, 2017
[Xeroderma pigmentosum associated with intracerebral tumor: a case report]
K El Ouazzani Chahdi1, A Karim, Y Salhi
1Service d'ophtalmologie A, hôpital des spécialités, CHU Rabat-Salé, appartement 3, immeuble 4, résidence AlHamd, avenue Hassan II, Témara, Maroc. k.elouazzani@hotmail.fr
Abstract:
Patients with the genetic disease xeroderma pigmentosum (XP) lack the ability to carry out a specific type of DNA repair process called nucleotide excision repair (NER). The NER pathway plays a critical role in the repair of DNA damage resulting from ultraviolet (UV) radiation. We report a case of a patient presenting a cutaneous form of XP. She presented acute paralysis of the third cranial nerve with cutaneous anesthesia. Nuclear magnetic resonance imaging revealed an intracranial tumor. She underwent surgery with incomplete tumor resection; anatomopathological study showed a schwannoma. Complementary radiosurgery was performed. The association between XP and neurological cancer is rare but not impossible. A priori, it would be assumed that the major medical outcome of hereditary deficiencies in DNA repair processes would be an increased risk of cancer. Indeed, there is an increased risk of cancer in several known DNA repair deficiencies including XP.
Insights
Xeroderma pigmentosum (XP) patients have impaired nucleotide excision repair (NER), increasing cancer risk. This case highlights a rare association between XP and neurological cancer (schwannoma), emphasizing DNA repair
Area of Science:
- Genetics
- Oncology
- Neurology
Background:
- Xeroderma pigmentosum (XP) is a rare genetic disorder characterized by deficient nucleotide excision repair (NER).
- NER is crucial for repairing DNA damage, particularly from ultraviolet (UV) radiation.
- Individuals with XP have a significantly increased risk of developing various cancers.
Observation:
- A patient with the cutaneous form of XP presented with acute paralysis of the third cranial nerve and cutaneous anesthesia.
- Magnetic resonance imaging revealed an intracranial tumor.
- Surgical resection of the tumor was incomplete, with pathological analysis identifying it as a schwannoma.
Findings:
- The patient underwent complementary radiosurgery for the schwannoma.
- This case documents a rare occurrence of a neurological cancer (schwannoma) in a patient with XP.
- While XP is primarily linked to skin cancers due to UV damage, this finding suggests a broader oncological risk spectrum.
Implications:
- The association between XP and neurological cancer, though rare, expands the known clinical manifestations of DNA repair deficiencies.
- This case underscores the importance of considering diverse cancer types in XP patients beyond those typically associated with UV exposure.
- Further research may elucidate potential mechanisms linking NER deficiency to the development of neurological tumors.
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