Abstract

Xeroderma Pigmentosum is a rare, autosomal recessive genodermatosis, characterized by an extreme photosensitivity as a consequence of a defect in nucleotide excision repair enzymes. Clinical manifestations are triggered by hypersensitivity to ultraviolet radiations, which results in multiple skin cancerous lesions. Few reports of extra cutaneous tumors in xeroderma pigmentosum patients included gastric cancer, bronchopulmonary cancer, colorectal cancer, astrocytoma, nephroblastoma, osteosarcoma and leukemia. Systemic mastocytosis is a rare disorder characterised by organ infiltration by neoplastic mast cells. The link between xeroderma pigmentosum and systemic mastocytosis is unclear and no case of association has been reported. Herein, we present the first tunisian case with a focus on the physiopathological similarities.

Keywords: Xeroderma Pigmentosum; Systemic Mastocytosis; Mast Cell; Genetics; C-KIT

References

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Citation

Citation: Nadia Nabli., et al. “The First Case of Systemic Mastocytosis in a Xeroderma Pigmentosum Patient: An Association or a Coincidence?" Acta Scientific Clinical Case Reports 1.7 (2020): 19-21.

Copyright

Copyright: © 2020 Nadia Nabli., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.