Acta Scientific Clinical Case Reports

Case Report Volume 1 Issue 7

The First Case of Systemic Mastocytosis in a Xeroderma Pigmentosum Patient: An Association or a Coincidence?

Nadia Nabli1*, Amina Aounallah1, Ines Ouahchi2, Dorra H’mida2, Nesrine Ben Sayed3, Nihed Abdessaied4 and Mohamed Denguezli1*

1Department of Dermatology and Venerology, Farhat Hached University Hospital, Sousse, Tunisia
2Laboratory of Human Cytogenetic, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia
3Department of Hematology, Farhat Hached University Hospital, Sousse, Tunisia
4Department of Pathological Anatomy and Cytology, Farhat Hached University Hospital, Sousse, Tunisia

*Corresponding Author: Nadia Nabli, Department of Dermatology and Venerology, Farhat Hached University Hospital, Sousse, Tunisia.

Received: July 04, 2020; Published: July 17, 2020

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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

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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.



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