An Atrophic, Telangiectatic Patch at the Distal Border of the Tongue: A Mucous Membrane Manifestation of Xeroderma Pigmentosum

Abstract

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by clinical and cellular sensitivity, pigmentary changes, and early development of malignancies in sun-exposed mucocutaneous and ocular structures due to a defective ability to repair intracellular DNA damage. Individuals with XP also have a greater frequency of oral cancer, particularly squamous cell carcinoma of the anterior third of the tongue. The current study reports four cases of XP that exhibited a characteristic crescent-shaped, atrophic, telangiectatic area on the distal border of the tongue and correlates this lesion with the development of tumors at this site during follow-up. The tongue lesion was photographed and biopsied in the four patients. During routine follow-up visits, new biopsies were performed if additional tongue lesions were observed. The studied lesions were similar in the four patients. During follow-up, squamous cell carcinoma developed in one patient and pyogenic granuloma developed in three patients and was relapsing in one. The lesion remained stable in one patient during the study. The atrophic and telangiectatic patches probably occur because of chronic sun damage to the exposed portion of the tongue, and this area has a high predisposition for the development of benign and malignant tumors.

Primary gingival squamous cell carcinoma in a xeroderma pigmentosum type C patient

“…Then again, primary gingival SCC has only been described in Fanconi anemia or after bone marrow transplantation; XP being associated with SCC of the lips and tip of the tongue. [5][6][7] Based on clinicopathological and radiological findings, the tumour of our XP-C patient with a Mayotte's founder effect mutation 4 could not be explained by a metastatic process or a local invasion from a prior skin SCC. Superior lip ulceration occurred after gingival tumour enlargement.…”

Clinical and Mutational Spectrum of Xeroderma Pigmentosum in Egypt: Identification of Six Novel Mutations and Implications for Ancestral Origins

“…A hallmark of XP is the high susceptibility to UV induced skin, ocular, and oral cancers [1,[8][9][10]. A 10,000-fold increased risk for basal cell carcinoma (BCC) and squamous cell carcinoma (SCC), and a 2000-fold risk for melanoma skin cancers were estimated at remarkably younger age compared to general population.…”

Systemic conditions associated with increased risk to develop oral squamous cell carcinoma: Systematic review and meta‐analysis

“…110,111 A heterogeneous group of dermatologic diseases presents oral manifestations, and some of them have a wellestablished susceptibility for OSCC development. 87 Herein, we found nine disorders with dermatologic manifestations co-occurring in patients with OSCC. Xeroderma pigmentosum and dyskeratosis congenital were the most common.…”