A 6-year-old boy presented with several tumoral lesions on sun-exposed skin. These lesions developed from local freckles beginning at 6 months of age and gradually spread with protruding growth. Over the past 2 years, tumors started to form and develop rapidly, becoming ulcerative and bleeding. The patient was intellectually standard and denied blurred vision, impaired hearing, or any other systemic symptoms. He lived in a remote area in China. His parents were first cousins, but no similar cutaneous presentation was reported by other relatives.
Zan T, Huang X, Li Q. Severe Facial-Disfiguring Xeroderma Pigmentosum With Rapidly Progressing Malignant Tumors. JAMA Otolaryngol Head Neck Surg. 2019;145(2):185–186. doi:10.1001/jamaoto.2018.3218
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