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Clinical Challenge
Pathology
December 13, 2018

Severe Facial-Disfiguring Xeroderma Pigmentosum With Rapidly Progressing Malignant Tumors

Author Affiliations
  • 1Department of Plastic and Reconstructive Surgery, Shanghai Ninth People’s Hospital, Shanghai JiaoTong University School of Medicine, Shanghai, China
JAMA Otolaryngol Head Neck Surg. Published online December 13, 2018. doi:10.1001/jamaoto.2018.3218

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.

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