[Skip to Navigation]
Clinical Challenge
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. 2019;145(2):185-186. 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.

Add or change institution