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Severe Facial-Disfiguring Xeroderma Pigmentosum With Rapidly Progressing Malignant Tumors

Educational Objective
Based on this clinical scenario and the accompanying image, understand how to arrive at a correct diagnosis.
1 Credit CME

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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C. Xeroderma pigmentosum

The patient underwent palliative tumor excision and skin graft resurfacing. Intraoperative frozen sections showed clear margins. The histopathologic examination confirmed squamous cell carcinoma, basal cell carcinoma, and angiosarcoma. All grafts survived with acceptable cosmetic results at the 50-day follow-up (Figure 2). The patient showed improved self-esteem, absent malodor, and was reintegrated in social activities. The patient was referred to a specialized cancer center for further management and follow-up. The patient’s parents were recommended to pursue prenatal counseling when they intended to conceive another child.

Xeroderma pigmentosum (XP), first described by Hebra and Kaposi in 1874, is a rare autosomal recessive genetic disorder.1 Mutations of the XPA through XPG genes and PolH gene disrupt the DNA repair machinery and result in characteristic diseases. Genetic sequencing and functional cellular tests are confirmative; however, XP can be diagnosed clinically based on photosensitivity, early onset of pigmented freckling, and skin cancer predisposition. Xeroderma pigmentosum affects 1 in 20 000 people in Japan and 1 in 250 000 people in the United States, and the prevalence is increased in areas where consanguinity is common.2 The patient described herein had such severe tumor burden at a young age and a simultaneous involvement of 3 kinds of tumors, especially angiosarcoma, that had rarely been reported.

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Article Information

Published Online: December 13, 2018. doi:10.1001/jamaoto.2018.3218

Correction: This article was corrected on June 18, 2020, to add co–first authorship notice to the end matter.

Corresponding Author: Qingfeng Li, MD, PhD, Department of Plastic and Reconstructive Surgery, Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine, 639 Zhizaoju Road, Shanghai 200011, PR China (dr.liqingfeng@yahoo.com).

Conflict of Interest Disclosures: Dr Zan is supported by grants from the National Natural Science Foundation of China (81471857 and 81772086) and the Shanghai Municipal Education Commission–Gaofeng Clinical Medicine Grant (20161424). Dr Li is supported by a grant from the National Natural Science Foundation of China (81701901). No other disclosures are reported.

Additional Contributions: We would like to extend sincere thanks to Henghua Zhou, MD, PhD, of Shanghai Ninth People’s Hospital for her kindness in providing the pathological image of this patient. She was not compensated for her contributions. We also thank the patient’s parents for granting permission to publish this information.

Additional Information: Drs Zan and Huang are co–first authors of this article.

References
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