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Updated: Jun 1, 2026
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Published on: September 7, 2013
Xeroderma pigmentosum in an African-American
Ryan K Orosco1, Timothy Wang, Patrick J Byrne
1Department of Otolaryngology-Head and Neck Surgery Johns Hopkins Hospital, Baltimore, MD, USA. rorosco@ucsd.edu
Summary
Xeroderma pigmentosum (XP) is rare in African-Americans. This case details a middle-aged woman with XP who developed multiple skin cancers, highlighting the need for vigilant monitoring and early intervention in diverse populations.
Area of Science:
- Dermatology
- Genetics
- Oncology
Background:
- Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by defective DNA repair, leading to extreme photosensitivity and a high risk of cutaneous malignancies.
- XP predominantly affects individuals of European descent, with limited documented cases in African-American populations.
Observation:
- A 34-year-old African-American woman presented with xeroderma pigmentosum.
- She developed her first cutaneous squamous cell carcinoma (SCC) at age 23, followed by additional SCCs, basal cell carcinomas, and melanoma in situ.
- Management involved strict sun avoidance, photoprotection, and multiple surgical excisions.
Findings:
- This case represents a rare presentation of XP in a middle-aged African-American woman.
- The patient experienced early-onset and diverse cutaneous neoplasms, including SCC, BCC, and melanoma.
- The clinical course was prolonged, underscoring the aggressive nature of XP-associated malignancies.
Implications:
- XP can manifest in diverse demographics, challenging typical presentation expectations.
- Frequent dermatological surveillance and a low threshold for intervention are crucial for managing XP patients.
- This case emphasizes the importance of considering XP in individuals of African descent presenting with multiple or early-onset skin cancers.
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