Effective Sequential and Rotational Therapy in a Patient With Xeroderma Pigmentosum

Case Presentation

The patient, an 11-year-old boy, was diagnosed with xeroderma pigmentosum (XP) characterized by a mutation in intron 6 of the XPC gene (c.779+1G>A). He presented with four infiltrative squamous cell carcinomas, multiple hypertrophic actinic keratoses, and six basal cell carcinomas, five of which were excised within the previous year. The patient rigorously avoids sunlight and shields himself from artificial sources of ultraviolet radiation (Figure 1A–C). Treatment was initiated with 5% imiquimod cream, applied three times per week on a rotational basis to the following regions: 1) left side of the face; 2) right side of the face; 3) left side of the neck and upper back; 4) right side of the neck and upper back. Each area received treatment for 4–5 weeks until the onset of mild erythema. Notably, erythema and inflammation also manifested in untreated areas with actinic keratoses. Since starting this regimen two years ago, no new surgical intervention has been required (Figure 1D–F).

Figure 1.

(A–C) Before initiation with imiquimod, he presented squamous cell carcinomas, multiple hypertrophic actinic keratoses, and basal cell carcinomas. (D–F) Two years since starting imiquimod, no new surgical intervention has been required.

Teaching Point

Although alternative therapies have been explored for this patient [1, 2], the tolerability of this particular regimen has improved compliance, facilitating extended intervals between clinical evaluations.