A female patient with xeroderma pigmentosum and multiple basal cell carcinomas was treated with a hedgehog pathway inhibitor (vismodegib), which successfully treated the majority of her basal cell carcinomas while preventing the appearance of new lesions. The sum diameter of lesions showed a 61% decrease after 16.5 months of treatment, although after 18.5 months of treatment, a persistent lesion showed progression and metatypical characteristics; adverse events included persistent alopecia muscle cramps, dysgeusia, and amenorrhea. Despite these limitations, vismodegib may have a role in the treatment of some patients with xeroderma pigmentosum.
Keywords: alopecia; heghehog pathway inhibitors; metatypical BCC; vismodegib; xeroderma pigmentosum.
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