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A 5-year-old girl from a non-consanguineous family presented with marked ‘freckling’ from 12 months of age and eight basal cell carcinoma (BCC); the first at the age of 4 years. There was no history of photosensitivity or exaggerated sunburn and her medical history was otherwise unremarkable. Examination demonstrated heterogeneous lentigines on her face, décolletage and hands (figure 1), with sparing of the submental area (figure 2), following a distinctly sun-exposed distribution. Adjacent to the left nasal ala, a surgical scar from previous excision of a BCC was also apparent.
What is the most likely diagnosis based on this clinical presentation?
What would be the next step in investigation to confirm your diagnosis?
Serum protoporphyrin …
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