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A ‘spot’ diagnosis
  1. Deshan F Sebaratnam,
  2. Robert P E Sarkany,
  3. Hiva Fassihi
  1. UK National Xeroderma Pigmentosum Service, St John's Institute of Dermatology, Guy's and St Thomas’ NHS Trust, London, UK
  1. Correspondence to Dr Deshan F Sebaratnam, UK National Xeroderma Pigmentosum Service, St John's Institute of Dermatology, Guy's and St Thomas' NHS Trust, Great Maze Pond, London SE1 9RT, UK; d.sebaratnam{at}hotmail.com

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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.

Figure 1

Heterogenous lentigines on the face and décolletage.

Figure 2

Sparing of the submental area following a distinctly sun-exposed distribution.

Questions 1

What is the most likely diagnosis based on this clinical presentation?

  1. Kindler syndrome

  2. Rothmund–Thomson syndrome

  3. Erythropoietic protoporphyria

  4. Xeroderma pigmentosum

Question 2

What would be the next step in investigation to confirm your diagnosis?

  1. Serum protoporphyrin …

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