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This case report delves into pseudoxanthoma elasticum (PXE), a rare genetic disorder that manifests through distinctive skin lesions, particularly in a 32-year-old Somali woman. Highlighting the unique presentation in skin of colour, this report underscores the difficulty in diagnosing PXE in richly pigmented skin due to subtle and atypical presentations, the genetic implications of consanguinity and the necessity for increased awareness of PXE’s early dermatological signs, which can lead to timely referrals and prevent serious ocular and cardiovascular complications.
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Modak et al. (2026) studied this question.
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