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Case Study: March 2013
History
- 25 year old male
- Cutaneous yellowish papules on neck and axilla
- Skin biopsy
- Fig 1 and Fig 2 – H&E
- Fig 3 – EVG of dermis
- Fig 4 – Alizarin Red of dermis
Questions
- What does the skin biopsy show?
- What is the diagnosis?
- What are the ophthalmic manifestations of this condition?
- What is the genetic defect in this condition?
Click to show answers
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- Curly, frayed basophilic elastic fibres in reticular dermis. Encrusted with calcium
- Pseudoxanthoma elasticum (PXE)
- Angioid streaks, choroidal neovascular membranes (CRNVM +/- haemorrhage and disciform scarring), RPE atrophy, peau d’orange, choroidal ruptures and retinal haemorrhages (in cases of PXE with trauma), keratoconus
- ABCC6 gene cause pseudoxanthoma elasticum. 300 distinct mutations identified in pseudoxanthoma elasticum. Mutations lead to an absent or non-functional MRP6 protein, an acronym for multidrug resistance-associated protein 6
