When the eye leads to the diagnosis of pseudoxanthoma elasticum: a case revealed by angioid streaks and choroidal neovascularisation
Dear Editor, Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive disorder caused by pathogenic variants in the ABCC6 gene, resulting in progressive calcification and fragmentation of elastic fibres involving the skin, retina, and cardiovascular system. Cutaneous manifestations classically consist of yellowish papules and plaques affecting flexural areas, particularly the lateral neck and axillae, although cutaneous findings may occasionally be subtle. Ocular involvement is characterised by angioid streaks, representing breaks in Bruch’s membrane that may predispose to choroidal neovascularisation (CNV), retinal haemorrhage, and progressive visual impairment. [...]
Authors
- Francesco Tonon (ORCID: https://orcid.org/0000-0002-9493-4896)
- Mariateresa Rossi (ORCID: https://orcid.org/0000-0002-5101-159X)
- Cesare Ariasi (ORCID: https://orcid.org/0000-0002-6224-5017)
- Simone Soglia (ORCID: https://orcid.org/0000-0002-2882-2036)
- Luigi Mori (ORCID: https://orcid.org/0009-0004-7178-8373)
- Marina Venturini (ORCID: https://orcid.org/0000-0001-6800-3695)
- Iacopo Ghini
- Piergiacomo Calzavara‐Pinton (ORCID: https://orcid.org/0000-0002-0935-7204)
- Sara Mezzana (ORCID: https://orcid.org/0009-0007-0419-6193)
- Mariachiara Arisi (ORCID: https://orcid.org/0000-0001-6307-6174)
- Anna Cancarini (ORCID: https://orcid.org/0000-0003-2707-1637)
- Laura Grigolato
- Nicola Baga
Institutions
- Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia (IT)
- University of Brescia (IT)
Publication Details
- Journal
- Dermatology Reports
- Published
- 2026-11-03
- DOI
- https://doi.org/10.4081/dr.2026.11012
- Primary Topic
- Dermatological and Skeletal Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00