1. Elastosis perforans serpiginosa Associated with Pseudo-Pseudoxanthoma elasticum during Treatment of Wilson’s Disease with Penicillamine
- Author
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Brigitte Balme, S. Ronger-Savle, Cécile Bécuwe, Stéphane Dalle, Luc Thomas, Jean Kanitakis, and François Skowron
- Subjects
Adult ,Pathology ,medicine.medical_specialty ,Acquired perforating dermatosis ,Hyperkeratosis ,Dermatology ,Diagnosis, Differential ,Hepatolenticular Degeneration ,Dermis ,medicine ,Humans ,Pseudoxanthoma Elasticum ,Chelating Agents ,business.industry ,Penicillamine ,medicine.disease ,Pseudoxanthoma elasticum ,Dyskeratosis ,Wilson's disease ,medicine.anatomical_structure ,Female ,business ,Facial Dermatoses ,Neck ,Elastic fiber ,Elastosis perforans serpiginosa - Abstract
Background: Elastosis perforans serpiginosa (EPS) is a reactive perforating dermatosis characterized by the elimination of abnormal elastic fibers from the upper dermis through the epidermis. In a few cases, it occurs as a side effect of treatment by D-penicillamine (DPA). The first case of EPS induced by DPA was described in 1972 in a patient treated for Wilson’s disease. Subsequently, cutaneous changes resembling pseudoxanthoma elasticum (PXE) were observed in patients treated with DPA and were reported as pseudo-PXE. Case Report: We report herein the clinical, pathological and ultrastructural study of 2 new cases of DPA-induced EPS and pseudo-PXE. These patients had been treated for Wilson’s disease since 14 and 16 years, respectively. Characteristic abnormal elastic fibers were found on histopathological examination of both EPS and pseudo-PXE skin and confirmed by an ultrastructural study. There was no ABCC6 mutation. Discussion: Penicillamine is able to induce widespread, cutaneous and systemic, elastic fiber damage. Our patients present typical features of DPA-induced elastosis, presenting as EPS and pseudo-PXE. ABCC6 mutation is associated with PXE and, as expected, it was absent in our cases of pseudo-PXE. This elastopathy has been related to morphologic changes in elastic fibers secondary to prolonged therapy in most cases. DPA may interfere with elastin cross-linking through inhibition of the enzyme lysyl oxidase, or by formation of complexes with the cross-linked precursors, impairing a normal maturation of elastic fibers. However, no fatal complication of DPA-induced elastopathy has been reported so far. An improvement of the cutaneous lesions is expected after the drug discontinuation.
- Published
- 2005