Elastosis perforans serpiginosa associated with pseudo-pseudoxanthoma elasticum during treatment of Wilson's disease with penicillamine.
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.


METHODS
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.


CONCLUSIONS
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.
Bécuwe
Cécile
C
Services de Dermatologie, Hôpital de l'Hôtel-Dieu, Lyon, France.
Dalle
Stéphane
S
Ronger-Savlé
Sandra
S
Skowron
François
F
Balme
Brigitte
B
Kanitakis
Jean
J
Thomas
Luc
L
D000328:Adult; D002614:Chelating Agents / Q000009:adverse effects*; D003937:Diagnosis, Differential; D005148:Facial Dermatoses / Q000139:chemically induced / Q000175:diagnosis* / Q000473:pathology; D005260:Female; D006527:Hepatolenticular Degeneration / Q000188:drug therapy*; D006801:Humans; D009333:Neck; D010396:Penicillamine / Q000009:adverse effects*; D011561:Pseudoxanthoma Elasticum / Q000188:drug therapy*
D002614:Chelating Agents; D010396:Penicillamine