Pseudoxanthoma elasticum: a rare case report


  • Noreen Munshi R. D. Gardi Medical College, Surasa, Madhya Pradesh, India
  • Krishnendra Varma R. D. Gardi Medical College, Surasa, Madhya Pradesh, India



Pseudoxanthoma elasticum, Connective tissue disease, ABCC6 gene


Pseudoxanthoma elasticum (PXE) is a hereditary systemic connective tissue disease affecting mainly the skin, retina and cardiovascular system. Pathologically, it is characterized by mineralization and fragmentation of elastic fibers (so-called "elastorhexia"). PXE is associated with mutations in the ABCC6 (ATP binding cassette subtype C number 6) gene. Women are affected more than men. A 22-year-old woman came to our department with complaints of small, yellowish raised lesions in rows or lacy pattern on her neck since 2 years, some of which coalesced to form larger lesions. She also complains that the skin has been soft, flabby, and wrinkled since 2 years in the armpits, trunk, groin, and knees. On examination, the lesions were slightly pebbly in appearance; such papular lesions tend to coalesce gradually to form plaques with a cobblestone appearance. On histopathological examination, elastic fibers appear basophilic due to calcium deposition. The fibers were fragmented, swollen, and clustered in the middle and deep reticular dermis. The collagen fibers were split. Based on the above findings, a diagnosis of PXE was made. Due to the rarity of the disease, we are reporting this case. The course and prognosis were explained to the patient. Most of the pathological changes associated with PXE are irreversible, but prophylactic measures can be taken to minimize the course of the disease.

Author Biography

Noreen Munshi, R. D. Gardi Medical College, Surasa, Madhya Pradesh, India

Senior Resident - Department of Dermatology


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