Unveiling the clinical spectrum of pseudoxanthoma elasticum: A report of two cases

Authors

  • Zahra Arooba Department of Dermatology, King Edward Medical University/ Mayo Hospital, Lahore
  • Amina Khalid Department of Dermatology, King Edward Medical University/ Mayo Hospital, Lahore
  • Shahbaz Aman Department of Dermatology, King Edward Medical University/ Mayo Hospital, Lahore

Keywords:

Pseudoxanthoma elasticum, Elastic tissue, Autosomal recessive

Abstract

Pseudoxanthoma elasticum (PXE) is a rare inherited disorder characterized by progressive disintegration as well as calcification of elastic tissue, resulting in cutaneous, ophthalmic, cardiovascular and other systemic abnormalities. It is an autosomal recessive condition caused by alterations in the ABCC6 gene. We report two cases of pseudoxanthoma elasticum with varying degrees of cutaneous and systemic manifestations of the disease. Both patients had characteristic histopathological changes on skin biopsies and fulfilled the diagnostic criteria for definite PXE. The goal is to demonstrate diverse clinical facets of the disease and to emphasize clinical clues for prompt diagnosis in order to minimize the associated complications.  

References

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Published

2024-04-21

How to Cite

1.
Arooba Z, Khalid A, Aman S. Unveiling the clinical spectrum of pseudoxanthoma elasticum: A report of two cases. J Pak Assoc Dermatol [Internet]. 2024Apr.21 [cited 2024May22];34(2):551-5. Available from: https://jpad.com.pk/index.php/jpad/article/view/2792

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Case Reports

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