Familial pseudoxanthoma elasticum: Report of three case series in a single family | [Journal of Pakistan Association of Dermatologists • 2016]

Author(s):

1. Atasi Samanta: Department of Dermatology, NRS Medical College, Kolkata, West Bengal, India

2. Arun Achar: Department of Dermatology, NRS Medical College, Kolkata, West Bengal, India

3. Loknath Ghoshal: Department of Dermatology, NRS Medical College, Kolkata, West Bengal, India

4. Rathin Hazra: Department of Pathology, NRS Medical College, Kolkata, West Bengal, India

Abstract:

Pseudoxanthoma elasticum is a rare autosomal recessive skin disease with a slight female preponderance and often presents a therapeutic challenge due to additional risk to eyes and cardiovascular system. Clumping and distortion of elastic fibres in target organ leads to deposition of calcium and impair the function of elastic fibres of mid and deep dermis, media and intima of midsized arteries, Bruch's membrane in eye. Here we present three cases in the same family who presented with yellowish flat plaques, papules in the front and lateral side of the neck.

Page(s): 375-378

DOI: DOI not available

Published: Journal: Journal of Pakistan Association of Dermatologists, Volume: 26, Issue: 4, Year: 2016

Keywords:

Pseudoxanthoma elasticum , ABC6 gene

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