ACTA MEDICA

ACTA MEDICA
Acta Medica (Hradec Králové) is an English language multidisciplinary medical journal. Acta Medica publishes reviews, original articles, brief communications, case reports, announcements, and notices. The journal was founded in 1958 under the title “A Collection of Scientific Works of the Charles University’s Faculty of Medicine in Hradec Králové”. The journal is indexed in Chemical Abstracts, CNKI, DOAJ, EBSCO, Hinari, Index Medicus, MEDLINE, Scopus, and Ulrichsweb.

ACTA MEDICA, Vol 63 No 4 (2020), 198–201

Atypical Presentation of Pseudoxanthoma Elasticum in Two Siblings from North India

Sunayana Misra, Ravindra Kumar Saran

DOI: https://doi.org/10.14712/18059694.2020.64
announced: 22. 12. 2020

abstract

Pseudoxanthoma elasticum (PXE) is a rare hereditary disorder occurring due to metabolic defect in the liver and manifesting predominantly in the skin, eyes and arteries. It shows characteristic yellowish papules on the skin around the nape of neck along with looseness of skin over flexural surfaces. PXE shows marked phenotypic heterogeneity. Complications related to arterial wall and retinal Bruchs’ membrane calcification occur later in life; early diagnosis therefore helps keep patient on follow up for development of the same. In Indian patients, classic skin changes may be missed clinically making histopathology pivotal in diagnosis and patient management.

keywords: pseudoxanthoma elasticum; hereditary; metabolic defect; ectopic calcification

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Atypical Presentation of Pseudoxanthoma Elasticum in Two Siblings from North India is licensed under a Creative Commons Attribution 4.0 International License.

210 x 297 mm
published: 4 x per year
print price: 150 czk
ISSN: 1211-4286
E-ISSN: 1805-9694

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