Congenital four-limb Lymphedema: A case report

Mahym Mansoor*, Wajieha Saeed, Ghazala Butt, Faria Altaf, Ijaz Hussain

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Primary lymphedema is a rare genetic, progressive disorder characterized by swelling due to inadequate lymphatic drainage by defective lymphatic vessels. Here we report a case of a teenage girl presenting with primary lymphedema but with erratic family history and features supportive of both a dominant and recessively inherited described mutations.

Original languageEnglish
Pages (from-to)1783-1786
Number of pages4
JournalJournal of Pakistan Association of Dermatologists
Volume33
Issue number4
StatePublished - Oct 2023
Externally publishedYes

Bibliographical note

Publisher Copyright:
© 2023 Pakistan Association of Dermatologists. All rights reserved.

Keywords

  • GJC2-related lymphedema
  • PIEZO1-related lymphatic dysplasia
  • Primary lymphedema

ASJC Scopus subject areas

  • Dermatology

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