Congenital four-limb Lymphedema: A case report

Mahym Mansoor; Wajieha Saeed; Ghazala Butt; Faria Altaf; Ijaz Hussain

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 journal › Article › peer-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 language	English
Pages (from-to)	1783-1786
Number of pages	4
Journal	Journal of Pakistan Association of Dermatologists
Volume	33
Issue number	4
State	Published - Oct 2023
Externally published	Yes

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

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Cite this

@article{6bcfcc6354dc412087e304f6ffb5158b,

title = "Congenital four-limb Lymphedema: A case report",

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.",

keywords = "GJC2-related lymphedema, PIEZO1-related lymphatic dysplasia, Primary lymphedema",

author = "Mahym Mansoor and Wajieha Saeed and Ghazala Butt and Faria Altaf and Ijaz Hussain",

year = "2023",

month = oct,

language = "English",

volume = "33",

pages = "1783--1786",

journal = "Journal of Pakistan Association of Dermatologists",

issn = "1560-9014",

publisher = "Pakistan Association of Dermatologists",

number = "4",

}

TY - JOUR

T1 - Congenital four-limb Lymphedema

T2 - A case report

AU - Mansoor, Mahym

AU - Saeed, Wajieha

AU - Butt, Ghazala

AU - Altaf, Faria

AU - Hussain, Ijaz

PY - 2023/10

Y1 - 2023/10

N2 - 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.

AB - 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.

KW - GJC2-related lymphedema

KW - PIEZO1-related lymphatic dysplasia

KW - Primary lymphedema

UR - https://www.scopus.com/pages/publications/85174891539

M3 - Article

AN - SCOPUS:85174891539

SN - 1560-9014

VL - 33

SP - 1783

EP - 1786

JO - Journal of Pakistan Association of Dermatologists

JF - Journal of Pakistan Association of Dermatologists

IS - 4

ER -

Congenital four-limb Lymphedema: A case report

Abstract

Bibliographical note

Keywords

ASJC Scopus subject areas

UN SDGs

Fingerprint

Cite this