Hypotrichosis-lymphedema-teleangiectasia syndrome L98.8

Author: Prof. Dr. med. Peter Altmeyer

All authors of this article

Last updated on: 29.10.2020

Dieser Artikel auf Deutsch

Definition
This section has been translated automatically.

Very rare syndrome with progressive hair loss that starts immediately after birth, progressive lymphedema of the lower extremity, Cutis marmorata (congenita) and multiple telangiectasias.

Etiopathogenesis
This section has been translated automatically.

mutation in the transcription factor gene SOX18, which is mapped on gene locus 20q13.33.

Incoming links (1)

Lymphatic malformations;

Disclaimer

Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

Authors

Last updated on: 29.10.2020