Hypotrichosis-lymphedema-teleangiectasia syndromeL98.8

Author:Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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DefinitionThis 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.

EtiopathogenesisThis section has been translated automatically.

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

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Last updated on: 29.10.2020