Hypotrichosis-lymphedema-telangiectasia syndrome

Disease Overview

Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) is a rare condition that, as the name suggests, is associated with sparse hair (hypotrichosis), lymphedema, and telangiectasia, particularly on the palms of the hands. Symptoms usually begin at birth or in early childhood and become worse over time. HLTS is thought to be caused by changes (mutations) in the SOX18 gene. It can follow both an autosomal dominant or an autosomal recessive pattern of inheritance, depending on the affected family. There is currently no cure for the condition. Treatment is based on the signs and symptoms present in each person.[10065][10066][10067]

Synonyms

• Hypotrichosis lymphedema telangiectasia syndrome
• HLTS
• Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome
• Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome