hypotrichosis-lymphoedema-telangiectasia

hypotrichosis-lymphoedema-telangiectasia

An extremely rare (three families described in the world literature) condition characterised by loss of scalp and peripheral hair in early childhood, lymphoedema, and dilated veins and varicosities.

Molecular pathology
SOX18 mutations are associated autosomal recessive and dominant forms of hypotrichosis-lymphoedema-telangiectasia.