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SOX18 and the Hypotrichosis-Lymphedema-Telangiectasia Syndrome 

SOX18 and the Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Chapter:
SOX18 and the Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Author(s):

Pascal Brouillard

, Koen Devriendt

, and Miikka Vikkula

DOI:
10.1093/med/9780199934522.003.0127
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date: 07 March 2021

The hypotrichosis–lymphedema–telangiectasia syndrome (HLTS; OMIM 607823) is a rare syndrome with autosomal dominant or recessive pattern of inheritance. It is characterized by the triad of (1) sparse hair, (2) lymphatic edema, and (3) cutaneous telangiectasias. The hair has usually a normal appearance at birth but becomes sparse during infancy. Eyebrows and eyelashes are missing and the patients do not develop axillary or pubic hair. Lymphedema mostly affects lower limbs and has a variable age at onset, from congenital to puberty. Telangiectasias can be present at palms, soles, scalp, scrotum, or legs; however, it is not observed in all patients. The molecular basis of HLTS was established by considering the murine ragged phenotype as a putative counterpart of the human disorder. Sex determining Y-box 18 (SOX18), the human ortholog of the murine ragged gene, was found to be mutated in patients with HLTS, accounting for both recessive and dominant forms of the disease.

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