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Updated: Aug 20, 2025

A Murine Tail Lymphedema Model
Published on: February 10, 2021
A Case with Hypotrichosis-Lymphedema-Telangiectasia Syndrome with Hair Shaft Fragility
Güldehan Atış1, Ayşenur Şam Sarı2, Esra Soylu3
1Dermatology Department, Göztepe Prof. Dr. Süleyman Yalçın State Hospital, İstanbul, Turkey.
Introduction:
Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) is a disease characterized by the failure of angiogenesis, vascularization, and hair formation caused by a mutation in the SOX18 gene.
Case Presentation:
We report a 15-year-old female patient presented with sparse hairs on her scalp and eyebrows and the absence of eyelashes and body hair since birth. We detected premature weathering due to abnormality of the hair shaft.
Discussion/Conclusion:
Detection of trichophytosis and split hair in light microscopy in a patient with sparse hair, telangiectasia, and lymphedema may help diagnose HLTS.
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