A Case with Hypotrichosis-Lymphedema-Telangiectasia Syndrome with Hair Shaft Fragility

Atis G., Sari A. S., Soylu E., AKGÜN DOĞAN Ö.

SKIN APPENDAGE DISORDERS, cilt.8, sa.6, ss.511-514, 2022 (ESCI) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 8 Sayı: 6
  • Basım Tarihi: 2022
  • Doi Numarası: 10.1159/000525710
  • Dergi Adı: SKIN APPENDAGE DISORDERS
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, EMBASE
  • Sayfa Sayıları: ss.511-514
  • Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Evet

Özet

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.