Novel Insights from Clinical Practice

Atış G.a· Şam Sarı A.b· Soylu E.c· Akgün Doğan Ö.d

Author affiliations

aDermatology Department, Göztepe Prof. Dr. Süleyman Yalçın State Hospital, İstanbul, Turkey
bDermatology Department, Sabuncuoğlu Şerefeddin Training and Research Hospital, Amasya, Turkey
cDermatology Department, University of Health Sciences, Haydarpaşa Numune Training and Research Hospital, İstanbul, Turkey
dGenetic Department, Acıbadem Mehmet Ali Aydınlar University, İstanbul, Turkey

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Article / Publication Details

First-Page Preview

Received: January 26, 2022
Accepted: June 11, 2022
Published online: July 18, 2022

Number of Print Pages: 4
Number of Figures: 3
Number of Tables: 0

ISSN: 2296-9195 (Print)
eISSN: 2296-9160 (Online)

For additional information: https://www.karger.com/SAD

Abstract

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.

© 2022 S. Karger AG, Basel

References Downes M, François M, Ferguson C, Parton RG, Koopman P. Vascular defects in a mouse model of hypotrichosis-lymphedema-telangiectasia syndrome indicate a role for SOX18 in blood vessel maturation. Hum Mol Genet. 2009;18(15):2839–50. Bastaki F, Mohamed M, Nair P, Saif F, Tawfiq N, Al-Ali MT, et al. A novel SOX18 mutation uncovered in Jordanian patient with hypotrichosis-lymphedema-telangiectasia syndrome by whole exome sequencing. Mol Cell Probes. 2016;30(1):18–21. Irrthum A, Devriendt K, Chitayat D, Matthijs G, Glade C, Steijlen PM, et al. Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. Am J Hum Genet. 2003;72(6):1470–8. Glade CS, van Steensel MA, Steijlen PM. Hypotrichosis, lymphedema of the legs, and acral telangiectasias: new syndrome? Eur J Dermatol. 2001;11(6):515–7. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–24. Wangberg H, Wigby K, Jones MC. A novel autosomal dominant mutation in SOX18 resulting in a fatal case of hypotrichosis-lymphedema-telangiectasia syndrome. Am J Med Genet A. 2018;176(12):2824–8. Article / Publication Details

First-Page Preview

Received: January 26, 2022
Accepted: June 11, 2022
Published online: July 18, 2022

Number of Print Pages: 4
Number of Figures: 3
Number of Tables: 0

ISSN: 2296-9195 (Print)
eISSN: 2296-9160 (Online)

For additional information: https://www.karger.com/SAD

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