Hypotrichosis-Lymphoedema-Telangiectasia Syndrome: Brief Report and Literature Review-Reference-Cited by-同舟云学术

Hypotrichosis-Lymphoedema-Telangiectasia Syndrome: Brief Report and Literature Review

Published:2024-01-02 Issue: Volume:2 Page:31-35
ISSN:2836-3892
Container-title:Indian Journal of Postgraduate Dermatology
language:en
Short-container-title:IJPGD

Author:

Ul Islam Mohd Shurjeel¹,Bhat Yasmeen Jabeen¹,Ismail Ishrat Binti¹

Affiliation:

1. Department of Dermatology, Venereology and Leprosy, Govt Medical College, Srinagar, Jammu and Kashmir, India,

Abstract

Hypotrichosis-lymphoedema-telangiectasia syndrome (HLTS) can be identified by defects in the superficial vasculature, lymphatic system and hair follicles. We report a case of a 25-year-old female who presented with sparse hair throughout the scalp, body, eyebrows, nasal telangiectasia and oedema of the lower limbs. Once the patient is diagnosed with HLTS, lifelong monitoring of vascular integrity is essential.

Publisher

Scientific Scholar

Reference7 articles.

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4. Vascular Defects in a Mouse Model of Hypotrichosis-Lymphedema-Telangiectasia Syndrome Indicate a Role for SOX18 in Blood Vessel Maturation;Downes;Hum Mol Genet,2009

5. Construction and Functional Analysis of Novel Dominant-negative Mutant of Human SOX18 Protein;Milivojevic;Biochemistry (Mosc),2013