alexa Generalized Lipoathrophy: A New Phenotype of H-Syndrome
ISSN: 2165-7920

Journal of Clinical Case Reports
Open Access

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Case Report

Generalized Lipoathrophy: A New Phenotype of H-Syndrome

Sodaif Darvish1,2,3, Saeedeh Farajzadeh4, Nahid Askari5, Mohammad Mehdi Hayatbakhsh1,Sara shafieipour1,6*, Simin Shamsi Meymandi7, Saman Mohammadi8, Mahbobeh Asadi6,9 and Mohammad Mehdi Lashkarizadeh6

1Gastroenterology and Hepatology Research Center, Kerman University of medical Sciences, Kerman, Iran

2Physiology Research Center, Gastroenterology and Hepatology Research Center, Kerman University of medical Sciences, Kerman, Iran

3Institute of Basic and Clinical Physiology sciences, Kerman University of medical Sciences, Kerman, Iran

4Leishmania Research Center, Pediatric Dermatology Department, Afzalipour Hospital, Kerman Medical University, Kerman, Iran

5Department of Biotechnology, Institute of Science and High Technology and Environmental Sciences, Graduate University of Advanced Technology, Kerman, Iran

6Clinical Research Unit, Afzalipour Hospital, Kerman University of Medical Sciences, Kerman, Iran

7Dermatology Department, Afzalipour Hospital, Kerman Medical University, Kerman, Iran

8Department of Dermatology, Dermatopathology Section, Pathology and Stem Cell Research Center, Afzallipour Medical School, Kerman University of Medical Sciences, Kerman, Iran

9Internal Medicine Department, Afzalipour Hospital, Kerman Medical University, Kerman, Iran

Corresponding Author:
Sara shafieipour
Department of Gastroenterology
Afzalipour Hospital, Kerman University of Medical Sciences, Kerman, Iran
Tel: +98 341 3257470
Fax: +98 3413257470
E-mail: [email protected]

Received date: April 01, 2016; Accepted date: June 22, 2016; Published date: June 27, 2016

Citation:Darvish S, Farajzadeh S, Askari N, Hayatbakhsh MM, Shafieipour S, et al. (2016) Generalized Lipoathrophy: A New Phenotype of H-Syndrome. J Clin Case Rep 6:826. doi:10.4172/2165-7920.1000826

Copyright: © 2016 Darvish S, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

 

Abstract

The H-syndrome is a recently known autosomal recessive genodermatosis caused by mutations in the SLC29A3 gene, which encodes the nucleoside transporter hENT3. Cutaneous changes including Hyper pigmentation, hypertrichosis is characteristic for this syndrome but herein, we newly describe this syndrome in a 16 years old boy associated with generalized lipoatrophy and a novel mutation in exon 3 G155>A mutation in SLC29A3 gene. It seems that the clinical spectrum of this syndrome is much broader than the symptoms which were described in the first reported patients.

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