臨床症例報告ジャーナル

Generalized Lipoathrophy: A New Phenotype of H-Syndrome

Abstract

Sodaif Darvish, Saeedeh Farajzadeh, Nahid Askari, Mohammad Mehdi Hayatbakhsh, Sara shafieipour, Simin Shamsi Meymandi, Saman Mohammadi, Mahbobeh Asadi and Mohammad Mehdi Lashkarizadeh

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.