Chanarin Dorfman Syndrome: A Case Report with Novel Nonsense Mutation

Sara Missaglia, Daniela Tavian, Neerja Gupta, Sunil Gothwal, Amit Kumar Satpathy, Prasenjit Das, Dipsal Timila, Madhulika Kabra

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

8 Citazioni (Scopus)

Abstract

Chanarin Dorfman syndrome (CDS) is a very rare neutral lipid metabolism disorder with multisystem involvement. It is inherited as an autosomal recessive manner. It is characterized with congenital ichthyosiform erythroderma and involvement of liver, muscle, and central nervous system. Demonstration of lipid vacuoles in neutrophils from peripheral blood smears in patients with ichthyosiform erythroderma leads to the diagnosis. We report a novel ABHD5 truncating variant in a twenty nine month old female child, who presented with icthyosiform erythroderma.
Lingua originaleEnglish
pagine (da-a)359-362
Numero di pagine4
RivistaGene
Volume2016
DOI
Stato di pubblicazionePubblicato - 2016

Keywords

  • Chanarin Dorfman Syndrome
  • Ichthyosis
  • lipid storage disorder
  • liver involvement

Fingerprint Entra nei temi di ricerca di 'Chanarin Dorfman Syndrome: A Case Report with Novel Nonsense Mutation'. Insieme formano una fingerprint unica.

Cita questo