Title of article :
CEDNIK Syndrome, a Rare Neuro-Cutaneous Disorder in an Iranian Patient: Case Report and Review of Specific Neuro-Ichthyotic Syndromes
Author/Authors :
Ashrafzadeh ، Farah Department of Pediatrics - School of Medicine - Mashhad University of Medical Sciences , Esmaeilzadeh ، Mahla Student Research Committee (SRC), School of Medicine - Mashhad University of Medical Sciences , Mohammadi Asl ، Javad Department of Medical Genetics - School of Medicine - Ahvaz Jundishapur University of Medical Sciences , Hashemi ، Narges Department of Pediatrics - School of Medicine - Mashhad University of Medical Sciences , Imannezhad ، Shima Department of Pediatrics - School of Medicine - Mashhad University of Medical Sciences , Saeedi Zand ، Nazanin Department of Pediatrics - School of Medicine - Mashhad University of Medical Sciences , Mirzadeh ، Hanieh Sadat Department of Pediatrics - School of Medicine - Mashhad University of Medical Sciences
Abstract :
Cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma (CEDNIK) syndrome is an autosomal recessive neuro-cutaneous disorder characterized by a collection of clinical manifestations, including microcephaly, cerebral dysgenesis, palmoplantar keratoderma, facial dysmorphism, and ichthyosis. The etiology of this condition has been proved to be a homozygous mutation in the SNAP29 gene, which has an essential role in dermatological and neurological manifestations of this syndrome. In this report, we present the first documented Iranian patient with CEDNIK syndrome. So far, only 14 cases of this condition have been reported globally.
Keywords :
Ichthyosis , Cerebral dysgenesis , Keratoderma , Neurology , Pediatrics
Journal title :
Acta Medica Iranica
Journal title :
Acta Medica Iranica
